Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02450:Tmem94'

294140

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: 0.290) question?

Stock #

IGL02450

Quality Score

Status

Chromosome

Chromosomal Location

115765433-115799366 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115793071 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 739 (D739G)

Ref Sequence

ENSEMBL: ENSMUSP00000099322 (fasta)

Gene Model

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

AlphaFold

Q7TSH8

Predicted Effect

probably damaging
Transcript: ENSMUST00000093912
AA Change: D739G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091440
Gene: ENSMUSG00000020747
AA Change: D739G

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

probably damaging
Transcript: ENSMUST00000103033
AA Change: D739G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099322
Gene: ENSMUSG00000020747
AA Change: D739G

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: 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

noncoding transcript
Transcript: ENSMUST00000175989

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	A	G	15: 81,914,762	*781W	probably null	Het
Adamts16	C	A	13: 70,836,300	R81S	probably damaging	Het
Aldh1l1	A	G	6: 90,569,873	D386G	probably benign	Het
Anxa6	G	A	11: 54,994,941	R393W	probably damaging	Het
Bdnf	G	A	2: 109,723,604	V108I	possibly damaging	Het
Bpgm	C	T	6: 34,487,464	R39W	probably damaging	Het
Cd101	T	C	3: 100,993,738	E1006G	probably damaging	Het
Cd109	A	T	9: 78,695,850	E972V	possibly damaging	Het
Cdhr3	T	A	12: 33,082,225	Q133L	probably benign	Het
Cdk5r1	C	T	11: 80,477,840	A111V	probably benign	Het
Cnga4	A	T	7: 105,405,748	I77F	probably damaging	Het
Egfem1	G	A	3: 29,657,268		probably null	Het
Fam205c	A	G	4: 42,874,127	S14P	probably benign	Het
Fbxl21	T	A	13: 56,526,953	V39D	possibly damaging	Het
Gimap6	T	C	6: 48,704,417	I94M	probably benign	Het
Glis1	T	C	4: 107,627,529	V407A	probably benign	Het
Gm5784	C	T	12: 19,387,969		noncoding transcript	Het
Gm9839	A	T	1: 32,520,883		probably benign	Het
Heatr5a	T	A	12: 51,945,430	M566L	probably benign	Het
Jph1	G	A	1: 17,003,977	P606S	possibly damaging	Het
Jup	C	T	11: 100,378,357	C410Y	probably damaging	Het
Kif23	A	G	9: 61,923,957	M777T	probably benign	Het
Lifr	G	T	15: 7,190,765	D959Y	probably damaging	Het
Lsm1	C	A	8: 25,793,778	L73I	possibly damaging	Het
Maneal	G	A	4: 124,857,135	A276V	probably benign	Het
Myh4	A	G	11: 67,251,809	D932G	probably damaging	Het
Nipbl	C	T	15: 8,343,574	V1063M	probably damaging	Het
Nlrx1	A	G	9: 44,253,501	V882A	probably benign	Het
Obox6	A	G	7: 15,833,713	C270R	probably damaging	Het
Olfr525	A	G	7: 140,323,227	H176R	possibly damaging	Het
Pard3b	A	G	1: 62,532,676	I925V	possibly damaging	Het
Pdhx	A	G	2: 103,042,249	S163P	probably benign	Het
Pdzrn3	T	C	6: 101,354,500	D271G	probably damaging	Het
Plec	A	G	15: 76,191,315	I399T	probably damaging	Het
Pthlh	T	G	6: 147,257,168	D98A	possibly damaging	Het
Spock3	T	A	8: 63,245,215		probably null	Het
Tgtp2	C	T	11: 49,059,490	G85D	probably benign	Het
Washc5	G	A	15: 59,332,317	R706*	probably null	Het
Zfp13	C	T	17: 23,576,098	A493T	probably benign	Het
Zscan20	G	T	4: 128,586,657	D680E	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
IGL02123:Tmem94	APN	11	115787538	missense	possibly damaging	0.51
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
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