Mutagenetix > Incidental Mutation

Incidental Mutation 'R7452:Mdn1'

577790

Institutional Source

Beutler Lab

Gene Symbol

Mdn1

Ensembl Gene

ENSMUSG00000058006

Gene Name

midasin AAA ATPase 1

Synonyms

4833432B22Rik, LOC213784, D4Abb1e

MMRRC Submission

045526-MU

Accession Numbers

Genbank: NM_001081392; MGI: 1926159

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7452 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32657119-32775217 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32739030 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 3617 (I3617T)

Ref Sequence

ENSEMBL: ENSMUSP00000071569 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071642] [ENSMUST00000178134]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071642
AA Change: I3617T

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000071569
Gene: ENSMUSG00000058006
AA Change: I3617T

Domain	Start	End	E-Value	Type
low complexity region	48	75	N/A	INTRINSIC
low complexity region	258	270	N/A	INTRINSIC
Pfam:AAA_5	324	459	7.4e-19	PFAM
AAA	666	908	1.06e-6	SMART
AAA	1072	1217	2.09e-1	SMART
AAA	1378	1544	8.27e-9	SMART
AAA	1740	1893	6.78e-2	SMART
AAA	2053	2309	1.62e0	SMART
low complexity region	3181	3193	N/A	INTRINSIC
low complexity region	3541	3552	N/A	INTRINSIC
low complexity region	3557	3565	N/A	INTRINSIC
low complexity region	4189	4203	N/A	INTRINSIC
low complexity region	4339	4353	N/A	INTRINSIC
low complexity region	4672	4681	N/A	INTRINSIC
low complexity region	4735	4756	N/A	INTRINSIC
low complexity region	4769	4790	N/A	INTRINSIC
low complexity region	4886	4905	N/A	INTRINSIC
low complexity region	4924	4937	N/A	INTRINSIC
coiled coil region	4957	4983	N/A	INTRINSIC
low complexity region	5000	5017	N/A	INTRINSIC
low complexity region	5176	5192	N/A	INTRINSIC
low complexity region	5315	5329	N/A	INTRINSIC
VWA	5375	5556	2.73e-6	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178134
AA Change: I3617T

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000136222
Gene: ENSMUSG00000058006
AA Change: I3617T

Domain	Start	End	E-Value	Type
low complexity region	48	75	N/A	INTRINSIC
low complexity region	258	270	N/A	INTRINSIC
Pfam:AAA_5	324	459	4.4e-19	PFAM
AAA	666	908	1.06e-6	SMART
AAA	1072	1217	2.09e-1	SMART
AAA	1378	1544	8.27e-9	SMART
AAA	1740	1893	6.78e-2	SMART
AAA	2053	2309	1.62e0	SMART
low complexity region	3181	3193	N/A	INTRINSIC
low complexity region	3541	3552	N/A	INTRINSIC
low complexity region	3557	3565	N/A	INTRINSIC
low complexity region	4189	4203	N/A	INTRINSIC
low complexity region	4339	4353	N/A	INTRINSIC
low complexity region	4667	4676	N/A	INTRINSIC
low complexity region	4730	4751	N/A	INTRINSIC
low complexity region	4764	4785	N/A	INTRINSIC
low complexity region	4881	4900	N/A	INTRINSIC
low complexity region	4919	4932	N/A	INTRINSIC
coiled coil region	4952	4978	N/A	INTRINSIC
low complexity region	4992	5010	N/A	INTRINSIC
low complexity region	5169	5185	N/A	INTRINSIC
low complexity region	5308	5322	N/A	INTRINSIC
VWA	5368	5549	2.73e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (75/75)

Allele List at MGI

All alleles(29) : Targeted, other(2) Gene trapped(27)

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	G	7: 34,245,671	S595P	probably benign	Het
A2m	C	A	6: 121,641,332	Q195K	probably damaging	Het
Abcg4	C	T	9: 44,279,600	G249R	probably damaging	Het
Actn1	T	C	12: 80,183,602	T293A	probably benign	Het
Adamts5	T	A	16: 85,877,981	T432S	probably benign	Het
Adh5	A	G	3: 138,454,745	T347A	probably benign	Het
Agbl5	A	G	5: 30,893,391	D432G	probably damaging	Het
Ank3	A	G	10: 69,899,051	T797A	possibly damaging	Het
Aoc1	T	G	6: 48,908,790	V743G	probably benign	Het
Arap2	A	T	5: 62,676,549	S858R	probably benign	Het
Arid1a	A	C	4: 133,753,127	V162G	possibly damaging	Het
Armc9	A	G	1: 86,213,092	D588G	possibly damaging	Het
Art3	A	G	5: 92,392,680	Y94C	probably damaging	Het
Btaf1	T	A	19: 36,969,127	D444E	probably damaging	Het
Cav2	A	G	6: 17,282,076	H111R	probably damaging	Het
Ccdc148	A	G	2: 58,827,584	L469P	probably damaging	Het
Celsr2	T	A	3: 108,413,090	E802V	possibly damaging	Het
Cfap57	T	C	4: 118,595,784	D574G	probably damaging	Het
Chd7	A	C	4: 8,854,731	D2024A	probably benign	Het
Corin	T	A	5: 72,435,247	D269V	possibly damaging	Het
Cyp4a12a	A	T	4: 115,327,598	I359F	probably damaging	Het
Defb6	T	C	8: 19,225,524	L7P	probably damaging	Het
Dnah7c	A	T	1: 46,647,036	M1817L	possibly damaging	Het
Dock3	A	G	9: 106,989,465	F682S	probably damaging	Het
Enpep	T	A	3: 129,271,403	Y879F	possibly damaging	Het
Enpp2	T	C	15: 54,866,736	N462S	probably damaging	Het
Ephb3	T	C	16: 21,217,357		probably null	Het
F7	C	T	8: 13,035,215	H414Y	probably benign	Het
Fbn1	T	C	2: 125,505,455	H50R	possibly damaging	Het
Fig4	T	C	10: 41,240,637	D586G	possibly damaging	Het
Fryl	A	G	5: 73,023,988	L2825P	probably damaging	Het
Gal3st2	T	A	1: 93,872,518	H30Q	possibly damaging	Het
Gm12886	G	A	4: 121,417,474	Q70*	probably null	Het
Gm8104	A	C	14: 43,110,044	T190P	probably benign	Het
Hps3	A	T	3: 20,011,428	N749K	probably damaging	Het
Hr	A	G	14: 70,571,486	T1101A	probably damaging	Het
Htatip2	T	A	7: 49,773,326	S210T	probably benign	Het
Ift80	T	C	3: 68,994,282		probably null	Het
Iqgap1	A	G	7: 80,760,829	V212A	possibly damaging	Het
Itih5	A	G	2: 10,238,796	E448G	probably damaging	Het
Kdm5b	T	C	1: 134,624,948	C1221R	probably damaging	Het
Lrrc72	T	C	12: 36,212,693	Y52C	probably benign	Het
Map1b	C	T	13: 99,508,140	R85Q	probably damaging	Het
Mtpap	T	A	18: 4,379,705	H98Q	possibly damaging	Het
Nemf	A	T	12: 69,337,959		probably null	Het
Neto1	A	T	18: 86,498,931	I458L	probably benign	Het
Nfam1	T	A	15: 83,014,962	M128L	probably benign	Het
Olfr1279	A	G	2: 111,306,921	T239A	probably damaging	Het
Olfr1383	C	A	11: 49,524,381	H219Q	probably benign	Het
Olfr501-ps1	C	T	7: 108,508,593	T179I	unknown	Het
Olfr914	A	T	9: 38,607,088	I208F	probably benign	Het
P2ry14	C	T	3: 59,116,045	G7D	probably benign	Het
Pde11a	A	G	2: 76,136,414	Y564H	probably damaging	Het
Pex5l	C	T	3: 33,004,318	V262I	probably benign	Het
Poli	A	G	18: 70,508,978	V717A	possibly damaging	Het
Prdm14	A	T	1: 13,125,559	W93R	probably damaging	Het
Rbm46	T	C	3: 82,864,121	M396V	probably benign	Het
Rcor2	T	C	19: 7,271,222	V212A	probably benign	Het
Rcor3	C	A	1: 192,137,876	G8V	probably damaging	Het
Rhox4d	G	A	X: 37,518,992	G191E	unknown	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Skp2	T	A	15: 9,113,832	Q366L	probably damaging	Het
Slc13a3	A	T	2: 165,427,114	S312T	probably benign	Het
Sstr1	T	C	12: 58,213,356	L255P	probably damaging	Het
Steap3	T	C	1: 120,227,855	E458G	possibly damaging	Het
Sv2b	T	A	7: 75,147,713	D311V	probably damaging	Het
Tmem132b	A	G	5: 125,638,268	D347G	probably benign	Het
Tmem161a	A	G	8: 70,177,488	D108G	probably damaging	Het
Traf5	T	A	1: 191,999,831	I47F		Het
Trp53bp2	C	T	1: 182,446,568	Q95*	probably null	Het
Ttn	G	T	2: 76,877,143		probably null	Het
Usf3	T	C	16: 44,220,034	S1626P	probably benign	Het
Usp3	T	C	9: 66,566,898	R33G	probably benign	Het
Zbtb20	G	T	16: 43,610,676	A517S	probably damaging	Het

Other mutations in Mdn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Mdn1	APN	4	32723651	missense	probably damaging	1.00
IGL00426:Mdn1	APN	4	32719214	missense	possibly damaging	0.91
IGL00570:Mdn1	APN	4	32735719	missense	probably benign
IGL00573:Mdn1	APN	4	32666619	critical splice donor site	probably null
IGL00983:Mdn1	APN	4	32735525	missense	probably damaging	1.00
IGL01288:Mdn1	APN	4	32730864	missense	probably benign	0.00
IGL01359:Mdn1	APN	4	32743686	missense	probably benign	0.10
IGL01457:Mdn1	APN	4	32715922	missense	possibly damaging	0.82
IGL01530:Mdn1	APN	4	32711938	splice site	probably benign
IGL01684:Mdn1	APN	4	32726857	missense	probably benign
IGL01753:Mdn1	APN	4	32708483	missense	probably benign
IGL01901:Mdn1	APN	4	32669591	missense	probably damaging	1.00
IGL01952:Mdn1	APN	4	32723657	missense	possibly damaging	0.82
IGL01960:Mdn1	APN	4	32758393	missense	probably benign	0.14
IGL02019:Mdn1	APN	4	32749948	missense	possibly damaging	0.93
IGL02100:Mdn1	APN	4	32715708	missense	possibly damaging	0.90
IGL02117:Mdn1	APN	4	32709364	missense	probably benign	0.00
IGL02154:Mdn1	APN	4	32740395	missense	probably benign	0.35
IGL02216:Mdn1	APN	4	32739092	missense	probably benign	0.03
IGL02371:Mdn1	APN	4	32676860	splice site	probably benign
IGL02396:Mdn1	APN	4	32700120	missense	probably damaging	0.99
IGL02454:Mdn1	APN	4	32694674	critical splice donor site	probably null
IGL02502:Mdn1	APN	4	32670579	missense	possibly damaging	0.69
IGL02883:Mdn1	APN	4	32763199	missense	probably benign	0.05
IGL02946:Mdn1	APN	4	32734366	missense	probably damaging	0.98
IGL02950:Mdn1	APN	4	32713360	splice site	probably benign
IGL03076:Mdn1	APN	4	32735564	missense	probably damaging	0.97
IGL03129:Mdn1	APN	4	32729994	missense	possibly damaging	0.47
IGL03234:Mdn1	APN	4	32732842	missense	probably benign	0.06
3-1:Mdn1	UTSW	4	32725967	critical splice donor site	probably null
IGL03046:Mdn1	UTSW	4	32694495	missense	possibly damaging	0.73
P0035:Mdn1	UTSW	4	32749934	missense	probably benign	0.05
PIT4508001:Mdn1	UTSW	4	32719223	missense	probably damaging	0.97
PIT4618001:Mdn1	UTSW	4	32746527	missense	probably benign	0.20
R0008:Mdn1	UTSW	4	32718317	missense	possibly damaging	0.47
R0110:Mdn1	UTSW	4	32738619	missense	probably benign	0.20
R0125:Mdn1	UTSW	4	32729956	missense	probably damaging	0.98
R0257:Mdn1	UTSW	4	32693534	missense	probably damaging	0.99
R0266:Mdn1	UTSW	4	32741835	missense	probably damaging	0.99
R0349:Mdn1	UTSW	4	32750318	missense	probably damaging	1.00
R0362:Mdn1	UTSW	4	32746439	critical splice acceptor site	probably null
R0421:Mdn1	UTSW	4	32684707	missense	probably benign	0.39
R0450:Mdn1	UTSW	4	32738619	missense	probably benign	0.20
R0465:Mdn1	UTSW	4	32699204	splice site	probably benign
R0469:Mdn1	UTSW	4	32738619	missense	probably benign	0.20
R0477:Mdn1	UTSW	4	32750928	missense	probably benign	0.02
R0481:Mdn1	UTSW	4	32767182	splice site	probably benign
R0504:Mdn1	UTSW	4	32698916	splice site	probably benign
R0522:Mdn1	UTSW	4	32672837	missense	probably benign	0.09
R0550:Mdn1	UTSW	4	32730479	missense	probably benign	0.13
R0607:Mdn1	UTSW	4	32712014	missense	probably damaging	1.00
R0607:Mdn1	UTSW	4	32732829	missense	probably benign	0.36
R0664:Mdn1	UTSW	4	32768011	nonsense	probably null
R0701:Mdn1	UTSW	4	32699263	missense	probably benign	0.00
R0801:Mdn1	UTSW	4	32668895	missense	probably benign	0.04
R0841:Mdn1	UTSW	4	32752032	missense	probably benign	0.23
R0849:Mdn1	UTSW	4	32741835	missense	probably damaging	0.99
R0893:Mdn1	UTSW	4	32701713	missense	probably benign	0.01
R1114:Mdn1	UTSW	4	32746568	critical splice donor site	probably null
R1137:Mdn1	UTSW	4	32694511	missense	probably damaging	1.00
R1185:Mdn1	UTSW	4	32735576	missense	possibly damaging	0.94
R1185:Mdn1	UTSW	4	32735576	missense	possibly damaging	0.94
R1185:Mdn1	UTSW	4	32735576	missense	possibly damaging	0.94
R1257:Mdn1	UTSW	4	32667089	critical splice acceptor site	probably null
R1356:Mdn1	UTSW	4	32700334	splice site	probably benign
R1466:Mdn1	UTSW	4	32730788	missense	probably benign	0.28
R1466:Mdn1	UTSW	4	32730788	missense	probably benign	0.28
R1518:Mdn1	UTSW	4	32739977	missense	probably damaging	1.00
R1569:Mdn1	UTSW	4	32723501	missense	probably null	0.10
R1574:Mdn1	UTSW	4	32722315	missense	probably benign
R1574:Mdn1	UTSW	4	32722315	missense	probably benign
R1591:Mdn1	UTSW	4	32700092	missense	possibly damaging	0.65
R1678:Mdn1	UTSW	4	32663050	missense	probably damaging	0.99
R1696:Mdn1	UTSW	4	32700417	missense	possibly damaging	0.91
R1707:Mdn1	UTSW	4	32693504	missense	probably damaging	1.00
R1749:Mdn1	UTSW	4	32773952	missense	probably damaging	1.00
R1780:Mdn1	UTSW	4	32700103	missense	probably damaging	1.00
R1833:Mdn1	UTSW	4	32720761	missense	probably damaging	0.97
R1858:Mdn1	UTSW	4	32730881	missense	probably benign	0.17
R1870:Mdn1	UTSW	4	32763339	missense	probably damaging	1.00
R1887:Mdn1	UTSW	4	32742540	missense	probably damaging	1.00
R1909:Mdn1	UTSW	4	32760839	small deletion	probably benign
R2075:Mdn1	UTSW	4	32716058	missense	probably benign	0.03
R2103:Mdn1	UTSW	4	32738712	missense	possibly damaging	0.75
R2104:Mdn1	UTSW	4	32743843	splice site	probably null
R2110:Mdn1	UTSW	4	32700409	missense	probably damaging	1.00
R2111:Mdn1	UTSW	4	32700409	missense	probably damaging	1.00
R2206:Mdn1	UTSW	4	32716271	missense	possibly damaging	0.71
R2221:Mdn1	UTSW	4	32763306	missense	probably benign	0.37
R2240:Mdn1	UTSW	4	32765701	missense	possibly damaging	0.90
R2351:Mdn1	UTSW	4	32750010	missense	probably benign	0.21
R2421:Mdn1	UTSW	4	32723621	missense	probably damaging	0.96
R3036:Mdn1	UTSW	4	32750013	missense	probably damaging	0.99
R3434:Mdn1	UTSW	4	32733726	critical splice donor site	probably null
R3435:Mdn1	UTSW	4	32733726	critical splice donor site	probably null
R3783:Mdn1	UTSW	4	32720818	missense	probably benign	0.01
R3811:Mdn1	UTSW	4	32693506	nonsense	probably null
R3973:Mdn1	UTSW	4	32722363	missense	probably benign	0.00
R4154:Mdn1	UTSW	4	32707475	missense	probably damaging	0.96
R4372:Mdn1	UTSW	4	32743809	missense	probably benign	0.03
R4393:Mdn1	UTSW	4	32754482	missense	possibly damaging	0.48
R4438:Mdn1	UTSW	4	32704635	missense	probably damaging	1.00
R4471:Mdn1	UTSW	4	32668860	missense	probably benign	0.00
R4509:Mdn1	UTSW	4	32715883	missense	probably damaging	1.00
R4538:Mdn1	UTSW	4	32722334	missense	probably damaging	1.00
R4557:Mdn1	UTSW	4	32754437	missense	probably damaging	1.00
R4570:Mdn1	UTSW	4	32741812	missense	probably damaging	1.00
R4591:Mdn1	UTSW	4	32707636	missense	probably damaging	1.00
R4658:Mdn1	UTSW	4	32730749	splice site	probably null
R4667:Mdn1	UTSW	4	32679572	missense	probably damaging	1.00
R4684:Mdn1	UTSW	4	32666430	missense	probably damaging	1.00
R4778:Mdn1	UTSW	4	32683583	nonsense	probably null
R4807:Mdn1	UTSW	4	32685651	splice site	probably null
R4923:Mdn1	UTSW	4	32671608	missense	possibly damaging	0.89
R4951:Mdn1	UTSW	4	32707459	missense	probably damaging	1.00
R4963:Mdn1	UTSW	4	32756512	missense	probably benign	0.00
R4971:Mdn1	UTSW	4	32739827	missense	probably damaging	1.00
R4973:Mdn1	UTSW	4	32734418	missense	probably benign	0.01
R5122:Mdn1	UTSW	4	32670593	missense	probably damaging	1.00
R5159:Mdn1	UTSW	4	32774008	missense	possibly damaging	0.93
R5164:Mdn1	UTSW	4	32759011	splice site	probably null
R5215:Mdn1	UTSW	4	32741418	missense	possibly damaging	0.78
R5217:Mdn1	UTSW	4	32723690	missense	probably damaging	0.98
R5219:Mdn1	UTSW	4	32723690	missense	probably damaging	0.98
R5365:Mdn1	UTSW	4	32723690	missense	probably damaging	0.98
R5366:Mdn1	UTSW	4	32723690	missense	probably damaging	0.98
R5368:Mdn1	UTSW	4	32723690	missense	probably damaging	0.98
R5445:Mdn1	UTSW	4	32723690	missense	probably damaging	0.98
R5462:Mdn1	UTSW	4	32720897	missense	probably benign
R5522:Mdn1	UTSW	4	32685783	missense	probably damaging	1.00
R5525:Mdn1	UTSW	4	32767961	missense	possibly damaging	0.73
R5578:Mdn1	UTSW	4	32728167	missense	probably benign	0.04
R5605:Mdn1	UTSW	4	32765664	missense	probably benign
R5621:Mdn1	UTSW	4	32716371	missense	possibly damaging	0.46
R5636:Mdn1	UTSW	4	32695480	missense	probably damaging	1.00
R5650:Mdn1	UTSW	4	32667467	splice site	probably null
R5780:Mdn1	UTSW	4	32722950	missense	probably benign	0.02
R5838:Mdn1	UTSW	4	32754547	missense	probably damaging	0.99
R5857:Mdn1	UTSW	4	32670646	missense	probably benign	0.09
R5895:Mdn1	UTSW	4	32695400	missense	probably damaging	1.00
R5943:Mdn1	UTSW	4	32678330	missense	probably damaging	1.00
R6008:Mdn1	UTSW	4	32741073	missense	probably damaging	1.00
R6013:Mdn1	UTSW	4	32715713	missense	probably damaging	1.00
R6075:Mdn1	UTSW	4	32689581	missense	possibly damaging	0.48
R6151:Mdn1	UTSW	4	32684735	missense	probably damaging	1.00
R6163:Mdn1	UTSW	4	32716040	missense	probably damaging	1.00
R6181:Mdn1	UTSW	4	32715953	missense	probably damaging	1.00
R6211:Mdn1	UTSW	4	32696269	missense	probably benign	0.12
R6249:Mdn1	UTSW	4	32708484	missense	possibly damaging	0.85
R6251:Mdn1	UTSW	4	32748590	missense	probably benign	0.13
R6253:Mdn1	UTSW	4	32749593	missense	probably benign	0.25
R6273:Mdn1	UTSW	4	32715979	missense	probably benign	0.01
R6297:Mdn1	UTSW	4	32730054	nonsense	probably null
R6384:Mdn1	UTSW	4	32670607	missense	probably damaging	1.00
R6463:Mdn1	UTSW	4	32773308	missense	probably damaging	1.00
R6528:Mdn1	UTSW	4	32713780	missense	probably damaging	1.00
R6688:Mdn1	UTSW	4	32774041	missense	possibly damaging	0.74
R6762:Mdn1	UTSW	4	32676786	missense	possibly damaging	0.50
R6794:Mdn1	UTSW	4	32741893	missense	probably damaging	1.00
R6894:Mdn1	UTSW	4	32748614	missense	possibly damaging	0.75
R6935:Mdn1	UTSW	4	32774041	missense	possibly damaging	0.74
R6980:Mdn1	UTSW	4	32726942	critical splice donor site	probably null
R6995:Mdn1	UTSW	4	32733374	missense	probably benign	0.03
R7048:Mdn1	UTSW	4	32767969	missense	probably benign	0.00
R7082:Mdn1	UTSW	4	32762341	missense	probably benign
R7158:Mdn1	UTSW	4	32725121	missense	probably benign	0.09
R7166:Mdn1	UTSW	4	32746446	missense	probably damaging	1.00
R7168:Mdn1	UTSW	4	32719184	missense	probably damaging	1.00
R7175:Mdn1	UTSW	4	32694634	missense	probably damaging	1.00
R7195:Mdn1	UTSW	4	32701823	missense	probably damaging	1.00
R7250:Mdn1	UTSW	4	32695427	missense	probably damaging	1.00
R7274:Mdn1	UTSW	4	32725944	missense	probably benign	0.12
R7330:Mdn1	UTSW	4	32723685	missense	probably benign	0.16
R7363:Mdn1	UTSW	4	32691729	missense	probably damaging	0.99
R7369:Mdn1	UTSW	4	32773375	missense	probably damaging	0.99
R7523:Mdn1	UTSW	4	32667270	critical splice acceptor site	probably null
R7594:Mdn1	UTSW	4	32696359	missense	probably benign	0.27
R7605:Mdn1	UTSW	4	32694599	missense	probably damaging	1.00
R7661:Mdn1	UTSW	4	32691229	missense	probably benign	0.08
R7689:Mdn1	UTSW	4	32739912	missense	probably damaging	1.00
R7699:Mdn1	UTSW	4	32741344	missense	probably damaging	1.00
R7700:Mdn1	UTSW	4	32741344	missense	probably damaging	1.00
R7714:Mdn1	UTSW	4	32722360	missense	possibly damaging	0.75
R7718:Mdn1	UTSW	4	32718420	missense	probably damaging	1.00
R7762:Mdn1	UTSW	4	32734421	missense	probably benign
R7787:Mdn1	UTSW	4	32741794	missense	probably damaging	1.00
R8111:Mdn1	UTSW	4	32674003	missense	possibly damaging	0.81
R8222:Mdn1	UTSW	4	32707477	missense	probably benign	0.09
R8246:Mdn1	UTSW	4	32657284	missense	probably benign	0.06
R8267:Mdn1	UTSW	4	32742485	missense	possibly damaging	0.82
R8286:Mdn1	UTSW	4	32731960	missense	possibly damaging	0.91
R8305:Mdn1	UTSW	4	32725107	missense	probably benign
R8318:Mdn1	UTSW	4	32735897	critical splice donor site	probably null
R8379:Mdn1	UTSW	4	32756453	missense	probably null	1.00
R8384:Mdn1	UTSW	4	32765680	missense	probably benign	0.05
R8514:Mdn1	UTSW	4	32739857	missense	probably damaging	1.00
R8560:Mdn1	UTSW	4	32743830	missense	probably benign	0.08
R8672:Mdn1	UTSW	4	32768793	missense	probably damaging	1.00
R8708:Mdn1	UTSW	4	32725854	missense	probably damaging	1.00
R8769:Mdn1	UTSW	4	32751390	missense	probably damaging	0.97
R8896:Mdn1	UTSW	4	32678328	missense	probably benign	0.28
R8918:Mdn1	UTSW	4	32744579	nonsense	probably null
R8920:Mdn1	UTSW	4	32719280	missense	probably damaging	1.00
R8966:Mdn1	UTSW	4	32672837	nonsense	probably null
R8997:Mdn1	UTSW	4	32773275	missense	probably damaging	1.00
R9120:Mdn1	UTSW	4	32701814	missense	probably damaging	1.00
R9129:Mdn1	UTSW	4	32676812	missense	probably benign	0.24
R9131:Mdn1	UTSW	4	32762275	missense	possibly damaging	0.69
R9200:Mdn1	UTSW	4	32760791	missense	probably benign	0.00
R9226:Mdn1	UTSW	4	32694612	missense	probably benign	0.25
R9235:Mdn1	UTSW	4	32739122	missense	probably benign	0.10
R9293:Mdn1	UTSW	4	32707579	missense	probably damaging	1.00
R9315:Mdn1	UTSW	4	32760911	missense	probably benign	0.00
R9338:Mdn1	UTSW	4	32666536	missense	probably benign	0.00
R9353:Mdn1	UTSW	4	32693504	missense	probably damaging	1.00
R9393:Mdn1	UTSW	4	32713825	missense
R9420:Mdn1	UTSW	4	32678414	missense	probably damaging	1.00
R9475:Mdn1	UTSW	4	32739849	missense	possibly damaging	0.65
R9583:Mdn1	UTSW	4	32741372	missense	probably damaging	1.00
R9600:Mdn1	UTSW	4	32684723	nonsense	probably null
R9640:Mdn1	UTSW	4	32754539	missense	probably damaging	1.00
R9688:Mdn1	UTSW	4	32745590	missense	probably damaging	1.00
R9744:Mdn1	UTSW	4	32715711	missense	possibly damaging	0.91
X0066:Mdn1	UTSW	4	32739030	missense	probably damaging	1.00
Z1176:Mdn1	UTSW	4	32667102	missense	probably benign	0.01
Z1176:Mdn1	UTSW	4	32668944	missense	probably damaging	1.00
Z1176:Mdn1	UTSW	4	32696244	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGGTCTCAGTCGTAATGCC -3'
(R):5'- CCCCAGAGTATTATCGAGAACTTCC -3'

Sequencing Primer
(F):5'- CAGTCGTAATGCCACTGTTG -3'
(R):5'- GAGTATTATCGAGAACTTCCATACCC -3'

Posted On

2019-10-07