Mutagenetix > Incidental Mutation

Incidental Mutation 'R1616:Tmem94'

174282

Institutional Source

Beutler Lab

Gene Symbol

Tmem94

Ensembl Gene

ENSMUSG00000020747

Gene Name

transmembrane protein 94

Synonyms

2310067B10Rik

MMRRC Submission

039653-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R1616 (G1)

Quality Score

208

Status

Not validated

Chromosome

Chromosomal Location

115656245-115689859 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 115686971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099322 (fasta)

Gene Model

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

AlphaFold

Q7TSH8

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 null
Transcript: ENSMUST00000093912

SMART Domains

Protein: ENSMUSP00000091440
Gene: ENSMUSG00000020747

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 null
Transcript: ENSMUST00000103033

SMART Domains

Protein: ENSMUSP00000099322
Gene: ENSMUSG00000020747

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

noncoding transcript
Transcript: ENSMUST00000125658

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

0.9503

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.3%
20x: 85.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406P04Rik	T	C	10: 20,187,087 (GRCm39)		probably benign	Het
A1cf	A	G	19: 31,912,175 (GRCm39)	E430G	probably damaging	Het
Aacs	T	A	5: 125,561,590 (GRCm39)		probably null	Het
Acot12	G	A	13: 91,920,886 (GRCm39)	V331I	probably benign	Het
Acp7	A	G	7: 28,310,503 (GRCm39)	W445R	probably damaging	Het
Actl11	C	A	9: 107,809,135 (GRCm39)	Q1153K	probably benign	Het
Actr8	A	G	14: 29,704,601 (GRCm39)	T34A	possibly damaging	Het
Ahnak	A	G	19: 8,986,351 (GRCm39)	D2545G	possibly damaging	Het
Ap5z1	A	G	5: 142,457,991 (GRCm39)	Y388C	probably benign	Het
Apol7a	C	T	15: 77,273,806 (GRCm39)	G219S	probably damaging	Het
Arid1b	T	A	17: 5,389,569 (GRCm39)	I1705N	probably damaging	Het
Bod1l	T	C	5: 41,966,058 (GRCm39)	Q2669R	probably benign	Het
Braf	A	T	6: 39,620,067 (GRCm39)	S504T	probably benign	Het
Cbl	A	T	9: 44,064,197 (GRCm39)	Y780N	probably damaging	Het
Cd86	T	C	16: 36,449,338 (GRCm39)	I20V	probably benign	Het
Cep290	T	G	10: 100,404,698 (GRCm39)	D2353E	probably benign	Het
Ckmt2	G	A	13: 92,007,328 (GRCm39)	R289C	probably benign	Het
Col3a1	T	C	1: 45,367,648 (GRCm39)		probably null	Het
Cyp4f16	T	A	17: 32,761,942 (GRCm39)	Y163*	probably null	Het
Dimt1	T	C	13: 107,089,958 (GRCm39)	V227A	possibly damaging	Het
Dnah6	A	T	6: 73,077,095 (GRCm39)	M2338K	probably benign	Het
Dock4	T	G	12: 40,719,044 (GRCm39)	I274S	probably damaging	Het
Enthd1	T	C	15: 80,336,586 (GRCm39)	D616G	probably damaging	Het
Fignl2	T	C	15: 100,951,997 (GRCm39)	E95G	probably damaging	Het
Foxn1	A	G	11: 78,249,692 (GRCm39)	M611T	probably benign	Het
Foxs1	T	C	2: 152,774,559 (GRCm39)	S165G	probably benign	Het
Fzd3	G	T	14: 65,472,956 (GRCm39)	Q271K	probably benign	Het
Hadhb	A	T	5: 30,371,713 (GRCm39)	I55F	probably damaging	Het
Hipk3	G	A	2: 104,264,090 (GRCm39)	Q824*	probably null	Het
Hps1	G	A	19: 42,755,624 (GRCm39)	R201W	probably damaging	Het
Kif21b	T	C	1: 136,099,423 (GRCm39)	S1477P	probably damaging	Het
Kif26a	A	T	12: 112,123,680 (GRCm39)		probably null	Het
Krt90	T	C	15: 101,469,026 (GRCm39)	E172G	possibly damaging	Het
Lama4	T	G	10: 38,951,446 (GRCm39)	F1064V	probably damaging	Het
Leng9	A	G	7: 4,151,902 (GRCm39)	V258A	probably benign	Het
Lgi2	A	C	5: 52,703,980 (GRCm39)	V217G	probably benign	Het
Lpgat1	T	C	1: 191,495,741 (GRCm39)	I310T	possibly damaging	Het
Ltbp3	A	G	19: 5,796,995 (GRCm39)	Y374C	probably damaging	Het
Magi2	C	A	5: 20,814,324 (GRCm39)	T1075K	probably damaging	Het
Man2c1	T	C	9: 57,042,793 (GRCm39)	I221T	probably benign	Het
Mydgf	A	G	17: 56,486,415 (GRCm39)	M72T	possibly damaging	Het
Myo1b	T	C	1: 51,815,474 (GRCm39)	N624S	probably damaging	Het
Myo5c	T	A	9: 75,203,299 (GRCm39)	M1465K	probably damaging	Het
Nek4	A	T	14: 30,709,094 (GRCm39)	D716V	probably damaging	Het
Nfxl1	T	A	5: 72,686,380 (GRCm39)	Q607L	probably benign	Het
Nlrp9c	A	T	7: 26,083,862 (GRCm39)	D572E	probably benign	Het
Nop14	G	T	5: 34,807,757 (GRCm39)	Q402K	possibly damaging	Het
Npy5r	C	G	8: 67,134,052 (GRCm39)	C247S	probably damaging	Het
Nrap	T	A	19: 56,378,255 (GRCm39)	I19F	probably damaging	Het
Or4c102	A	G	2: 88,422,352 (GRCm39)	D68G	probably damaging	Het
Or51t4	T	A	7: 102,597,721 (GRCm39)	N16K	probably damaging	Het
Or6z3	T	G	7: 6,463,744 (GRCm39)	S79A	probably damaging	Het
Pcdh9	A	T	14: 94,124,405 (GRCm39)	Y588*	probably null	Het
Ppp1r12a	A	G	10: 108,096,728 (GRCm39)	E183G	probably damaging	Het
Ppp2r2b	T	A	18: 42,821,375 (GRCm39)	H261L	probably benign	Het
Ptch1	G	T	13: 63,687,656 (GRCm39)	T374K	possibly damaging	Het
Ptpn13	A	T	5: 103,713,103 (GRCm39)	N1742I	possibly damaging	Het
Rab33a	C	T	X: 47,608,521 (GRCm39)	S15L	probably benign	Het
Ralb	T	C	1: 119,405,744 (GRCm39)	Y75C	probably damaging	Het
Rassf7	T	A	7: 140,796,645 (GRCm39)	V2D	probably damaging	Het
Rbm10	A	G	X: 20,512,230 (GRCm39)	N397S	probably benign	Het
Rbm15	T	C	3: 107,238,197 (GRCm39)	T734A	probably benign	Het
Rbm8a	G	T	3: 96,539,046 (GRCm39)		probably benign	Het
Rock2	T	C	12: 17,022,986 (GRCm39)	I1095T	probably benign	Het
Rxfp3	T	A	15: 11,036,389 (GRCm39)	T328S	probably damaging	Het
Sec31a	T	A	5: 100,534,054 (GRCm39)	K505N	possibly damaging	Het
Selenof	A	G	3: 144,302,642 (GRCm39)	*122W	probably null	Het
Sh3pxd2b	T	C	11: 32,331,441 (GRCm39)	M55T	possibly damaging	Het
Slc15a2	T	C	16: 36,574,843 (GRCm39)	D522G	probably benign	Het
Slc2a1	T	C	4: 118,993,503 (GRCm39)	F447L	probably damaging	Het
Slc45a2	T	A	15: 11,022,214 (GRCm39)	C319S	probably null	Het
Smad4	T	C	18: 73,773,333 (GRCm39)	D551G	probably benign	Het
Smarcc2	A	G	10: 128,318,662 (GRCm39)	Y648C	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Stab2	A	T	10: 86,721,582 (GRCm39)		probably null	Het
Tanc1	A	G	2: 59,615,731 (GRCm39)	D246G	probably damaging	Het
Tekt3	T	G	11: 62,978,024 (GRCm39)		probably null	Het
Them5	G	A	3: 94,253,567 (GRCm39)		probably null	Het
Tlr4	T	A	4: 66,757,717 (GRCm39)	F170Y	probably damaging	Het
Tmem214	T	G	5: 31,028,907 (GRCm39)	Y165*	probably null	Het
Tom1l1	A	G	11: 90,547,177 (GRCm39)	L301S	possibly damaging	Het
Trpm3	A	G	19: 22,960,076 (GRCm39)	E1237G	probably damaging	Het
Ube2d1	C	A	10: 71,092,523 (GRCm39)	C107F	probably damaging	Het
Ugt3a1	C	T	15: 9,306,330 (GRCm39)	R160*	probably null	Het
Vcan	G	A	13: 89,853,782 (GRCm39)	P393S	probably damaging	Het
Virma	T	C	4: 11,544,954 (GRCm39)	F1638L	probably damaging	Het
Vmn1r31	G	A	6: 58,449,043 (GRCm39)	T274I	probably damaging	Het
Xylt2	C	T	11: 94,559,035 (GRCm39)	S445N	probably damaging	Het
Zfp457	A	G	13: 67,444,375 (GRCm39)	F43L	possibly damaging	Het
Zfp879	T	A	11: 50,723,473 (GRCm39)	M455L	probably benign	Het

Other mutations in Tmem94

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Tmem94	APN	11	115,686,154 (GRCm39)	missense	probably damaging	0.99
IGL01086:Tmem94	APN	11	115,681,110 (GRCm39)	missense	probably benign	0.25
IGL01314:Tmem94	APN	11	115,680,835 (GRCm39)	missense	probably damaging	0.99
IGL02123:Tmem94	APN	11	115,678,364 (GRCm39)	missense	possibly damaging	0.51
IGL02355:Tmem94	APN	11	115,685,571 (GRCm39)	missense	probably damaging	1.00
IGL02362:Tmem94	APN	11	115,685,571 (GRCm39)	missense	probably damaging	1.00
IGL02366:Tmem94	APN	11	115,688,258 (GRCm39)	missense	probably damaging	0.98
IGL02450:Tmem94	APN	11	115,683,897 (GRCm39)	missense	probably damaging	1.00
IGL02623:Tmem94	APN	11	115,687,227 (GRCm39)	nonsense	probably null
IGL02816:Tmem94	APN	11	115,679,530 (GRCm39)	splice site	probably null
IGL02836:Tmem94	APN	11	115,683,765 (GRCm39)	missense	probably damaging	1.00
IGL03061:Tmem94	APN	11	115,683,247 (GRCm39)	missense	possibly damaging	0.94
IGL03109:Tmem94	APN	11	115,683,224 (GRCm39)	missense	probably damaging	1.00
IGL03255:Tmem94	APN	11	115,682,894 (GRCm39)	unclassified	probably benign
IGL03397:Tmem94	APN	11	115,678,394 (GRCm39)	unclassified	probably benign
capitulate	UTSW	11	115,687,572 (GRCm39)	missense	probably damaging	1.00
R0083:Tmem94	UTSW	11	115,687,550 (GRCm39)	unclassified	probably benign
R0336:Tmem94	UTSW	11	115,678,211 (GRCm39)	missense	probably benign
R0370:Tmem94	UTSW	11	115,679,543 (GRCm39)	missense	probably damaging	1.00
R0494:Tmem94	UTSW	11	115,685,607 (GRCm39)	splice site	probably null
R0638:Tmem94	UTSW	11	115,682,886 (GRCm39)	splice site	probably null
R0647:Tmem94	UTSW	11	115,687,621 (GRCm39)	missense	probably damaging	1.00
R0900:Tmem94	UTSW	11	115,682,804 (GRCm39)	missense	probably benign	0.00
R1469:Tmem94	UTSW	11	115,685,917 (GRCm39)	unclassified	probably benign
R1621:Tmem94	UTSW	11	115,676,671 (GRCm39)	missense	probably benign
R1682:Tmem94	UTSW	11	115,681,056 (GRCm39)	missense	probably damaging	1.00
R1723:Tmem94	UTSW	11	115,685,574 (GRCm39)	missense	probably damaging	1.00
R1760:Tmem94	UTSW	11	115,687,580 (GRCm39)	missense	probably damaging	1.00
R1826:Tmem94	UTSW	11	115,684,039 (GRCm39)	nonsense	probably null
R1926:Tmem94	UTSW	11	115,683,726 (GRCm39)	missense	possibly damaging	0.67
R1956:Tmem94	UTSW	11	115,679,500 (GRCm39)	missense	possibly damaging	0.75
R2033:Tmem94	UTSW	11	115,685,154 (GRCm39)	missense	possibly damaging	0.65
R2135:Tmem94	UTSW	11	115,685,575 (GRCm39)	missense	probably benign
R2419:Tmem94	UTSW	11	115,687,641 (GRCm39)	missense	probably damaging	1.00
R2511:Tmem94	UTSW	11	115,682,787 (GRCm39)	missense	probably damaging	1.00
R3932:Tmem94	UTSW	11	115,680,080 (GRCm39)	missense	probably benign	0.00
R4708:Tmem94	UTSW	11	115,677,121 (GRCm39)	missense	possibly damaging	0.87
R4812:Tmem94	UTSW	11	115,686,938 (GRCm39)	nonsense	probably null
R5026:Tmem94	UTSW	11	115,683,930 (GRCm39)	missense	probably damaging	1.00
R5714:Tmem94	UTSW	11	115,684,016 (GRCm39)	missense	probably benign	0.04
R5716:Tmem94	UTSW	11	115,683,254 (GRCm39)	missense	probably benign	0.17
R6180:Tmem94	UTSW	11	115,681,857 (GRCm39)	critical splice acceptor site	probably null
R6295:Tmem94	UTSW	11	115,687,572 (GRCm39)	missense	probably damaging	1.00
R6594:Tmem94	UTSW	11	115,689,112 (GRCm39)	missense	probably damaging	1.00
R6696:Tmem94	UTSW	11	115,682,814 (GRCm39)	missense	probably damaging	1.00
R6883:Tmem94	UTSW	11	115,687,287 (GRCm39)	missense	probably damaging	1.00
R6939:Tmem94	UTSW	11	115,676,656 (GRCm39)	missense	possibly damaging	0.47
R7060:Tmem94	UTSW	11	115,683,764 (GRCm39)	missense	probably damaging	1.00
R7171:Tmem94	UTSW	11	115,681,781 (GRCm39)	splice site	probably null
R7181:Tmem94	UTSW	11	115,685,600 (GRCm39)	missense	probably damaging	0.97
R7290:Tmem94	UTSW	11	115,677,082 (GRCm39)	missense	possibly damaging	0.54
R7292:Tmem94	UTSW	11	115,677,082 (GRCm39)	missense	possibly damaging	0.54
R7345:Tmem94	UTSW	11	115,677,082 (GRCm39)	missense	possibly damaging	0.54
R7346:Tmem94	UTSW	11	115,677,082 (GRCm39)	missense	possibly damaging	0.54
R7378:Tmem94	UTSW	11	115,685,000 (GRCm39)	missense	probably damaging	1.00
R7380:Tmem94	UTSW	11	115,686,971 (GRCm39)	critical splice donor site	probably null
R7460:Tmem94	UTSW	11	115,677,082 (GRCm39)	missense	possibly damaging	0.54
R7461:Tmem94	UTSW	11	115,677,082 (GRCm39)	missense	possibly damaging	0.54
R7463:Tmem94	UTSW	11	115,677,082 (GRCm39)	missense	possibly damaging	0.54
R7464:Tmem94	UTSW	11	115,677,082 (GRCm39)	missense	possibly damaging	0.54
R7465:Tmem94	UTSW	11	115,677,082 (GRCm39)	missense	possibly damaging	0.54
R7673:Tmem94	UTSW	11	115,679,204 (GRCm39)	missense	probably benign	0.05
R7995:Tmem94	UTSW	11	115,688,797 (GRCm39)	missense	probably damaging	1.00
R8094:Tmem94	UTSW	11	115,679,218 (GRCm39)	critical splice donor site	probably null
R8447:Tmem94	UTSW	11	115,688,696 (GRCm39)	missense	probably benign
R8447:Tmem94	UTSW	11	115,688,023 (GRCm39)	missense	possibly damaging	0.93
R8825:Tmem94	UTSW	11	115,688,201 (GRCm39)	missense	probably benign	0.00
R8910:Tmem94	UTSW	11	115,688,252 (GRCm39)	missense	probably damaging	1.00
R9226:Tmem94	UTSW	11	115,683,191 (GRCm39)	missense	probably damaging	1.00
RF003:Tmem94	UTSW	11	115,686,958 (GRCm39)	missense	probably damaging	1.00
X0024:Tmem94	UTSW	11	115,677,079 (GRCm39)	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- AGCATCATCCGGCTCATTGAGCAG -3'
(R):5'- TTGACCCAGAGGACCAGGTACAAG -3'

Sequencing Primer
(F):5'- CTTAAGAGCATCATGGGCACG -3'
(R):5'- ACCAGGTACAAGAGAAAATGTTTAC -3'

Posted On

2014-04-24