Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01314:Tmem94'

73798

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: 0.267) question?

Stock #

IGL01314

Quality Score

Status

Chromosome

Chromosomal Location

115765433-115799366 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 115790009 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 113 (H113N)

Ref Sequence

ENSEMBL: ENSMUSP00000116666 (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: H405N

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000091440
Gene: ENSMUSG00000020747
AA Change: H405N

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: H405N

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099322
Gene: ENSMUSG00000020747
AA Change: H405N

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 damaging
Transcript: ENSMUST00000125918
AA Change: H113N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116666
Gene: ENSMUSG00000020747
AA Change: H113N

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430F08Rik	A	C	10: 100,573,611	D313E	probably damaging	Het
Adamts12	C	T	15: 11,071,853	A161V	probably benign	Het
Bptf	A	T	11: 107,054,853	V2520E	probably damaging	Het
C87436	T	C	6: 86,457,855	F395S	probably damaging	Het
Capn1	T	C	19: 5,989,984		probably benign	Het
Ceacam5	T	A	7: 17,747,256	Y309*	probably null	Het
Clasp2	A	G	9: 113,906,127	D1011G	possibly damaging	Het
Csmd3	A	G	15: 47,849,755	Y1608H	probably damaging	Het
Dcaf1	T	C	9: 106,834,191	I77T	probably benign	Het
Dcdc2a	T	C	13: 25,102,604	L170P	probably damaging	Het
Ddx28	A	G	8: 106,010,580	F282S	probably damaging	Het
Egf	A	G	3: 129,686,260	I497T	probably benign	Het
Emsy	A	G	7: 98,593,455	V1159A	probably benign	Het
Fam46c	T	C	3: 100,473,174	K89E	probably benign	Het
Hk3	C	A	13: 55,007,063		probably benign	Het
Htt	A	G	5: 34,878,856	D2049G	probably benign	Het
Inpp5d	C	A	1: 87,683,750	S45*	probably null	Het
Irf8	A	G	8: 120,753,380	Y119C	probably damaging	Het
Klk1b4	T	C	7: 44,211,176		probably null	Het
Macf1	A	G	4: 123,486,720	S1273P	probably damaging	Het
Man2c1	A	T	9: 57,141,819	H867L	probably benign	Het
Mgat4e	T	C	1: 134,541,449	T286A	probably damaging	Het
Mug2	T	C	6: 122,081,279	F1267L	possibly damaging	Het
Necab1	T	A	4: 15,005,079	E128D	probably damaging	Het
Olfr1331	G	A	4: 118,869,131	V117I	probably benign	Het
Pds5a	A	G	5: 65,615,294	V1322A	probably benign	Het
Poc1b	C	T	10: 99,129,641	T144I	probably damaging	Het
Prcc	T	A	3: 87,870,080	N196Y	probably damaging	Het
Psma5	G	A	3: 108,279,795	V237M	possibly damaging	Het
Rap1gds1	A	G	3: 139,050,561	L11P	probably damaging	Het
Rapgef3	A	G	15: 97,748,223	F132S	probably damaging	Het
Rgs13	T	G	1: 144,171,441	D14A	probably benign	Het
Stxbp4	A	G	11: 90,621,649		probably benign	Het
Tcerg1	C	A	18: 42,573,309	A1017D	probably damaging	Het
Tmem79	T	C	3: 88,332,576	I276V	possibly damaging	Het
Vil1	G	A	1: 74,428,238	D715N	probably damaging	Het
Vmn2r96	A	G	17: 18,582,964	T187A	probably benign	Het
Zfhx4	T	A	3: 5,413,094	S3590T	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
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
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

2013-10-07