Mutagenetix > Incidental Mutation

Incidental Mutation 'R8865:Med12l'

675848

Institutional Source

Beutler Lab

Gene Symbol

Med12l

Ensembl Gene

ENSMUSG00000056476

Gene Name

mediator complex subunit 12-like

Synonyms

MMRRC Submission

Accession Numbers

NCBI RefSeq: NM_177855.3; MGI: 2139916

Is this an essential gene?

Probably non essential (E-score: 0.223) question?

Stock #

R8865 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59005825-59318682 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59071882 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 276 (V276A)

Ref Sequence

ENSEMBL: ENSMUSP00000041859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029393] [ENSMUST00000040325] [ENSMUST00000040846] [ENSMUST00000164225] [ENSMUST00000199659]

AlphaFold

Q8BQM9

Predicted Effect

probably benign
Transcript: ENSMUST00000029393
AA Change: V276A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029393
Gene: ENSMUSG00000056476
AA Change: V276A

Domain	Start	End	E-Value	Type
Med12	101	172	1.54e-17	SMART
low complexity region	227	235	N/A	INTRINSIC
low complexity region	280	289	N/A	INTRINSIC
Pfam:Med12-LCEWAV	293	737	1.6e-200	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000040325
AA Change: V265A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000042269
Gene: ENSMUSG00000056476
AA Change: V265A

Domain	Start	End	E-Value	Type
Med12	101	161	1.71e-24	SMART
low complexity region	216	224	N/A	INTRINSIC
low complexity region	269	278	N/A	INTRINSIC
Pfam:Med12-LCEWAV	282	730	2.6e-207	PFAM
low complexity region	744	758	N/A	INTRINSIC
low complexity region	853	872	N/A	INTRINSIC
low complexity region	1455	1466	N/A	INTRINSIC
low complexity region	1728	1742	N/A	INTRINSIC
low complexity region	1769	1783	N/A	INTRINSIC
Pfam:Med12-PQL	1803	2029	2.3e-14	PFAM
low complexity region	2055	2076	N/A	INTRINSIC
low complexity region	2083	2101	N/A	INTRINSIC
low complexity region	2116	2136	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000040846
AA Change: V276A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000041859
Gene: ENSMUSG00000056476
AA Change: V276A

Domain	Start	End	E-Value	Type
Med12	101	172	1.54e-17	SMART
low complexity region	227	235	N/A	INTRINSIC
low complexity region	280	289	N/A	INTRINSIC
Pfam:Med12-LCEWAV	293	728	9e-201	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164225
AA Change: V265A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127038
Gene: ENSMUSG00000056476
AA Change: V265A

Domain	Start	End	E-Value	Type
Med12	101	161	1.71e-24	SMART
low complexity region	216	224	N/A	INTRINSIC
low complexity region	269	278	N/A	INTRINSIC
Pfam:Med12-LCEWAV	283	765	5e-187	PFAM
low complexity region	779	793	N/A	INTRINSIC
low complexity region	888	907	N/A	INTRINSIC
low complexity region	1490	1501	N/A	INTRINSIC
low complexity region	1763	1777	N/A	INTRINSIC
low complexity region	1804	1818	N/A	INTRINSIC
Pfam:Med12-PQL	1840	2063	9.7e-66	PFAM
low complexity region	2090	2111	N/A	INTRINSIC
low complexity region	2118	2136	N/A	INTRINSIC
low complexity region	2151	2171	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199659
AA Change: V265A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142903
Gene: ENSMUSG00000056476
AA Change: V265A

Domain	Start	End	E-Value	Type
Med12	101	161	1.71e-24	SMART
low complexity region	216	224	N/A	INTRINSIC
low complexity region	269	278	N/A	INTRINSIC
Pfam:Med12-LCEWAV	282	765	5.5e-209	PFAM
low complexity region	779	793	N/A	INTRINSIC
low complexity region	888	907	N/A	INTRINSIC
low complexity region	1490	1501	N/A	INTRINSIC
low complexity region	1761	1775	N/A	INTRINSIC
low complexity region	1802	1816	N/A	INTRINSIC
Pfam:Med12-PQL	1836	2062	1.7e-15	PFAM
low complexity region	2088	2130	N/A	INTRINSIC
low complexity region	2144	2164	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the Mediator complex, which is involved in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-specific transcriptional activators with the basal transcription machinery. [provided by RefSeq, May 2010]

Allele List at MGI

All alleles(4) : Targeted(3) Gene trapped(1)

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	T	A	11: 50,781,744	Y606*	probably null	Het
Adgrb1	A	G	15: 74,543,658	I696V	possibly damaging	Het
Ass1	A	G	2: 31,520,395	Q406R	probably benign	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,099,982		probably benign	Het
Ccdc148	T	C	2: 58,829,820	K409R	possibly damaging	Het
Ccnl1	A	T	3: 65,946,848	S451T	probably benign	Het
Cdc123	T	C	2: 5,795,424		probably benign	Het
Cep192	T	C	18: 67,834,632	V729A	probably benign	Het
Chd6	G	A	2: 161,021,069	A444V	probably benign	Het
Chl1	A	G	6: 103,708,861	K898E	probably damaging	Het
Chrng	T	C	1: 87,207,497	V154A	probably damaging	Het
Cog1	T	G	11: 113,658,498	M799R	probably benign	Het
Col4a3	G	A	1: 82,669,762		probably null	Het
Coro6	C	A	11: 77,469,091	T366K	probably damaging	Het
Cwh43	G	A	5: 73,441,359	M640I	probably benign	Het
Cyp2c55	A	G	19: 39,031,434	E272G	probably benign	Het
Cyp4f39	A	G	17: 32,483,297	Y256C	probably damaging	Het
Dbx2	G	A	15: 95,632,400	R229*	probably null	Het
Dcdc2a	C	T	13: 25,202,283	A380V	probably benign	Het
En1	G	T	1: 120,603,000		probably benign	Het
F3	T	A	3: 121,729,411	V90E	probably damaging	Het
Fam171a1	A	G	2: 3,225,903	K691R	probably damaging	Het
Foxp2	C	T	6: 15,415,094	A609V	unknown	Het
Hemgn	A	T	4: 46,396,682	S185T	possibly damaging	Het
Hk1	C	T	10: 62,315,515	D33N	probably benign	Het
Igfbp1	T	A	11: 7,201,929	V244D	probably damaging	Het
Insr	A	T	8: 3,161,358	D1160E	probably damaging	Het
Irs1	A	T	1: 82,288,109	Y795*	probably null	Het
Krtap28-10	T	C	1: 83,042,087	K111E	unknown	Het
Lbx1	T	G	19: 45,235,166	D21A	probably benign	Het
Map6	G	T	7: 99,268,985	A322S	probably benign	Het
Mat1a	T	C	14: 41,121,831	Y336H	probably damaging	Het
Mcf2l	A	G	8: 12,880,003	I8V	probably benign	Het
Mettl17	A	G	14: 51,884,851		probably benign	Het
Mllt1	T	C	17: 56,900,295	D183G	possibly damaging	Het
Msmb	T	A	14: 32,150,260	C69*	probably null	Het
Mterf1a	A	G	5: 3,891,425	S148P	probably damaging	Het
Mybl2	A	G	2: 163,080,733	I583V	probably benign	Het
Nbr1	T	A	11: 101,564,694	D91E	probably benign	Het
Notch3	A	G	17: 32,122,116	Y2221H	probably benign	Het
Npat	C	A	9: 53,570,640	T1216N	probably benign	Het
Olfr1082	C	A	2: 86,594,400	V143F	possibly damaging	Het
Olfr127	T	C	17: 37,904,224	L226P	probably damaging	Het
Olfr137	T	A	17: 38,304,981	H160L	probably damaging	Het
Pawr	T	A	10: 108,382,742	Y170N	probably damaging	Het
Pde12	T	C	14: 26,669,125	D143G	possibly damaging	Het
Phactr2	A	G	10: 13,253,732	I264T	probably benign	Het
Pip5k1b	A	G	19: 24,397,058	L53P	probably damaging	Het
Pknox1	T	C	17: 31,599,546	I251T	probably benign	Het
Plcxd1	A	T	5: 110,101,975		probably benign	Het
Polr3c	C	T	3: 96,715,201		probably benign	Het
Ppil2	T	C	16: 17,097,405	N113S	probably benign	Het
Pramel4	G	C	4: 144,068,482	G483R	probably damaging	Het
Prdm10	T	C	9: 31,327,397	L195P	probably damaging	Het
Prss16	A	T	13: 22,003,005	L465Q	possibly damaging	Het
Psg25	G	T	7: 18,529,594	H101Q	possibly damaging	Het
Pstpip2	A	G	18: 77,846,408	D55G	possibly damaging	Het
Rfc1	A	T	5: 65,278,792	D636E	possibly damaging	Het
Scarf2	G	T	16: 17,803,110	C214F	probably damaging	Het
Sirt4	T	C	5: 115,482,645	E156G	probably damaging	Het
Spag6	C	T	2: 18,734,117	S286L	probably benign	Het
Stx17	T	A	4: 48,183,444	H267Q	unknown	Het
Tekt3	T	C	11: 63,070,232	C76R	probably benign	Het
Tln1	A	T	4: 43,538,281	V1807E	possibly damaging	Het
Tnfrsf21	A	G	17: 43,085,481	D552G	probably damaging	Het
Ttn	C	A	2: 76,730,320	V29246L	possibly damaging	Het
Usp43	C	A	11: 67,898,962	C252F	probably damaging	Het
Vmn2r16	T	C	5: 109,340,044	I261T	probably benign	Het
Vwa5b1	T	C	4: 138,581,219	E769G	probably benign	Het
Xrn1	T	A	9: 95,991,193	F670Y	probably benign	Het
Zc3h7b	G	A	15: 81,772,480	R166Q	probably benign	Het
Zdhhc14	A	T	17: 5,725,295	Y274F	possibly damaging	Het
Zeb2	T	A	2: 44,996,127	M973L	probably benign	Het
Zfp638	T	C	6: 83,977,053	V1380A	possibly damaging	Het

Other mutations in Med12l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Med12l	APN	3	59042336	missense	probably damaging	0.98
IGL00561:Med12l	APN	3	59227824	missense	probably benign
IGL00974:Med12l	APN	3	59083014	missense	probably damaging	1.00
IGL01024:Med12l	APN	3	59073341	missense	probably damaging	1.00
IGL01094:Med12l	APN	3	59093655	missense	probably damaging	0.99
IGL01134:Med12l	APN	3	59042275	missense	possibly damaging	0.91
IGL01535:Med12l	APN	3	59262259	missense	probably damaging	1.00
IGL01653:Med12l	APN	3	59261893	missense	probably damaging	1.00
IGL01735:Med12l	APN	3	59263254	missense	probably damaging	1.00
IGL01972:Med12l	APN	3	59261893	missense	probably damaging	1.00
IGL02005:Med12l	APN	3	59244947	missense	probably damaging	1.00
IGL02098:Med12l	APN	3	59275855	missense	possibly damaging	0.92
IGL02115:Med12l	APN	3	59068319	missense	probably benign	0.00
IGL02231:Med12l	APN	3	59245882	missense	probably damaging	1.00
IGL02259:Med12l	APN	3	59245843	missense	probably damaging	1.00
IGL02369:Med12l	APN	3	59257373	missense	probably benign	0.00
IGL02424:Med12l	APN	3	59092722	missense	probably benign	0.21
IGL02501:Med12l	APN	3	59261976	missense	possibly damaging	0.71
IGL02525:Med12l	APN	3	59068368	missense	probably benign	0.01
IGL02530:Med12l	APN	3	59077089	missense	probably damaging	1.00
IGL02735:Med12l	APN	3	59093646	missense	probably damaging	1.00
IGL02865:Med12l	APN	3	59294292	missense	probably damaging	1.00
IGL03183:Med12l	APN	3	59037555	splice site	probably null
IGL03264:Med12l	APN	3	59301367	nonsense	probably null
FR4304:Med12l	UTSW	3	59275982	small insertion	probably benign
FR4340:Med12l	UTSW	3	59275985	small insertion	probably benign
FR4342:Med12l	UTSW	3	59275988	small insertion	probably benign
FR4342:Med12l	UTSW	3	59275994	small insertion	probably benign
FR4449:Med12l	UTSW	3	59275963	nonsense	probably null
FR4548:Med12l	UTSW	3	59275982	small insertion	probably benign
FR4589:Med12l	UTSW	3	59275956	small insertion	probably benign
FR4976:Med12l	UTSW	3	59275977	small insertion	probably benign
P0007:Med12l	UTSW	3	59091395	splice site	probably benign
P0045:Med12l	UTSW	3	59091535	missense	probably damaging	0.99
R0030:Med12l	UTSW	3	59248655	missense	probably damaging	1.00
R0030:Med12l	UTSW	3	59248655	missense	probably damaging	1.00
R0148:Med12l	UTSW	3	59037654	missense	probably damaging	1.00
R0325:Med12l	UTSW	3	59077059	missense	possibly damaging	0.88
R0330:Med12l	UTSW	3	59227702	missense	probably damaging	1.00
R0388:Med12l	UTSW	3	59093504	splice site	probably benign
R0542:Med12l	UTSW	3	59042401	missense	probably damaging	1.00
R0624:Med12l	UTSW	3	59037702	nonsense	probably null
R0625:Med12l	UTSW	3	59247437	missense	probably damaging	1.00
R0671:Med12l	UTSW	3	59264929	missense	probably damaging	1.00
R0706:Med12l	UTSW	3	59261980	missense	probably damaging	1.00
R0785:Med12l	UTSW	3	59260832	missense	probably damaging	1.00
R1054:Med12l	UTSW	3	59248651	missense	probably damaging	0.99
R1102:Med12l	UTSW	3	59244836	missense	probably damaging	0.99
R1391:Med12l	UTSW	3	59037738	missense	probably benign	0.00
R1501:Med12l	UTSW	3	59260835	critical splice donor site	probably null
R1544:Med12l	UTSW	3	59265240	missense	possibly damaging	0.71
R1662:Med12l	UTSW	3	59093617	missense	probably damaging	1.00
R1670:Med12l	UTSW	3	59275958	small insertion	probably benign
R1839:Med12l	UTSW	3	59068319	missense	probably benign
R1854:Med12l	UTSW	3	59260772	missense	probably damaging	1.00
R2045:Med12l	UTSW	3	59262310	nonsense	probably null
R2070:Med12l	UTSW	3	59244905	missense	probably damaging	1.00
R2132:Med12l	UTSW	3	59265282	splice site	probably null
R2290:Med12l	UTSW	3	59244938	missense	probably damaging	1.00
R2325:Med12l	UTSW	3	59232454	missense	probably damaging	0.99
R2352:Med12l	UTSW	3	59240692	missense	probably damaging	1.00
R2484:Med12l	UTSW	3	59297838	missense	probably benign	0.18
R2906:Med12l	UTSW	3	59257082	missense	probably damaging	1.00
R3735:Med12l	UTSW	3	59091495	missense	probably damaging	1.00
R3736:Med12l	UTSW	3	59091495	missense	probably damaging	1.00
R3774:Med12l	UTSW	3	59247942	missense	probably damaging	0.97
R3957:Med12l	UTSW	3	59073168	missense	probably damaging	0.99
R4020:Med12l	UTSW	3	59247942	missense	probably damaging	0.97
R4087:Med12l	UTSW	3	59297921	missense	probably benign	0.00
R4231:Med12l	UTSW	3	59257223	splice site	probably null
R4233:Med12l	UTSW	3	59257223	splice site	probably null
R4235:Med12l	UTSW	3	59257223	splice site	probably null
R4236:Med12l	UTSW	3	59257223	splice site	probably null
R4327:Med12l	UTSW	3	59265267	missense	probably benign	0.01
R4328:Med12l	UTSW	3	59265267	missense	probably benign	0.01
R4346:Med12l	UTSW	3	59031555	missense	probably damaging	1.00
R4543:Med12l	UTSW	3	59091508	missense	probably damaging	1.00
R4559:Med12l	UTSW	3	59007102	critical splice donor site	probably null
R4776:Med12l	UTSW	3	59233212	missense	probably damaging	1.00
R4877:Med12l	UTSW	3	59244793	missense	probably damaging	1.00
R4983:Med12l	UTSW	3	59261929	missense	probably damaging	1.00
R5114:Med12l	UTSW	3	59259688	missense	possibly damaging	0.85
R5125:Med12l	UTSW	3	59267214	missense	possibly damaging	0.83
R5230:Med12l	UTSW	3	59245788	missense	probably damaging	1.00
R5407:Med12l	UTSW	3	59258201	missense	probably damaging	1.00
R5426:Med12l	UTSW	3	59248722	missense	probably damaging	0.98
R5439:Med12l	UTSW	3	59263213	missense	probably null	1.00
R5449:Med12l	UTSW	3	59259706	missense	probably damaging	1.00
R5596:Med12l	UTSW	3	59252350	missense	probably benign	0.45
R5716:Med12l	UTSW	3	59301377	critical splice donor site	probably null
R5833:Med12l	UTSW	3	59265226	missense	possibly damaging	0.95
R5883:Med12l	UTSW	3	59091468	missense	probably damaging	1.00
R6264:Med12l	UTSW	3	59256002	missense	probably damaging	1.00
R6269:Med12l	UTSW	3	59227822	missense	probably damaging	1.00
R6394:Med12l	UTSW	3	59235087	missense	probably damaging	1.00
R6400:Med12l	UTSW	3	59247911	missense	probably damaging	1.00
R6475:Med12l	UTSW	3	59257079	missense	probably damaging	1.00
R6489:Med12l	UTSW	3	59257407	missense	probably damaging	0.99
R6654:Med12l	UTSW	3	59262292	missense	probably damaging	1.00
R6881:Med12l	UTSW	3	59267165	missense	probably benign	0.00
R7110:Med12l	UTSW	3	59262224	missense	possibly damaging	0.92
R7134:Med12l	UTSW	3	59093759	nonsense	probably null
R7137:Med12l	UTSW	3	59258254	missense	probably damaging	1.00
R7159:Med12l	UTSW	3	59276017	missense	probably benign
R7341:Med12l	UTSW	3	59042403	missense	possibly damaging	0.53
R7349:Med12l	UTSW	3	59258325	missense	probably damaging	1.00
R7413:Med12l	UTSW	3	59091550	missense	probably benign	0.00
R7495:Med12l	UTSW	3	59244773	missense	probably damaging	1.00
R7678:Med12l	UTSW	3	59076720	missense	probably damaging	1.00
R7697:Med12l	UTSW	3	59240657	missense	probably damaging	1.00
R7714:Med12l	UTSW	3	59093586	missense	probably benign	0.17
R7725:Med12l	UTSW	3	59255992	missense	probably damaging	1.00
R7846:Med12l	UTSW	3	59264934	missense	probably damaging	1.00
R7852:Med12l	UTSW	3	59247911	missense	probably damaging	1.00
R8080:Med12l	UTSW	3	59265186	missense	probably damaging	1.00
R8181:Med12l	UTSW	3	59261968	missense	probably damaging	1.00
R8223:Med12l	UTSW	3	59086363	missense	possibly damaging	0.79
R8560:Med12l	UTSW	3	59037605	missense	probably damaging	1.00
R8708:Med12l	UTSW	3	59252330	missense	probably benign	0.00
R8947:Med12l	UTSW	3	59077022	splice site	probably benign
R8976:Med12l	UTSW	3	59275908	missense	probably damaging	0.99
R9016:Med12l	UTSW	3	59255873	missense	probably damaging	0.96
R9183:Med12l	UTSW	3	59077077	missense	probably damaging	1.00
R9487:Med12l	UTSW	3	59247932	missense	probably benign
R9526:Med12l	UTSW	3	59076786	missense	probably damaging	0.96
R9802:Med12l	UTSW	3	59261925	missense	probably damaging	1.00
RF004:Med12l	UTSW	3	59275969	small insertion	probably benign
RF011:Med12l	UTSW	3	59275980	small insertion	probably benign
RF013:Med12l	UTSW	3	59275966	small insertion	probably benign
RF020:Med12l	UTSW	3	59275958	small insertion	probably benign
RF021:Med12l	UTSW	3	59073290	missense	probably benign	0.19
RF027:Med12l	UTSW	3	59275967	small insertion	probably benign
RF027:Med12l	UTSW	3	59275981	small insertion	probably benign
RF030:Med12l	UTSW	3	59275989	small insertion	probably benign
RF032:Med12l	UTSW	3	59275981	small insertion	probably benign
RF032:Med12l	UTSW	3	59275985	small insertion	probably benign
RF032:Med12l	UTSW	3	59275989	small insertion	probably benign
RF033:Med12l	UTSW	3	59275981	small insertion	probably benign
RF033:Med12l	UTSW	3	59275987	small insertion	probably benign
RF033:Med12l	UTSW	3	59275995	small insertion	probably benign
RF037:Med12l	UTSW	3	59275956	small insertion	probably benign
RF040:Med12l	UTSW	3	59275967	small insertion	probably benign
RF040:Med12l	UTSW	3	59275989	small insertion	probably benign
RF041:Med12l	UTSW	3	59275985	small insertion	probably benign
RF041:Med12l	UTSW	3	59275995	small insertion	probably benign
RF042:Med12l	UTSW	3	59275956	small insertion	probably benign
RF042:Med12l	UTSW	3	59275967	small insertion	probably benign
RF042:Med12l	UTSW	3	59275981	small insertion	probably benign
RF042:Med12l	UTSW	3	59275995	small insertion	probably benign
RF049:Med12l	UTSW	3	59275969	small insertion	probably benign
RF050:Med12l	UTSW	3	59275973	small insertion	probably benign
RF053:Med12l	UTSW	3	59275993	small insertion	probably benign
RF055:Med12l	UTSW	3	59275983	small insertion	probably benign
RF056:Med12l	UTSW	3	59275993	small insertion	probably benign
RF057:Med12l	UTSW	3	59275980	small insertion	probably benign
RF063:Med12l	UTSW	3	59275958	small insertion	probably benign
RF063:Med12l	UTSW	3	59275973	small insertion	probably benign
X0062:Med12l	UTSW	3	59233179	missense	probably damaging	1.00
Z1176:Med12l	UTSW	3	59091417	missense	probably damaging	0.98
Z1176:Med12l	UTSW	3	59244943	missense	probably damaging	1.00
Z1176:Med12l	UTSW	3	59296117	missense	probably benign	0.00
Z1177:Med12l	UTSW	3	59247875	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGGAGTAACTGTAGCAGTATCC -3'
(R):5'- GAGAAAACCACTGTGGGCTG -3'

Sequencing Primer
(F):5'- GCAGTATCCCAGGGTTGTAATTAC -3'
(R):5'- AACCACTGTGGGCTGAGATTATG -3'

Posted On

2021-07-15