Mutagenetix > Incidental Mutation

Incidental Mutation 'R6696:Tmem94'

528595

Institutional Source

Beutler Lab

Gene Symbol

Tmem94

Ensembl Gene

ENSMUSG00000020747

Gene Name

transmembrane protein 94

Synonyms

2310067B10Rik

MMRRC Submission

044814-MU

Accession Numbers

Essential gene?

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

Stock #

R6696 (G1)

Quality Score

182.009

Status

Validated

Chromosome

Chromosomal Location

115656245-115689859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 115682814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 617 (A617V)

Ref Sequence

ENSEMBL: ENSMUSP00000099322 (fasta)

Gene Model

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

AlphaFold

Q7TSH8

Predicted Effect

probably damaging
Transcript: ENSMUST00000093912
AA Change: A617V

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

SMART Domains

Protein: ENSMUSP00000091440
Gene: ENSMUSG00000020747
AA Change: A617V

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: A617V

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

SMART Domains

Protein: ENSMUSP00000099322
Gene: ENSMUSG00000020747
AA Change: A617V

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

0.1154

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap25	G	T	6: 87,442,633 (GRCm39)	H350Q	probably damaging	Het
Arhgap25	C	A	6: 87,443,545 (GRCm39)	V305F	probably damaging	Het
Atg3	A	T	16: 44,995,644 (GRCm39)	I126F	possibly damaging	Het
Best2	A	T	8: 85,737,873 (GRCm39)	L174*	probably null	Het
Ccdc134	T	A	15: 82,015,722 (GRCm39)	D67E	probably damaging	Het
Coasy	G	T	11: 100,973,927 (GRCm39)	R31L	possibly damaging	Het
Col5a3	C	T	9: 20,690,329 (GRCm39)	G1162R	probably damaging	Het
Dhrs7l	C	T	12: 72,666,255 (GRCm39)	A139T	possibly damaging	Het
Eipr1	C	A	12: 28,909,357 (GRCm39)	T208N	probably benign	Het
Epha2	A	G	4: 141,048,850 (GRCm39)	T606A	probably benign	Het
Fan1	A	T	7: 63,999,826 (GRCm39)	I853N	probably damaging	Het
Fbxw18	A	C	9: 109,517,832 (GRCm39)	S385A	probably benign	Het
Galnt11	T	C	5: 25,460,112 (GRCm39)	V307A	probably benign	Het
Gata3	A	T	2: 9,879,303 (GRCm39)	Y224*	probably null	Het
Gm527	T	C	12: 64,967,866 (GRCm39)	M96T	possibly damaging	Het
Hivep2	T	C	10: 14,009,503 (GRCm39)	F1720S	probably benign	Het
Hltf	T	G	3: 20,119,470 (GRCm39)		probably null	Het
Imp4	T	C	1: 34,483,327 (GRCm39)	V247A	probably benign	Het
Iqca1	G	A	1: 90,057,922 (GRCm39)	T259I	probably benign	Het
Klra6	A	G	6: 129,993,696 (GRCm39)	F192L	probably benign	Het
Lnp1	T	C	16: 56,748,149 (GRCm39)	K48E	possibly damaging	Het
Lrp4	A	G	2: 91,327,690 (GRCm39)	D1513G	probably benign	Het
Lrrc25	G	A	8: 71,071,015 (GRCm39)		probably null	Het
Macf1	T	A	4: 123,403,596 (GRCm39)	Y590F	probably damaging	Het
Mms19	C	A	19: 41,942,452 (GRCm39)	V359L	probably benign	Het
Mns1	G	A	9: 72,360,044 (GRCm39)	R398Q	probably damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Nme3	G	T	17: 25,116,268 (GRCm39)	C158F	possibly damaging	Het
Pam	T	A	1: 97,813,452 (GRCm39)	H326L	possibly damaging	Het
Plcxd1	A	G	5: 110,249,751 (GRCm39)	N151S	possibly damaging	Het
Prep	A	T	10: 45,029,174 (GRCm39)	N525Y	probably damaging	Het
Rab11fip5	T	C	6: 85,318,928 (GRCm39)	I654V	possibly damaging	Het
Sbf2	T	A	7: 110,159,505 (GRCm39)	Q35L	probably benign	Het
Shcbp1	A	G	8: 4,789,262 (GRCm39)	F519S	probably damaging	Het
Slc18a3	T	C	14: 32,186,270 (GRCm39)	I38V	possibly damaging	Het
Slc5a2	A	T	7: 127,869,215 (GRCm39)	I332F	probably damaging	Het
Slc7a7	C	T	14: 54,615,218 (GRCm39)		probably null	Het
Srbd1	C	T	17: 86,446,619 (GRCm39)	V47I	possibly damaging	Het
Synj1	C	G	16: 90,757,340 (GRCm39)	V877L	probably damaging	Het
Tgfbr3	C	T	5: 107,284,796 (GRCm39)	V618I	probably benign	Het
Tmem191	C	T	16: 17,100,886 (GRCm39)		probably null	Het
Tmem67	C	A	4: 12,061,754 (GRCm39)		probably null	Het
Vmn1r71	T	A	7: 10,482,401 (GRCm39)	I96F	probably damaging	Het
Vmn2r7	A	T	3: 64,614,495 (GRCm39)	F440I	probably benign	Het
Wdr7	A	G	18: 63,872,401 (GRCm39)	Q445R	probably benign	Het
Wnk1	A	G	6: 119,925,243 (GRCm39)	L1407P	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
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
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'- TACCACTTGGAGATGCTGAGC -3'
(R):5'- GCACCTTGCCAGACTAGAAAG -3'

Sequencing Primer
(F):5'- ACTTGGAGATGCTGAGCCTGTC -3'
(R):5'- AGTGGCCAGTGCTCATAAC -3'

Posted On

2018-07-24