Mutagenetix > Incidental Mutation

Incidental Mutation 'R0900:Tmem94'

83846

Institutional Source

Beutler Lab

Gene Symbol

Tmem94

Ensembl Gene

ENSMUSG00000020747

Gene Name

transmembrane protein 94

Synonyms

2310067B10Rik

Accession Numbers

Essential gene?

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

Stock #

R0900 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115656245-115689859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115682804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 614 (C614S)

Ref Sequence

ENSEMBL: ENSMUSP00000099322 (fasta)

Gene Model

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

AlphaFold

Q7TSH8

Predicted Effect

probably benign
Transcript: ENSMUST00000093912
AA Change: C614S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000091440
Gene: ENSMUSG00000020747
AA Change: C614S

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: C614S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000099322
Gene: ENSMUSG00000020747
AA Change: C614S

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

silent
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: 99.5%
3x: 99.1%
10x: 98.0%
20x: 96.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	T	12: 118,904,359 (GRCm39)	F144I	probably damaging	Het
Als2cl	A	G	9: 110,719,496 (GRCm39)	R468G	possibly damaging	Het
Arsk	C	A	13: 76,246,576 (GRCm39)		probably benign	Het
Cacna1d	T	C	14: 29,833,039 (GRCm39)	H912R	probably damaging	Het
Ccr1	A	T	9: 123,764,371 (GRCm39)	V53D	possibly damaging	Het
Cfap91	G	A	16: 38,156,764 (GRCm39)	S47L	possibly damaging	Het
Clec2d	G	A	6: 129,160,076 (GRCm39)	R30K	probably benign	Het
Col12a1	A	G	9: 79,591,535 (GRCm39)	V975A	possibly damaging	Het
Col4a1	AGCCAGGGATGCCAGG	AGCCAGG	8: 11,268,014 (GRCm39)		probably benign	Het
Cul7	T	C	17: 46,969,263 (GRCm39)	S907P	probably benign	Het
Depdc1b	A	T	13: 108,498,794 (GRCm39)	H159L	possibly damaging	Het
Dhx57	T	C	17: 80,583,011 (GRCm39)	H198R	probably benign	Het
Dpp7	T	C	2: 25,246,311 (GRCm39)	D10G	probably damaging	Het
Esp18	G	A	17: 39,719,023 (GRCm39)	M7I	possibly damaging	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Fam167a	A	G	14: 63,689,828 (GRCm39)	T42A	probably damaging	Het
Gm973	A	G	1: 59,605,827 (GRCm39)	R553G	probably benign	Het
Ift140	T	A	17: 25,254,786 (GRCm39)	I422N	probably benign	Het
Jag1	CTTT	CTTTT	2: 136,932,802 (GRCm39)		probably null	Het
Limk2	A	G	11: 3,300,731 (GRCm39)	F204L	probably damaging	Het
Lmo7	A	G	14: 102,124,624 (GRCm39)	D361G	probably damaging	Het
Muc2	CGTG	CGTGTG	7: 141,699,185 (GRCm38)		probably null	Het
Nup98	T	A	7: 101,809,923 (GRCm39)	T536S	probably damaging	Het
Or52e2	T	A	7: 102,804,520 (GRCm39)	M145L	probably benign	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pcdh18	A	T	3: 49,711,252 (GRCm39)	F21Y	probably benign	Het
Pcna-ps2	T	A	19: 9,261,487 (GRCm39)	Y249N	probably damaging	Het
Prkce	A	T	17: 86,932,886 (GRCm39)	D622V	probably damaging	Het
Prss47	A	C	13: 65,197,208 (GRCm39)	V176G	possibly damaging	Het
Prss55	C	T	14: 64,314,627 (GRCm39)	R181H	probably benign	Het
Prtg	A	T	9: 72,752,225 (GRCm39)	I204L	probably benign	Het
Pura	T	C	18: 36,420,720 (GRCm39)	I169T	probably damaging	Het
Rttn	C	T	18: 89,119,815 (GRCm39)	T1750I	probably benign	Het
Slc25a26	T	A	6: 94,484,639 (GRCm39)	S60T	probably damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Trim12a	T	C	7: 103,953,469 (GRCm39)	N214S	probably benign	Het
Ube3c	T	C	5: 29,806,344 (GRCm39)	Y329H	probably benign	Het
Ubxn2a	T	C	12: 4,952,257 (GRCm39)	K2E	probably damaging	Het
Unc80	A	T	1: 66,710,757 (GRCm39)	E2675D	probably benign	Het
Usf3	C	T	16: 44,036,321 (GRCm39)	P267L	probably benign	Het
Vmn1r129	A	T	7: 21,094,635 (GRCm39)	Y194*	probably null	Het
Zfp750	T	C	11: 121,403,807 (GRCm39)	E356G	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
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'- TACCACTTGGAGATGCTGAGCCTG -3'
(R):5'- GCCCCTGGAGTGAAACCTATGAAC -3'

Sequencing Primer
(F):5'- ATGCTGAGCCTGTCCCAG -3'
(R):5'- ACAGAATCTAGCTCGCTTGG -3'

Posted On

2013-11-08