Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4508001:Mdn1'

556218

Institutional Source

Beutler Lab

Gene Symbol

Mdn1

Ensembl Gene

ENSMUSG00000058006

Gene Name

midasin AAA ATPase 1

Synonyms

4833432B22Rik, LOC213784, D4Abb1e

Accession Numbers

Genbank: NM_001081392; MGI: 1926159

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4508001 (G1)

Quality Score

206.009

Status

Not validated

Chromosome

Chromosomal Location

32657119-32775217 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32719223 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 2262 (I2262T)

Ref Sequence

ENSEMBL: ENSMUSP00000071569 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000071642
AA Change: I2262T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071569
Gene: ENSMUSG00000058006
AA Change: I2262T

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: I2262T

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136222
Gene: ENSMUSG00000058006
AA Change: I2262T

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: 93.4%
3x: 90.7%
10x: 84.6%
20x: 71.6%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	T	C	16: 20,357,378	T1228A	probably damaging	Het
Actg2	A	T	6: 83,513,007	I370N	possibly damaging	Het
Ankrd36	A	G	11: 5,607,137	T330A	possibly damaging	Het
Atrip	C	T	9: 109,073,989	A6T	possibly damaging	Het
Bms1	G	A	6: 118,383,806	R1234C	probably benign	Het
Cacnb2	A	T	2: 14,984,419	T487S	probably benign	Het
Col4a3bp	T	C	13: 96,630,776	F478S	probably damaging	Het
Esco2	A	T	14: 65,831,465	V132E	probably damaging	Het
Gjb5	A	T	4: 127,356,240	L37Q	probably damaging	Het
Gm8020	T	A	14: 42,502,277	Y24F		Het
H2-Q6	T	C	17: 35,425,820	L195P	probably damaging	Het
Hc	T	C	2: 34,984,804	T1602A	probably damaging	Het
Hcrtr2	A	T	9: 76,246,380	Y243*	probably null	Het
Hist1h2bg	CTCGACCATCACGTC	CTC	13: 23,571,693		probably benign	Het
Itga3	T	C	11: 95,055,893	H730R	probably benign	Het
Kif1a	A	T	1: 93,046,729	L866Q	probably damaging	Het
Krt81	A	T	15: 101,462,725	L127Q	probably damaging	Het
Mxd3	A	T	13: 55,325,894	D170E	probably benign	Het
Myh2	A	G	11: 67,185,505	M811V	probably benign	Het
Naa16	A	T	14: 79,369,087	D335E	probably benign	Het
Nkd1	A	G	8: 88,522,400	T58A	probably benign	Het
Ogfrl1	T	A	1: 23,370,270	R292*	probably null	Het
Olfr1136	G	A	2: 87,693,715	H56Y	probably damaging	Het
Olfr589	T	A	7: 103,155,313	M145L	probably benign	Het
Pom121l12	A	G	11: 14,599,689	R132G	possibly damaging	Het
Prss46	A	G	9: 110,851,416	K210E	probably damaging	Het
Scn8a	T	C	15: 101,029,692	Y1351H	probably damaging	Het
Shisa9	G	A	16: 12,267,480	V318I	probably benign	Het
Slc41a2	T	G	10: 83,254,880	H480P	probably damaging	Het
Slc45a1	C	A	4: 150,638,435	A331S	probably benign	Het
Smg1	A	T	7: 118,185,541	F885I	unknown	Het
Speer4f1	T	C	5: 17,480,414	S236P	unknown	Het
Zfp326	A	T	5: 105,914,690	Q475L	probably benign	Het
Zzef1	T	G	11: 72,895,176	V2058G	probably benign	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
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	intron	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
R7452:Mdn1	UTSW	4	32739030	missense	possibly damaging	0.87
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
X0066:Mdn1	UTSW	4	32739030	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGTACTTTTCTCAAGCTATGTGC -3'
(R):5'- TGAGTGATCAAATGGCCTTCTC -3'

Sequencing Primer
(F):5'- TCTTGGAAGAAATCAGCATCTCACAG -3'
(R):5'- ATGGCCTTCTCAGAACATGG -3'

Posted On

2019-06-07