Mutagenetix > Incidental Mutation

Incidental Mutation 'R0647:Tmem94'

57282

Institutional Source

Beutler Lab

Gene Symbol

Tmem94

Ensembl Gene

ENSMUSG00000020747

Gene Name

transmembrane protein 94

Synonyms

2310067B10Rik

MMRRC Submission

038832-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.255) question?

Stock #

R0647 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115765433-115799366 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115796795 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1160 (N1160S)

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: N1160S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091440
Gene: ENSMUSG00000020747
AA Change: N1160S

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: N1160S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099322
Gene: ENSMUSG00000020747
AA Change: N1160S

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	T	A	14: 8,536,655	D184V	possibly damaging	Het
Adamts2	C	A	11: 50,603,438	T113K	probably damaging	Het
Adgre1	T	A	17: 57,411,003	N338K	probably damaging	Het
Aggf1	A	T	13: 95,371,656		probably null	Het
Apc2	A	T	10: 80,304,928	I206F	probably damaging	Het
Carmil3	T	C	14: 55,502,435		probably null	Het
Ccdc110	A	C	8: 45,943,388	E772A	probably damaging	Het
Cdh23	A	G	10: 60,307,902	F2977L	probably damaging	Het
Cdh23	A	T	10: 60,323,374	Y2207*	probably null	Het
Chd4	T	A	6: 125,109,123	N908K	probably damaging	Het
Chst9	A	G	18: 15,452,669	I279T	probably damaging	Het
Ctnna3	A	T	10: 63,820,424	N261I	probably benign	Het
Dlgap2	A	T	8: 14,727,591	S279C	possibly damaging	Het
Dock4	G	A	12: 40,710,884	E524K	probably damaging	Het
Fabp12	T	A	3: 10,246,036	N122I	possibly damaging	Het
Fam184b	T	C	5: 45,584,590	T100A	probably benign	Het
Fbxl5	T	C	5: 43,768,069	D176G	probably damaging	Het
Fcho1	C	T	8: 71,712,560	A418T	probably benign	Het
Foxe1	A	G	4: 46,344,477	N95S	possibly damaging	Het
Frem3	A	G	8: 80,615,185	E1369G	probably damaging	Het
Frmpd4	C	T	X: 167,489,010	E483K	probably damaging	Het
Gbp11	T	C	5: 105,330,964	K203E	possibly damaging	Het
Gm10334	A	T	6: 41,443,341	F150L	probably benign	Het
Hs3st6	C	T	17: 24,758,160	R205C	probably damaging	Het
Ifitm10	C	T	7: 142,356,035	S179N	probably damaging	Het
Irx2	A	C	13: 72,630,680	N121T	probably damaging	Het
Itih1	A	T	14: 30,935,863	V417E	probably damaging	Het
Itpr1	A	C	6: 108,383,698	E695A	probably damaging	Het
Kif1c	T	A	11: 70,726,141	I755K	probably damaging	Het
Lamb3	A	G	1: 193,330,796	E443G	probably damaging	Het
Lrp1	G	C	10: 127,571,477	T1865R	probably damaging	Het
Lrrc8b	T	A	5: 105,480,607	I273K	possibly damaging	Het
Ly9	T	C	1: 171,599,808	Y393C	probably damaging	Het
Mphosph8	T	C	14: 56,674,405	V295A	probably benign	Het
Nlrp5	T	A	7: 23,417,707	D269E	probably damaging	Het
Olfr1294	A	G	2: 111,537,359	V310A	probably benign	Het
Olfr398	G	A	11: 73,983,771	A279V	probably damaging	Het
Olfr469	T	A	7: 107,823,011	I153F	probably benign	Het
Olfr654	T	G	7: 104,588,115	F104V	probably damaging	Het
Olfr720	T	G	14: 14,175,858	T75P	probably benign	Het
Otud3	A	G	4: 138,913,637	L64P	probably damaging	Het
Pcdh17	A	T	14: 84,447,773	H560L	possibly damaging	Het
Pcdhb21	T	C	18: 37,513,860	V14A	probably damaging	Het
Rbfox1	A	T	16: 7,224,384	Q14L	probably damaging	Het
Rbm44	A	G	1: 91,156,928	D665G	probably benign	Het
Rc3h2	C	T	2: 37,409,530	V163M	probably damaging	Het
Sash1	T	A	10: 8,729,552	R1025W	probably damaging	Het
Sgpl1	A	G	10: 61,113,488	S146P	probably damaging	Het
Slc27a2	G	A	2: 126,587,916	D615N	probably benign	Het
Smap1	A	G	1: 23,853,478	I135T	probably damaging	Het
Snapc3	A	G	4: 83,450,229	D321G	probably damaging	Het
St6galnac4	C	T	2: 32,589,448	R6C	probably damaging	Het
Syne2	C	T	12: 75,888,203	P153L	probably benign	Het
Tiprl	A	G	1: 165,222,523		probably null	Het
Trim65	G	A	11: 116,128,210	R168C	possibly damaging	Het
Txndc16	A	T	14: 45,169,275	I241N	probably damaging	Het
Txndc16	T	A	14: 45,165,361	R101*	probably null	Het
Ugt2b38	A	G	5: 87,423,469	S235P	probably benign	Het
Ugt3a1	A	T	15: 9,310,549	M306L	probably benign	Het
Vmn1r23	T	A	6: 57,926,184	Y203F	probably benign	Het
Vmn2r3	T	A	3: 64,275,625	I218F	probably damaging	Het
Wdfy4	A	G	14: 33,109,699	C857R	possibly damaging	Het
Zfp493	A	C	13: 67,783,875	K31T	possibly damaging	Het

Other mutations in Tmem94

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Tmem94	APN	11	115795328	missense	probably damaging	0.99
IGL01086:Tmem94	APN	11	115790284	missense	probably benign	0.25
IGL01314:Tmem94	APN	11	115790009	missense	probably damaging	0.99
IGL02123:Tmem94	APN	11	115787538	missense	possibly damaging	0.51
IGL02355:Tmem94	APN	11	115794745	missense	probably damaging	1.00
IGL02362:Tmem94	APN	11	115794745	missense	probably damaging	1.00
IGL02366:Tmem94	APN	11	115797432	missense	probably damaging	0.98
IGL02450:Tmem94	APN	11	115793071	missense	probably damaging	1.00
IGL02623:Tmem94	APN	11	115796401	nonsense	probably null
IGL02816:Tmem94	APN	11	115788704	splice site	probably null
IGL02836:Tmem94	APN	11	115792939	missense	probably damaging	1.00
IGL03061:Tmem94	APN	11	115792421	missense	possibly damaging	0.94
IGL03109:Tmem94	APN	11	115792398	missense	probably damaging	1.00
IGL03255:Tmem94	APN	11	115792068	unclassified	probably benign
IGL03397:Tmem94	APN	11	115787568	unclassified	probably benign
capitulate	UTSW	11	115796746	missense	probably damaging	1.00
R0083:Tmem94	UTSW	11	115796724	unclassified	probably benign
R0336:Tmem94	UTSW	11	115787385	missense	probably benign
R0370:Tmem94	UTSW	11	115788717	missense	probably damaging	1.00
R0494:Tmem94	UTSW	11	115794781	splice site	probably null
R0638:Tmem94	UTSW	11	115792060	splice site	probably null
R0900:Tmem94	UTSW	11	115791978	missense	probably benign	0.00
R1469:Tmem94	UTSW	11	115795091	unclassified	probably benign
R1616:Tmem94	UTSW	11	115796145	critical splice donor site	probably null
R1621:Tmem94	UTSW	11	115785845	missense	probably benign
R1682:Tmem94	UTSW	11	115790230	missense	probably damaging	1.00
R1723:Tmem94	UTSW	11	115794748	missense	probably damaging	1.00
R1760:Tmem94	UTSW	11	115796754	missense	probably damaging	1.00
R1826:Tmem94	UTSW	11	115793213	nonsense	probably null
R1926:Tmem94	UTSW	11	115792900	missense	possibly damaging	0.67
R1956:Tmem94	UTSW	11	115788674	missense	possibly damaging	0.75
R2033:Tmem94	UTSW	11	115794328	missense	possibly damaging	0.65
R2135:Tmem94	UTSW	11	115794749	missense	probably benign
R2419:Tmem94	UTSW	11	115796815	missense	probably damaging	1.00
R2511:Tmem94	UTSW	11	115791961	missense	probably damaging	1.00
R3932:Tmem94	UTSW	11	115789254	missense	probably benign	0.00
R4708:Tmem94	UTSW	11	115786295	missense	possibly damaging	0.87
R4812:Tmem94	UTSW	11	115796112	nonsense	probably null
R5026:Tmem94	UTSW	11	115793104	missense	probably damaging	1.00
R5714:Tmem94	UTSW	11	115793190	missense	probably benign	0.04
R5716:Tmem94	UTSW	11	115792428	missense	probably benign	0.17
R6180:Tmem94	UTSW	11	115791031	critical splice acceptor site	probably null
R6295:Tmem94	UTSW	11	115796746	missense	probably damaging	1.00
R6594:Tmem94	UTSW	11	115798286	missense	probably damaging	1.00
R6696:Tmem94	UTSW	11	115791988	missense	probably damaging	1.00
R6883:Tmem94	UTSW	11	115796461	missense	probably damaging	1.00
R6939:Tmem94	UTSW	11	115785830	missense	possibly damaging	0.47
R7060:Tmem94	UTSW	11	115792938	missense	probably damaging	1.00
R7171:Tmem94	UTSW	11	115790955	splice site	probably null
R7181:Tmem94	UTSW	11	115794774	missense	probably damaging	0.97
R7290:Tmem94	UTSW	11	115786256	missense	possibly damaging	0.54
R7292:Tmem94	UTSW	11	115786256	missense	possibly damaging	0.54
R7345:Tmem94	UTSW	11	115786256	missense	possibly damaging	0.54
R7346:Tmem94	UTSW	11	115786256	missense	possibly damaging	0.54
R7378:Tmem94	UTSW	11	115794174	missense	probably damaging	1.00
R7380:Tmem94	UTSW	11	115796145	critical splice donor site	probably null
R7460:Tmem94	UTSW	11	115786256	missense	possibly damaging	0.54
R7461:Tmem94	UTSW	11	115786256	missense	possibly damaging	0.54
R7463:Tmem94	UTSW	11	115786256	missense	possibly damaging	0.54
R7464:Tmem94	UTSW	11	115786256	missense	possibly damaging	0.54
R7465:Tmem94	UTSW	11	115786256	missense	possibly damaging	0.54
R7673:Tmem94	UTSW	11	115788378	missense	probably benign	0.05
R7995:Tmem94	UTSW	11	115797971	missense	probably damaging	1.00
R8094:Tmem94	UTSW	11	115788392	critical splice donor site	probably null
R8447:Tmem94	UTSW	11	115797197	missense	possibly damaging	0.93
R8447:Tmem94	UTSW	11	115797870	missense	probably benign
R8825:Tmem94	UTSW	11	115797375	missense	probably benign	0.00
R8910:Tmem94	UTSW	11	115797426	missense	probably damaging	1.00
R9226:Tmem94	UTSW	11	115792365	missense	probably damaging	1.00
RF003:Tmem94	UTSW	11	115796132	missense	probably damaging	1.00
X0024:Tmem94	UTSW	11	115786253	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- GCTTTATCTCACTGCCAAGAGTCCC -3'
(R):5'- TGTCATCATTGCTGCCAAAGGAAGG -3'

Sequencing Primer
(F):5'- CTGTAGGCGTTCCTCTGAG -3'
(R):5'- GTTTAGCAAGCCCTCAGCAG -3'

Posted On

2013-07-11