Mutagenetix > Incidental Mutation

Incidental Mutation 'R1760:Tmem94'

192716

Institutional Source

Beutler Lab

Gene Symbol

Tmem94

Ensembl Gene

ENSMUSG00000020747

Gene Name

transmembrane protein 94

Synonyms

2310067B10Rik

MMRRC Submission

039792-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.276) question?

Stock #

R1760 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115656245-115689859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115687580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 1146 (K1146N)

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 damaging
Transcript: ENSMUST00000093912
AA Change: K1146N

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091440
Gene: ENSMUSG00000020747
AA Change: K1146N

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: K1146N

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

SMART Domains

Protein: ENSMUSP00000099322
Gene: ENSMUSG00000020747
AA Change: K1146N

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

0.6467

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

Validation Efficiency

97% (95/98)

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	C	2: 25,333,055 (GRCm39)	S1585P	probably benign	Het
Abhd16b	T	C	2: 181,135,197 (GRCm39)	F33S	probably damaging	Het
Adgra2	G	A	8: 27,609,795 (GRCm39)	R856Q	probably damaging	Het
Aff3	A	T	1: 38,368,945 (GRCm39)		probably benign	Het
Anxa2	A	T	9: 69,397,049 (GRCm39)	Y251F	probably benign	Het
Arid1b	A	G	17: 5,392,088 (GRCm39)	T1873A	probably damaging	Het
Baz1b	C	A	5: 135,271,378 (GRCm39)	D1320E	probably benign	Het
Bbs1	A	T	19: 4,944,350 (GRCm39)	S426R	probably benign	Het
Bid	A	G	6: 120,877,209 (GRCm39)	V44A	possibly damaging	Het
Ccdc60	T	A	5: 116,310,532 (GRCm39)	M177L	probably damaging	Het
Cdh23	G	A	10: 60,161,855 (GRCm39)	T1997M	probably damaging	Het
Cdh5	T	A	8: 104,854,801 (GRCm39)	M243K	probably benign	Het
Clpb	T	A	7: 101,435,905 (GRCm39)	V578E	possibly damaging	Het
Cngb1	C	A	8: 96,026,328 (GRCm39)	C151F	probably benign	Het
Cntnap5b	T	C	1: 99,700,535 (GRCm39)	S16P	probably benign	Het
Cr1l	T	A	1: 194,797,123 (GRCm39)	M305L	probably benign	Het
Ctnnal1	A	T	4: 56,838,988 (GRCm39)	M235K	probably damaging	Het
Ddx55	A	T	5: 124,706,176 (GRCm39)	R534W	probably damaging	Het
Dip2b	T	A	15: 100,109,910 (GRCm39)	L1465Q	probably damaging	Het
Dnah9	G	T	11: 65,872,048 (GRCm39)	D2727E	probably benign	Het
Dph3b-ps	A	C	13: 106,683,497 (GRCm39)		noncoding transcript	Het
Dst	T	A	1: 34,267,684 (GRCm39)	L2702Q	probably damaging	Het
Efnb2	T	C	8: 8,673,184 (GRCm39)	T158A	possibly damaging	Het
Exosc10	A	T	4: 148,662,926 (GRCm39)	K712*	probably null	Het
Fgr	T	C	4: 132,725,653 (GRCm39)	V354A	possibly damaging	Het
Fsip2	A	G	2: 82,830,185 (GRCm39)	D6893G	possibly damaging	Het
Fsip2	G	A	2: 82,815,240 (GRCm39)	V3658M	probably benign	Het
Fsip2	A	T	2: 82,818,055 (GRCm39)	H4596L	possibly damaging	Het
Gm1527	G	A	3: 28,949,699 (GRCm39)		probably benign	Het
Gm5150	G	T	3: 16,060,468 (GRCm39)	Q7K	probably benign	Het
Gpr155	C	T	2: 73,212,279 (GRCm39)	V115M	probably damaging	Het
Gpr75	T	C	11: 30,841,527 (GRCm39)	L144P	probably damaging	Het
Gsn	T	A	2: 35,174,835 (GRCm39)	Y127N	probably damaging	Het
Hk1	A	G	10: 62,117,678 (GRCm39)	L615S	probably damaging	Het
Igsf9b	A	G	9: 27,229,123 (GRCm39)	T194A	possibly damaging	Het
Il17rd	C	T	14: 26,813,763 (GRCm39)	Q46*	probably null	Het
Jak1	T	A	4: 101,020,126 (GRCm39)	M678L	probably benign	Het
Kif6	T	C	17: 49,922,311 (GRCm39)	V16A	probably benign	Het
Kpna3	T	C	14: 61,607,990 (GRCm39)	E405G	probably benign	Het
Lmtk2	C	A	5: 144,110,993 (GRCm39)	T571K	probably damaging	Het
Mucl2	T	C	15: 103,927,838 (GRCm39)	T40A	possibly damaging	Het
Myh11	G	A	16: 14,051,559 (GRCm39)		probably benign	Het
Myh7	C	T	14: 55,210,170 (GRCm39)	R1845Q	probably damaging	Het
Myo1f	T	A	17: 33,805,172 (GRCm39)	L480Q	probably benign	Het
Nek9	T	G	12: 85,352,364 (GRCm39)	D833A	possibly damaging	Het
Nek9	T	C	12: 85,357,184 (GRCm39)	E660G	probably benign	Het
Or10z1	C	T	1: 174,077,926 (GRCm39)	C189Y	probably damaging	Het
Or2a12	A	G	6: 42,904,431 (GRCm39)	I89V	possibly damaging	Het
Or2t45	A	G	11: 58,669,195 (GRCm39)	M81V	possibly damaging	Het
Or5h18	T	C	16: 58,847,350 (GRCm39)	R307G	probably benign	Het
Or6c65	T	A	10: 129,603,417 (GRCm39)	D17E	probably benign	Het
Or6f2	G	A	7: 139,756,188 (GRCm39)	V52M	probably damaging	Het
Or7s1a-ps1	T	A	9: 18,843,791 (GRCm39)		probably benign	Het
Otud3	G	T	4: 138,623,092 (GRCm39)	T383K	possibly damaging	Het
Pkp4	T	C	2: 59,142,185 (GRCm39)	L496P	probably damaging	Het
Pla2g4e	C	A	2: 120,000,527 (GRCm39)	A737S	possibly damaging	Het
Pla2g4f	T	C	2: 120,144,547 (GRCm39)		probably benign	Het
Plxnd1	A	T	6: 115,944,740 (GRCm39)	V1018E	possibly damaging	Het
Ppp1r21	T	G	17: 88,869,653 (GRCm39)	V402G	possibly damaging	Het
Prkcq	T	G	2: 11,304,881 (GRCm39)	M690R	probably damaging	Het
Ptpra	T	C	2: 130,391,747 (GRCm39)	I719T	probably damaging	Het
Rab3ip	C	T	10: 116,773,415 (GRCm39)	D133N	probably damaging	Het
Relch	T	G	1: 105,647,169 (GRCm39)		probably benign	Het
Rsbn1	T	A	3: 103,867,347 (GRCm39)	Y563N	probably damaging	Het
Rtf1	A	C	2: 119,558,889 (GRCm39)	D530A	probably benign	Het
Rybp	G	T	6: 100,209,224 (GRCm39)	S199R	probably benign	Het
Sema5a	T	G	15: 32,641,252 (GRCm39)	C689G	probably damaging	Het
Senp6	T	A	9: 80,025,911 (GRCm39)	V314E	probably benign	Het
Setd1a	T	A	7: 127,385,062 (GRCm39)	C47S	possibly damaging	Het
Slamf1	C	A	1: 171,604,734 (GRCm39)	T168K	probably benign	Het
Slc12a5	T	C	2: 164,838,048 (GRCm39)	S937P	probably damaging	Het
Slc38a11	C	T	2: 65,185,663 (GRCm39)		probably null	Het
Slc6a2	C	T	8: 93,687,846 (GRCm39)		probably benign	Het
Snw1	A	T	12: 87,511,459 (GRCm39)	F64Y	probably benign	Het
Spata9	A	C	13: 76,146,643 (GRCm39)	I172L	probably benign	Het
Sphkap	T	C	1: 83,255,265 (GRCm39)	H828R	probably benign	Het
Spmip6	T	A	4: 41,507,330 (GRCm39)		probably null	Het
Trdn	A	G	10: 33,109,883 (GRCm39)	T294A	possibly damaging	Het
Tsc22d1	T	C	14: 76,654,388 (GRCm39)	V289A	possibly damaging	Het
Tti1	C	A	2: 157,834,955 (GRCm39)	V1002L	possibly damaging	Het
Tubgcp4	T	A	2: 121,019,952 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,643,180 (GRCm39)	E4181K	possibly damaging	Het
Uvrag	A	G	7: 98,537,555 (GRCm39)	S547P	probably benign	Het
Vav3	T	C	3: 109,248,443 (GRCm39)	V30A	possibly damaging	Het
Vegfa	A	G	17: 46,336,395 (GRCm39)	Y242H	probably damaging	Het
Vmn2r75	G	T	7: 85,798,019 (GRCm39)	T598K	probably damaging	Het
Vps13b	C	T	15: 35,884,765 (GRCm39)	S3146L	possibly damaging	Het
Vrk3	A	G	7: 44,417,895 (GRCm39)	Y310C	probably damaging	Het
Zfhx4	A	G	3: 5,447,676 (GRCm39)	K1100R	probably benign	Het
Zfp748	T	A	13: 67,693,540 (GRCm39)		probably null	Het
Zfp760	A	T	17: 21,941,311 (GRCm39)	D162V	probably damaging	Het
Znfx1	T	A	2: 166,881,786 (GRCm39)	M1068L	probably damaging	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
R1616:Tmem94	UTSW	11	115,686,971 (GRCm39)	critical splice donor site	probably null
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
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'- ATAGTCACGAGCCTCTGTGTACCC -3'
(R):5'- GTTTAGCAAGCCCTCAGCAGGTAAG -3'

Sequencing Primer
(F):5'- AAGATGTTGAGTCTCCTGAGCC -3'
(R):5'- TCAGCAGGTAAGTGCCCAC -3'

Posted On

2014-05-23