Mutagenetix > Incidental Mutations

Incidental Mutation 'R5716:Tmem94'

451186

Institutional Source

Beutler Lab

Gene Symbol

Tmem94

Ensembl Gene

ENSMUSG00000020747

Gene Name

transmembrane protein 94

Synonyms

2310067B10Rik

MMRRC Submission

043187-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.257) question?

Stock #

R5716 (G1)

Quality Score

198

Status

Not validated

Chromosome

Chromosomal Location

115765433-115799366 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115792428 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 679 (V679A)

Ref Sequence

ENSEMBL: ENSMUSP00000099322 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000093912
AA Change: V679A

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000091440
Gene: ENSMUSG00000020747
AA Change: V679A

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 benign
Transcript: ENSMUST00000103033
AA Change: V679A

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099322
Gene: ENSMUSG00000020747
AA Change: V679A

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

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	C	11: 58,421,768	V24A	possibly damaging	Het
Abca14	G	A	7: 120,246,994		probably null	Het
Acad12	A	G	5: 121,609,983	V124A	probably benign	Het
Alg1	A	T	16: 5,239,956	D238V	probably damaging	Het
Bcar3	A	G	3: 122,512,915	E179G	probably damaging	Het
Brf2	A	G	8: 27,126,046	S104P	probably benign	Het
Coq8a	A	T	1: 180,179,260	Y21N	possibly damaging	Het
Cramp1l	A	G	17: 24,974,735	F924L	probably damaging	Het
Dpyd	G	T	3: 118,899,179	C324F	probably damaging	Het
Eif4b	T	C	15: 102,082,059	Y33H	probably benign	Het
Fry	C	T	5: 150,370,221	Q460*	probably null	Het
Fryl	T	C	5: 73,100,465	I665V	probably benign	Het
Gm9573	A	C	17: 35,620,783		probably benign	Het
Gpank1	A	G	17: 35,123,253	K90E	probably damaging	Het
Hexdc	A	G	11: 121,221,562	I482V	probably benign	Het
Hmcn2	G	A	2: 31,336,567	E185K	probably damaging	Het
Hmcn2	A	G	2: 31,458,738	E4922G	possibly damaging	Het
Ino80d	A	T	1: 63,058,697	D679E	probably benign	Het
Kalrn	A	T	16: 33,987,176	C2608S	probably benign	Het
Kars	T	A	8: 112,003,442		probably null	Het
Lcn2	A	G	2: 32,385,813	V211A	possibly damaging	Het
Lsmem1	A	T	12: 40,180,693	V70E	possibly damaging	Het
Med12l	T	C	3: 59,301,377		probably null	Het
Megf11	T	C	9: 64,506,110	F60L	possibly damaging	Het
Neb	T	A	2: 52,210,584	H4438L	probably benign	Het
Nuf2	C	A	1: 169,522,389	V107F	probably benign	Het
Olfr127	A	T	17: 37,903,828	Y94F	probably benign	Het
Olfr1501	C	T	19: 13,838,639	C178Y	probably damaging	Het
Olfr767	T	A	10: 129,079,555	N136I	probably benign	Het
Pabpn1l	A	G	8: 122,620,421	V215A	probably damaging	Het
Pnn	A	G	12: 59,071,872	I414V	probably benign	Het
Rab11fip3	A	G	17: 26,036,664	Y539H	probably damaging	Het
Rassf4	A	G	6: 116,661,867	V13A	probably benign	Het
Sephs1	T	C	2: 4,884,578	F56L	probably benign	Het
Sh3rf3	C	T	10: 59,131,283	P816S	probably benign	Het
Skint10	A	G	4: 112,711,647	L291P	probably damaging	Het
Thsd7a	T	A	6: 12,343,148	I1157L	probably benign	Het
Tmem184c	T	C	8: 77,606,407	H85R	possibly damaging	Het
Tpcn2	A	C	7: 145,257,813	F566V	possibly damaging	Het
Uqcrc1	A	G	9: 108,947,405	N298D	probably benign	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
IGL02450:Tmem94	APN	11	115793071	missense	probably damaging	1.00
IGL02623:Tmem94	APN	11	115796401	nonsense	probably null
IGL02816:Tmem94	APN	11	115788704	unclassified	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	unclassified	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
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	intron	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
RF003:Tmem94	UTSW	11	115796132	missense	probably damaging	1.00
X0024:Tmem94	UTSW	11	115786253	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- CTGCTGTGATATAAAGATGTGAGGG -3'
(R):5'- TGGAGAGCAGCCTAGCATTC -3'

Sequencing Primer
(F):5'- AAGCGAGCTAGATTCTGTCC -3'
(R):5'- GCCTAGCATTCACCGGACTCAG -3'

Posted On

2017-01-03