Mutagenetix > Incidental Mutation

Incidental Mutation 'R0494:Tmem94'

42680

Institutional Source

Beutler Lab

Gene Symbol

Tmem94

Ensembl Gene

ENSMUSG00000020747

Gene Name

transmembrane protein 94

Synonyms

2310067B10Rik

MMRRC Submission

038691-MU

Accession Numbers

Essential gene?

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

Stock #

R0494 (G1)

Quality Score

140

Status

Validated

Chromosome

Chromosomal Location

115656245-115689859 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 115685607 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

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

97% (109/112)

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	T	C	11: 84,402,339 (GRCm39)	I116V	probably benign	Het
Abhd18	T	C	3: 40,871,123 (GRCm39)	F94S	probably damaging	Het
Adam28	T	A	14: 68,868,241 (GRCm39)		probably benign	Het
Afg2a	G	C	3: 37,486,312 (GRCm39)	D345H	possibly damaging	Het
Amn1	A	T	6: 149,086,634 (GRCm39)		probably benign	Het
Arhgap32	T	C	9: 32,170,199 (GRCm39)	V993A	probably damaging	Het
Arhgap33	A	T	7: 30,223,921 (GRCm39)	S703T	probably damaging	Het
Arhgef1	T	C	7: 24,618,785 (GRCm39)		probably benign	Het
Atg2a	A	G	19: 6,303,407 (GRCm39)	Y1083C	probably damaging	Het
Atp2a3	T	C	11: 72,872,731 (GRCm39)	F760L	probably damaging	Het
B9d1	A	G	11: 61,403,271 (GRCm39)		probably benign	Het
Batf	C	T	12: 85,733,636 (GRCm39)		probably benign	Het
BC051019	T	A	7: 109,317,182 (GRCm39)	Y170F	probably benign	Het
Bphl	T	C	13: 34,221,754 (GRCm39)	*37Q	probably null	Het
Cab39l	T	C	14: 59,737,008 (GRCm39)	S43P	probably damaging	Het
Cad	A	G	5: 31,234,856 (GRCm39)		probably benign	Het
Cct4	T	G	11: 22,946,014 (GRCm39)	S119A	probably benign	Het
Cd163	G	A	6: 124,288,408 (GRCm39)	V280M	probably damaging	Het
Cd86	A	G	16: 36,438,999 (GRCm39)		probably benign	Het
Cdh23	G	A	10: 60,152,375 (GRCm39)		probably benign	Het
Cdhr5	A	G	7: 140,852,431 (GRCm39)	F145S	probably damaging	Het
Cdt1	T	C	8: 123,298,799 (GRCm39)	S479P	possibly damaging	Het
Ces2g	T	C	8: 105,693,199 (GRCm39)	V372A	probably benign	Het
Chrna3	T	C	9: 54,929,562 (GRCm39)	D92G	probably damaging	Het
Cndp1	A	G	18: 84,637,658 (GRCm39)	S359P	probably benign	Het
Cops4	A	G	5: 100,676,528 (GRCm39)	Q93R	probably damaging	Het
Dgka	G	C	10: 128,556,952 (GRCm39)		probably benign	Het
Dmp1	A	T	5: 104,360,074 (GRCm39)	D250V	probably damaging	Het
Dnajb2	C	T	1: 75,216,278 (GRCm39)		probably benign	Het
Dock9	T	C	14: 121,899,996 (GRCm39)	T113A	possibly damaging	Het
Egln3	T	A	12: 54,250,107 (GRCm39)	I81F	probably benign	Het
Elapor2	G	A	5: 9,470,723 (GRCm39)		probably null	Het
Elovl5	T	C	9: 77,868,199 (GRCm39)	V37A	probably benign	Het
Esco1	A	T	18: 10,594,940 (GRCm39)	N115K	probably benign	Het
Fat1	A	T	8: 45,403,579 (GRCm39)	N110I	probably damaging	Het
Fezf1	T	A	6: 23,246,054 (GRCm39)	K370N	probably damaging	Het
Galnt18	T	A	7: 111,153,771 (GRCm39)	K284N	probably damaging	Het
Glt8d1	C	A	14: 30,733,580 (GRCm39)	T355K	possibly damaging	Het
Gm17455	G	A	10: 60,239,014 (GRCm39)	R93H	possibly damaging	Het
Gng8	T	A	7: 16,629,213 (GRCm39)	D46E	probably benign	Het
Gpx4	T	C	10: 79,892,011 (GRCm39)		probably benign	Het
Grk2	A	T	19: 4,341,347 (GRCm39)	N189K	probably damaging	Het
Grm5	T	C	7: 87,779,989 (GRCm39)	V1143A	probably benign	Het
Hibch	A	G	1: 52,942,055 (GRCm39)	E237G	possibly damaging	Het
Hipk2	C	T	6: 38,706,924 (GRCm39)	A682T	probably benign	Het
Hmcn1	G	T	1: 150,608,543 (GRCm39)		probably benign	Het
Htt	A	G	5: 34,979,188 (GRCm39)	D857G	possibly damaging	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Igsf8	A	G	1: 172,146,265 (GRCm39)	E421G	probably benign	Het
Kif26a	T	A	12: 112,145,905 (GRCm39)		probably null	Het
Klhl26	T	C	8: 70,904,251 (GRCm39)	Y519C	probably damaging	Het
Lamc1	A	C	1: 153,122,682 (GRCm39)		probably null	Het
Mical3	A	T	6: 120,936,162 (GRCm39)	S1455T	possibly damaging	Het
Mitf	G	A	6: 97,971,390 (GRCm39)	G186S	probably benign	Het
Ms4a15	G	A	19: 10,958,722 (GRCm39)		probably benign	Het
Myo5b	A	G	18: 74,787,038 (GRCm39)	E481G	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nbeal2	C	A	9: 110,456,255 (GRCm39)	V1686L	probably damaging	Het
Nedd4l	T	G	18: 65,306,092 (GRCm39)	S335A	possibly damaging	Het
Nos1	A	T	5: 118,043,539 (GRCm39)	N605Y	probably damaging	Het
Nyx	C	A	X: 13,353,508 (GRCm39)	T454K	probably benign	Het
Or52n2	A	G	7: 104,542,478 (GRCm39)	L119P	probably damaging	Het
Or8g55	T	A	9: 39,784,698 (GRCm39)	N42K	probably damaging	Het
Pcdhb12	T	A	18: 37,571,148 (GRCm39)	F765I	probably benign	Het
Pex3	C	T	10: 13,403,532 (GRCm39)	G330R	probably damaging	Het
Pfkfb1	T	C	X: 149,417,609 (GRCm39)	Y339H	probably damaging	Het
Pias1	G	A	9: 62,794,593 (GRCm39)	Q26*	probably null	Het
Pik3cg	C	A	12: 32,254,545 (GRCm39)	V481L	possibly damaging	Het
Plcg2	C	T	8: 118,282,843 (GRCm39)	T108M	probably damaging	Het
Pon2	G	A	6: 5,267,059 (GRCm39)		probably benign	Het
Ppef2	A	T	5: 92,400,952 (GRCm39)		probably benign	Het
Pramel21	G	T	4: 143,342,726 (GRCm39)	V278F	probably benign	Het
Ptpn22	A	G	3: 103,767,771 (GRCm39)	K18E	probably damaging	Het
Pum2	C	T	12: 8,771,736 (GRCm39)	Q360*	probably null	Het
Rab10	A	C	12: 3,302,723 (GRCm39)		probably null	Het
Ranbp2	T	G	10: 58,303,254 (GRCm39)	S809A	possibly damaging	Het
Rbms2	A	G	10: 127,969,539 (GRCm39)	V348A	probably benign	Het
Rnf213	A	G	11: 119,316,838 (GRCm39)	E988G	possibly damaging	Het
Rnf213	A	T	11: 119,333,946 (GRCm39)	M3052L	probably damaging	Het
Rpl14	C	A	9: 120,403,428 (GRCm39)		probably benign	Het
Rplp0	A	G	5: 115,697,931 (GRCm39)	Y13C	possibly damaging	Het
Ryr1	A	G	7: 28,703,218 (GRCm39)		probably benign	Het
Sac3d1	T	C	19: 6,168,324 (GRCm39)	E98G	probably damaging	Het
Scn10a	T	A	9: 119,453,166 (GRCm39)	D1242V	probably damaging	Het
Scnn1b	T	C	7: 121,498,681 (GRCm39)	Y74H	probably damaging	Het
Serpinb3a	C	T	1: 106,975,212 (GRCm39)	W198*	probably null	Het
Sf3b4	C	A	3: 96,081,017 (GRCm39)	D108E	probably damaging	Het
Shprh	T	C	10: 11,032,935 (GRCm39)	V307A	probably damaging	Het
Slc2a2	A	G	3: 28,781,426 (GRCm39)	D458G	probably benign	Het
Strc	T	C	2: 121,210,014 (GRCm39)	D103G	probably damaging	Het
Synrg	T	C	11: 83,910,369 (GRCm39)	I923T	probably benign	Het
Tango6	G	T	8: 107,462,314 (GRCm39)		probably benign	Het
Tas2r106	A	G	6: 131,655,539 (GRCm39)	L104P	probably damaging	Het
Tat	C	T	8: 110,718,316 (GRCm39)	P67L	probably damaging	Het
Tln2	A	C	9: 67,262,479 (GRCm39)	S593A	probably benign	Het
Tppp3	G	A	8: 106,194,804 (GRCm39)	A109V	probably benign	Het
Trank1	T	C	9: 111,220,361 (GRCm39)	F2366S	probably benign	Het
Trpc5	T	A	X: 143,264,392 (GRCm39)	Y155F	probably damaging	Het
Trpv1	A	G	11: 73,151,268 (GRCm39)	T451A	probably benign	Het
Ttc9	C	A	12: 81,678,423 (GRCm39)	A82E	probably damaging	Het
Ttll11	T	A	2: 35,834,886 (GRCm39)	N180I	probably damaging	Het
Ttn	T	C	2: 76,566,743 (GRCm39)	N28050S	possibly damaging	Het
Vmn2r73	G	T	7: 85,522,140 (GRCm39)	H66Q	probably benign	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Wnt3	G	A	11: 103,703,141 (GRCm39)	C208Y	probably damaging	Het
Zfp521	C	A	18: 13,978,325 (GRCm39)	C696F	probably damaging	Het
Zfp521	T	C	18: 13,979,927 (GRCm39)	D162G	probably damaging	Het
Zfp869	A	T	8: 70,159,054 (GRCm39)	H506Q	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
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
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'- TCCAGAAAGTTGGCCCAAGGTGAG -3'
(R):5'- CAGCAACGGTACATTGTCGATGTTC -3'

Sequencing Primer
(F):5'- CAAGGTGAGAATCGGCTTCC -3'
(R):5'- CAGCTTGGCCTGGAAGAAG -3'

Posted On

2013-05-23