Mutagenetix > Incidental Mutations

Incidental Mutation 'R2135:Tmem94'

235735

Institutional Source

Beutler Lab

Gene Symbol

Tmem94

Ensembl Gene

ENSMUSG00000020747

Gene Name

transmembrane protein 94

Synonyms

2310067B10Rik

MMRRC Submission

040138-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R2135 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115765433-115799366 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115794749 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 943 (I943V)

Ref Sequence

ENSEMBL: ENSMUSP00000099322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041684] [ENSMUST00000093912] [ENSMUST00000103033] [ENSMUST00000125918]

Predicted Effect

probably benign
Transcript: ENSMUST00000041684

SMART Domains

Protein: ENSMUSP00000041328
Gene: ENSMUSG00000034471

Domain	Start	End	E-Value	Type
ANK	2	32	1.27e3	SMART
ANK	48	77	3.01e-4	SMART
ANK	81	110	3.41e-3	SMART
ANK	114	143	1.4e-4	SMART
ANK	147	176	3.26e0	SMART
ANK	188	217	3.33e-6	SMART
ANK	220	249	4.82e-3	SMART
SH3	284	346	1.13e-6	SMART
SAM	485	551	8.53e-12	SMART
SAM	554	621	1.41e-12	SMART
low complexity region	762	774	N/A	INTRINSIC
Pfam:Caskin-Pro-rich	793	883	1.4e-32	PFAM
low complexity region	904	921	N/A	INTRINSIC
low complexity region	925	944	N/A	INTRINSIC
low complexity region	961	973	N/A	INTRINSIC
low complexity region	1042	1069	N/A	INTRINSIC
low complexity region	1084	1090	N/A	INTRINSIC
low complexity region	1120	1132	N/A	INTRINSIC
Pfam:Caskin-tail	1144	1201	4.5e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093912
AA Change: I943V

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

SMART Domains

Protein: ENSMUSP00000091440
Gene: ENSMUSG00000020747
AA Change: I943V

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: I943V

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

SMART Domains

Protein: ENSMUSP00000099322
Gene: ENSMUSG00000020747
AA Change: I943V

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

Meta Mutation Damage Score

0.0581

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,737,643	H116Q	probably benign	Het
9230110F15Rik	A	C	9: 35,839,183		probably null	Het
Adamts16	C	A	13: 70,801,007	L178F	probably damaging	Het
Adgrv1	A	G	13: 81,524,557		probably null	Het
Akap9	A	G	5: 4,064,509	T46A	probably damaging	Het
Ankrd2	T	C	19: 42,044,059	L253P	probably damaging	Het
Arap3	T	C	18: 37,974,456	D1336G	probably damaging	Het
Cacna2d2	C	A	9: 107,526,513	L992I	possibly damaging	Het
Cdhr2	T	A	13: 54,720,947	I574N	probably damaging	Het
Cecr2	C	T	6: 120,720,962	T74M	probably damaging	Het
Ces5a	C	A	8: 93,499,741	E481D	probably benign	Het
Cfap74	C	G	4: 155,429,940	N544K	probably damaging	Het
Cfap74	T	A	4: 155,429,951	L548Q	probably damaging	Het
Cfb	C	T	17: 34,857,278	V1145I	possibly damaging	Het
CK137956	A	G	4: 127,951,640		probably benign	Het
Commd10	T	A	18: 46,990,537	L153Q	possibly damaging	Het
Cox6c	T	C	15: 35,937,283		probably benign	Het
Dock4	A	G	12: 40,745,668	Y828C	probably benign	Het
Ermp1	T	C	19: 29,646,065	D119G	possibly damaging	Het
Ext1	G	T	15: 53,101,744	Q409K	possibly damaging	Het
Fat4	A	T	3: 38,980,733	I2845F	probably damaging	Het
Frmd6	A	G	12: 70,894,997	N494S	probably benign	Het
Fscn3	A	G	6: 28,431,584	T305A	probably benign	Het
Gbx1	G	T	5: 24,526,222	R199S	possibly damaging	Het
Gm11437	T	C	11: 84,153,812	R192G	probably damaging	Het
Gucy2c	T	A	6: 136,723,728	D572V	probably damaging	Het
Idh1	A	C	1: 65,161,919	M291R	probably damaging	Het
Kcnt2	A	G	1: 140,428,813	Y330C	probably damaging	Het
Kdm4a	A	G	4: 118,142,459	L922P	probably damaging	Het
L3mbtl2	A	G	15: 81,682,014	D346G	possibly damaging	Het
Lsm14a	A	G	7: 34,371,184	S96P	probably damaging	Het
Ltn1	A	G	16: 87,382,713	L1520P	probably damaging	Het
March6	A	T	15: 31,509,764	C26*	probably null	Het
Msra	G	A	14: 64,123,208	P228L	probably damaging	Het
Mycbp2	A	T	14: 103,145,942	D395E	probably benign	Het
Mycbp2	T	C	14: 103,208,893	Y1800C	probably damaging	Het
Ncr1	C	A	7: 4,340,757		probably benign	Het
Nkd1	T	C	8: 88,591,650	I201T	probably benign	Het
Nsrp1	A	T	11: 77,055,008		probably benign	Het
Olfr330	A	C	11: 58,529,785	I67S	probably damaging	Het
Olfr873	T	A	9: 20,300,297	D32E	probably benign	Het
Pkdrej	T	C	15: 85,816,506	Y1743C	probably damaging	Het
Plekha5	T	A	6: 140,580,499	H281Q	possibly damaging	Het
Ppp2r3a	A	C	9: 101,211,558	M522R	probably damaging	Het
Prdm12	T	C	2: 31,640,313	F72S	possibly damaging	Het
Prima1	A	T	12: 103,202,690	F106L	probably damaging	Het
Ptchd4	A	G	17: 42,317,074	H142R	probably benign	Het
Rasgrf2	G	A	13: 91,972,255	A793V	probably benign	Het
Rbsn	T	A	6: 92,189,873	M597L	probably benign	Het
Ripk4	A	T	16: 97,743,733	D571E	probably damaging	Het
Rp9	T	C	9: 22,468,129	K25E	possibly damaging	Het
Sec31b	T	C	19: 44,534,696	S211G	probably damaging	Het
Shank2	C	T	7: 144,411,234	P1070S	probably damaging	Het
Sla	A	G	15: 66,782,714	V241A	probably benign	Het
Slc25a40	A	G	5: 8,427,489	T25A	possibly damaging	Het
Slc3a2	A	G	19: 8,708,244	S164P	probably benign	Het
Slc7a5	A	T	8: 121,883,705	W457R	probably null	Het
Slco6c1	A	G	1: 97,104,817	M303T	probably benign	Het
Smim10l1	T	C	6: 133,105,526	F12S	probably damaging	Het
Syne2	A	G	12: 75,952,786	I2318V	probably damaging	Het
Tecta	A	C	9: 42,340,285	C1781G	probably damaging	Het
Timmdc1	A	T	16: 38,498,951	H280Q	probably benign	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Tmem30b	A	G	12: 73,545,333	L336P	probably damaging	Het
Tshb	A	G	3: 102,778,148		probably null	Het
Vcpip1	A	G	1: 9,747,810	V116A	probably benign	Het
Vmn2r76	A	G	7: 86,231,011	Y156H	probably benign	Het
Zcrb1	T	C	15: 93,397,186	N23S	probably damaging	Het
Zfyve26	T	C	12: 79,246,052	R2108G	possibly 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
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
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	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'- AGGCTGTGTACCGTTTGCAG -3'
(R):5'- CCAGCAACGGTACATTGTCG -3'

Sequencing Primer
(F):5'- ACCGTTTGCAGGGCATG -3'
(R):5'- CAGCAACGGTACATTGTCGATGTTC -3'

Posted On

2014-10-01