Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02123:Tmem94'

280725

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem94

Ensembl Gene

ENSMUSG00000020747

Gene Name

transmembrane protein 94

Synonyms

2310067B10Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.255) question?

Stock #

IGL02123

Quality Score

Status

Chromosome

Chromosomal Location

115765433-115799366 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115787538 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 196 (S196P)

Ref Sequence

ENSEMBL: ENSMUSP00000091440 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093912] [ENSMUST00000103033] [ENSMUST00000103034] [ENSMUST00000125918] [ENSMUST00000136720] [ENSMUST00000141871]

AlphaFold

Q7TSH8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093912
AA Change: S196P

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000091440
Gene: ENSMUSG00000020747
AA Change: S196P

Domain	Start	End	E-Value	Type
transmembrane domain	67	89	N/A	INTRINSIC
transmembrane domain	94	113	N/A	INTRINSIC
low complexity region	115	129	N/A	INTRINSIC
low complexity region	217	226	N/A	INTRINSIC
transmembrane domain	280	302	N/A	INTRINSIC
transmembrane domain	317	339	N/A	INTRINSIC
low complexity region	397	407	N/A	INTRINSIC
low complexity region	460	470	N/A	INTRINSIC
low complexity region	586	599	N/A	INTRINSIC
low complexity region	920	929	N/A	INTRINSIC
SCOP:d1eula_	979	1282	6e-10	SMART
transmembrane domain	1310	1332	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103033
AA Change: S196P

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099322
Gene: ENSMUSG00000020747
AA Change: S196P

Domain	Start	End	E-Value	Type
transmembrane domain	67	89	N/A	INTRINSIC
transmembrane domain	94	113	N/A	INTRINSIC
low complexity region	115	129	N/A	INTRINSIC
low complexity region	217	226	N/A	INTRINSIC
transmembrane domain	280	302	N/A	INTRINSIC
transmembrane domain	317	339	N/A	INTRINSIC
low complexity region	397	407	N/A	INTRINSIC
low complexity region	460	470	N/A	INTRINSIC
low complexity region	586	599	N/A	INTRINSIC
low complexity region	920	929	N/A	INTRINSIC
low complexity region	1096	1109	N/A	INTRINSIC
Pfam:Cation_ATPase_C	1120	1334	5.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103034

SMART Domains

Protein: ENSMUSP00000099323
Gene: ENSMUSG00000020747

Domain	Start	End	E-Value	Type
transmembrane domain	52	69	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125918

SMART Domains

Protein: ENSMUSP00000116666
Gene: ENSMUSG00000020747

Domain	Start	End	E-Value	Type
low complexity region	105	115	N/A	INTRINSIC
low complexity region	272	285	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136720

SMART Domains

Protein: ENSMUSP00000122111
Gene: ENSMUSG00000020747

Domain	Start	End	E-Value	Type
low complexity region	72	84	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141871

SMART Domains

Protein: ENSMUSP00000118396
Gene: ENSMUSG00000020747

Domain	Start	End	E-Value	Type
low complexity region	72	84	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	T	C	7: 28,629,489	T31A	probably benign	Het
Aldh16a1	G	A	7: 45,146,035	P400L	probably damaging	Het
Ampd3	T	C	7: 110,802,559	V429A	possibly damaging	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cldn11	C	T	3: 31,150,187	T13M	probably benign	Het
Cngb3	C	A	4: 19,367,801	Q237K	probably damaging	Het
Col12a1	A	G	9: 79,662,458		probably null	Het
Copa	T	A	1: 172,112,128	L621H	probably damaging	Het
Dbn1	T	C	13: 55,476,740	D332G	possibly damaging	Het
Drc1	T	C	5: 30,347,104	S197P	probably benign	Het
E2f2	A	G	4: 136,172,848	N23S	probably benign	Het
Epb41l2	T	A	10: 25,460,844	L246H	probably damaging	Het
Fam13b	G	A	18: 34,445,618		probably benign	Het
Fam184b	A	G	5: 45,639,151	M30T	possibly damaging	Het
Fam71d	T	C	12: 78,734,207		probably null	Het
Fn3krp	G	A	11: 121,429,444	R205H	probably benign	Het
Fndc11	A	G	2: 181,221,650	I83V	probably benign	Het
Gm3460	C	T	14: 6,619,542	R150H	probably benign	Het
Hs6st1	T	A	1: 36,103,871	F296I	possibly damaging	Het
Igsf10	T	A	3: 59,318,660	I2531F	probably damaging	Het
Klhl40	T	C	9: 121,779,923	F385L	probably benign	Het
Krt83	A	T	15: 101,487,585	M302K	possibly damaging	Het
Lrrc43	A	T	5: 123,494,279	I162F	probably damaging	Het
Map3k21	A	G	8: 125,926,110	E325G	probably damaging	Het
Mpo	A	T	11: 87,794,795	N33I	probably benign	Het
Mpp4	A	G	1: 59,161,466		probably null	Het
Muc5b	C	T	7: 141,863,757	T3480I	possibly damaging	Het
Myo6	T	C	9: 80,264,272		probably benign	Het
Nostrin	C	T	2: 69,156,109		probably benign	Het
Nphp1	T	C	2: 127,754,049	M498V	probably benign	Het
Nr4a2	A	T	2: 57,111,655	L199Q	possibly damaging	Het
Pcdhb6	A	T	18: 37,335,820	N598I	probably damaging	Het
Pex19	T	A	1: 172,134,286	M207K	probably damaging	Het
Pfkfb4	C	T	9: 109,025,110	R351W	probably damaging	Het
Plekha2	T	C	8: 25,042,729	K409E	probably damaging	Het
Plxna2	T	C	1: 194,794,383	L1169P	probably damaging	Het
Pmpcb	A	G	5: 21,743,375		probably benign	Het
Ptrh1	T	C	2: 32,776,814		probably benign	Het
Rc3h2	T	C	2: 37,398,253	E439G	probably damaging	Het
Ric1	C	T	19: 29,594,800	A665V	probably benign	Het
Stx18	T	A	5: 38,128,103	V219D	probably damaging	Het
Taf7	A	T	18: 37,642,480		probably benign	Het
Tbc1d8	A	G	1: 39,380,236	S766P	probably damaging	Het
Tbc1d8	A	G	1: 39,376,907	I895T	possibly damaging	Het
Tekt3	C	A	11: 63,083,940	H362N	probably benign	Het
Tmem214	G	A	5: 30,872,746	A296T	probably benign	Het
Vmn2r14	T	C	5: 109,220,067	Y353C	probably damaging	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Vmn2r90	T	G	17: 17,733,482	M636R	probably benign	Het
Vmn2r98	T	A	17: 19,080,679	C648S	probably damaging	Het
Zfpm2	G	A	15: 41,102,195	C560Y	probably damaging	Het

Other mutations in Tmem94

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Tmem94	APN	11	115795328	missense	probably damaging	0.99
IGL01086:Tmem94	APN	11	115790284	missense	probably benign	0.25
IGL01314:Tmem94	APN	11	115790009	missense	probably damaging	0.99
IGL02355:Tmem94	APN	11	115794745	missense	probably damaging	1.00
IGL02362:Tmem94	APN	11	115794745	missense	probably damaging	1.00
IGL02366:Tmem94	APN	11	115797432	missense	probably damaging	0.98
IGL02450:Tmem94	APN	11	115793071	missense	probably damaging	1.00
IGL02623:Tmem94	APN	11	115796401	nonsense	probably null
IGL02816:Tmem94	APN	11	115788704	splice site	probably null
IGL02836:Tmem94	APN	11	115792939	missense	probably damaging	1.00
IGL03061:Tmem94	APN	11	115792421	missense	possibly damaging	0.94
IGL03109:Tmem94	APN	11	115792398	missense	probably damaging	1.00
IGL03255:Tmem94	APN	11	115792068	unclassified	probably benign
IGL03397:Tmem94	APN	11	115787568	unclassified	probably benign
capitulate	UTSW	11	115796746	missense	probably damaging	1.00
R0083:Tmem94	UTSW	11	115796724	unclassified	probably benign
R0336:Tmem94	UTSW	11	115787385	missense	probably benign
R0370:Tmem94	UTSW	11	115788717	missense	probably damaging	1.00
R0494:Tmem94	UTSW	11	115794781	splice site	probably null
R0638:Tmem94	UTSW	11	115792060	splice site	probably null
R0647:Tmem94	UTSW	11	115796795	missense	probably damaging	1.00
R0900:Tmem94	UTSW	11	115791978	missense	probably benign	0.00
R1469:Tmem94	UTSW	11	115795091	unclassified	probably benign
R1616:Tmem94	UTSW	11	115796145	critical splice donor site	probably null
R1621:Tmem94	UTSW	11	115785845	missense	probably benign
R1682:Tmem94	UTSW	11	115790230	missense	probably damaging	1.00
R1723:Tmem94	UTSW	11	115794748	missense	probably damaging	1.00
R1760:Tmem94	UTSW	11	115796754	missense	probably damaging	1.00
R1826:Tmem94	UTSW	11	115793213	nonsense	probably null
R1926:Tmem94	UTSW	11	115792900	missense	possibly damaging	0.67
R1956:Tmem94	UTSW	11	115788674	missense	possibly damaging	0.75
R2033:Tmem94	UTSW	11	115794328	missense	possibly damaging	0.65
R2135:Tmem94	UTSW	11	115794749	missense	probably benign
R2419:Tmem94	UTSW	11	115796815	missense	probably damaging	1.00
R2511:Tmem94	UTSW	11	115791961	missense	probably damaging	1.00
R3932:Tmem94	UTSW	11	115789254	missense	probably benign	0.00
R4708:Tmem94	UTSW	11	115786295	missense	possibly damaging	0.87
R4812:Tmem94	UTSW	11	115796112	nonsense	probably null
R5026:Tmem94	UTSW	11	115793104	missense	probably damaging	1.00
R5714:Tmem94	UTSW	11	115793190	missense	probably benign	0.04
R5716:Tmem94	UTSW	11	115792428	missense	probably benign	0.17
R6180:Tmem94	UTSW	11	115791031	critical splice acceptor site	probably null
R6295:Tmem94	UTSW	11	115796746	missense	probably damaging	1.00
R6594:Tmem94	UTSW	11	115798286	missense	probably damaging	1.00
R6696:Tmem94	UTSW	11	115791988	missense	probably damaging	1.00
R6883:Tmem94	UTSW	11	115796461	missense	probably damaging	1.00
R6939:Tmem94	UTSW	11	115785830	missense	possibly damaging	0.47
R7060:Tmem94	UTSW	11	115792938	missense	probably damaging	1.00
R7171:Tmem94	UTSW	11	115790955	splice site	probably null
R7181:Tmem94	UTSW	11	115794774	missense	probably damaging	0.97
R7290:Tmem94	UTSW	11	115786256	missense	possibly damaging	0.54
R7292:Tmem94	UTSW	11	115786256	missense	possibly damaging	0.54
R7345:Tmem94	UTSW	11	115786256	missense	possibly damaging	0.54
R7346:Tmem94	UTSW	11	115786256	missense	possibly damaging	0.54
R7378:Tmem94	UTSW	11	115794174	missense	probably damaging	1.00
R7380:Tmem94	UTSW	11	115796145	critical splice donor site	probably null
R7460:Tmem94	UTSW	11	115786256	missense	possibly damaging	0.54
R7461:Tmem94	UTSW	11	115786256	missense	possibly damaging	0.54
R7463:Tmem94	UTSW	11	115786256	missense	possibly damaging	0.54
R7464:Tmem94	UTSW	11	115786256	missense	possibly damaging	0.54
R7465:Tmem94	UTSW	11	115786256	missense	possibly damaging	0.54
R7673:Tmem94	UTSW	11	115788378	missense	probably benign	0.05
R7995:Tmem94	UTSW	11	115797971	missense	probably damaging	1.00
R8094:Tmem94	UTSW	11	115788392	critical splice donor site	probably null
R8447:Tmem94	UTSW	11	115797197	missense	possibly damaging	0.93
R8447:Tmem94	UTSW	11	115797870	missense	probably benign
R8825:Tmem94	UTSW	11	115797375	missense	probably benign	0.00
R8910:Tmem94	UTSW	11	115797426	missense	probably damaging	1.00
R9226:Tmem94	UTSW	11	115792365	missense	probably damaging	1.00
RF003:Tmem94	UTSW	11	115796132	missense	probably damaging	1.00
X0024:Tmem94	UTSW	11	115786253	missense	probably benign	0.34

Posted On

2015-04-16