Mutagenetix > Incidental Mutation

Incidental Mutation 'R0370:Tmem94'

30438

Institutional Source

Beutler Lab

Gene Symbol

Tmem94

Ensembl Gene

ENSMUSG00000020747

Gene Name

transmembrane protein 94

Synonyms

2310067B10Rik

MMRRC Submission

038576-MU

Accession Numbers

Essential gene?

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

Stock #

R0370 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115656245-115689859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 115679543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 273 (R273S)

Ref Sequence

ENSEMBL: ENSMUSP00000091440 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093912] [ENSMUST00000103033] [ENSMUST00000103034] [ENSMUST00000125918] [ENSMUST00000136720] [ENSMUST00000141871]

AlphaFold

Q7TSH8

Predicted Effect

probably damaging
Transcript: ENSMUST00000093912
AA Change: R273S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000091440
Gene: ENSMUSG00000020747
AA Change: R273S

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: R273S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099322
Gene: ENSMUSG00000020747
AA Change: R273S

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: ENSMUST00000103034

SMART Domains

Protein: ENSMUSP00000099323
Gene: ENSMUSG00000020747

Domain	Start	End	E-Value	Type
transmembrane domain	52	69	N/A	INTRINSIC

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

probably benign
Transcript: ENSMUST00000136720

SMART Domains

Protein: ENSMUSP00000122111
Gene: ENSMUSG00000020747

Domain	Start	End	E-Value	Type
low complexity region	72	84	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141871

SMART Domains

Protein: ENSMUSP00000118396
Gene: ENSMUSG00000020747

Domain	Start	End	E-Value	Type
low complexity region	72	84	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l1	T	C	8: 124,228,293 (GRCm39)	S666P	probably damaging	Het
B3gntl1	A	T	11: 121,514,980 (GRCm39)	W263R	probably damaging	Het
Carmil3	A	G	14: 55,732,899 (GRCm39)	N270S	possibly damaging	Het
Ctdp1	T	C	18: 80,492,569 (GRCm39)	E642G	probably damaging	Het
Cyp2b9	A	T	7: 25,909,531 (GRCm39)	K433M	probably damaging	Het
Dcc	A	G	18: 71,721,056 (GRCm39)	V435A	possibly damaging	Het
Defa26	A	T	8: 22,108,875 (GRCm39)	M87L	probably benign	Het
Dnah11	T	A	12: 117,958,962 (GRCm39)	I2974L	probably benign	Het
Dnah3	T	C	7: 119,685,943 (GRCm39)	D131G	possibly damaging	Het
Dock6	A	T	9: 21,725,861 (GRCm39)	S1447R	probably benign	Het
Dtl	G	T	1: 191,307,462 (GRCm39)	N17K	probably benign	Het
Grid2	A	G	6: 64,322,718 (GRCm39)	I573V	possibly damaging	Het
Hoxa9	T	C	6: 52,202,684 (GRCm39)	E134G	possibly damaging	Het
Kcnn3	A	T	3: 89,574,399 (GRCm39)	N637I	probably damaging	Het
Ktn1	T	C	14: 47,901,532 (GRCm39)	F97L	probably benign	Het
Lmbrd2	T	C	15: 9,165,939 (GRCm39)	I271T	probably damaging	Het
Lrp6	A	C	6: 134,456,729 (GRCm39)	I845S	probably damaging	Het
Med13l	T	A	5: 118,879,891 (GRCm39)	N994K	probably benign	Het
Mrrf	A	T	2: 36,067,125 (GRCm39)		probably null	Het
Mtmr1	G	A	X: 70,431,837 (GRCm39)	V125I	probably damaging	Het
Nol8	C	T	13: 49,815,923 (GRCm39)	A677V	possibly damaging	Het
Or13g1	T	A	7: 85,956,057 (GRCm39)	N88I	probably benign	Het
Or51k1	T	G	7: 103,661,266 (GRCm39)	L214F	probably damaging	Het
Or8k3	A	T	2: 86,059,057 (GRCm39)	V86D	probably damaging	Het
Paxip1	C	A	5: 27,965,084 (GRCm39)	V659F	probably damaging	Het
Pclo	T	C	5: 14,571,104 (GRCm39)	V163A	probably damaging	Het
Pkn3	T	A	2: 29,977,184 (GRCm39)	H641Q	probably damaging	Het
Plekhg6	G	A	6: 125,347,623 (GRCm39)	R444C	probably damaging	Het
Rfx2	T	C	17: 57,106,308 (GRCm39)	E175G	probably benign	Het
Samd9l	A	C	6: 3,377,264 (GRCm39)		probably benign	Het
Sec14l5	A	T	16: 4,998,570 (GRCm39)	T537S	probably damaging	Het
Serpinb9d	A	G	13: 33,379,949 (GRCm39)	E96G	probably damaging	Het
Setd4	T	C	16: 93,388,006 (GRCm39)	E160G	probably damaging	Het
Sf3b2	C	T	19: 5,324,852 (GRCm39)	D845N	probably damaging	Het
Slc16a4	A	G	3: 107,208,413 (GRCm39)	I308V	possibly damaging	Het
Slco2b1	T	A	7: 99,339,644 (GRCm39)	N100Y	probably damaging	Het
Sptbn1	A	T	11: 30,071,545 (GRCm39)	S1475R	probably benign	Het
Tecta	T	C	9: 42,278,100 (GRCm39)	D1136G	probably benign	Het
Tns3	A	G	11: 8,395,730 (GRCm39)	S1225P	possibly damaging	Het
Ugt2b36	A	G	5: 87,239,834 (GRCm39)	Y184H	probably benign	Het
Vmn2r59	A	T	7: 41,662,150 (GRCm39)	M555K	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
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
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'- GACATTCCTGGCCCTGCTGATAAC -3'
(R):5'- GTTGCCATTCACACTGCTGCTG -3'

Sequencing Primer
(F):5'- ACCTCCTTGATTGAAGGGATG -3'
(R):5'- TGGCTCGCACACTGCTAC -3'

Posted On

2013-04-24