Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02366:Tmem94'

290713

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem94

Ensembl Gene

ENSMUSG00000020747

Gene Name

transmembrane protein 94

Synonyms

2310067B10Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02366

Quality Score

Status

Chromosome

Chromosomal Location

115656245-115689859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115688258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1239 (L1239P)

Ref Sequence

ENSEMBL: ENSMUSP00000099322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041684] [ENSMUST00000093912] [ENSMUST00000103033]

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

possibly damaging
Transcript: ENSMUST00000093912
AA Change: L1239P

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000091440
Gene: ENSMUSG00000020747
AA Change: L1239P

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: L1239P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099322
Gene: ENSMUSG00000020747
AA Change: L1239P

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

noncoding transcript
Transcript: ENSMUST00000175989

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	T	A	15: 12,810,859 (GRCm39)	H339L	probably benign	Het
Abcc1	T	C	16: 14,285,843 (GRCm39)		probably benign	Het
Ankrd55	T	C	13: 112,454,994 (GRCm39)	Y3H	probably damaging	Het
Armcx4	A	C	X: 133,592,261 (GRCm39)	K723T	possibly damaging	Het
Brinp3	T	A	1: 146,577,481 (GRCm39)	V172D	possibly damaging	Het
Cemip	C	T	7: 83,592,849 (GRCm39)	R1226Q	probably benign	Het
Cntn5	A	T	9: 9,984,060 (GRCm39)		probably benign	Het
Cyld	T	C	8: 89,456,381 (GRCm39)	V474A	probably damaging	Het
Dhx40	T	C	11: 86,667,528 (GRCm39)	E537G	probably damaging	Het
Efhc1	A	G	1: 21,030,486 (GRCm39)	N140D	probably damaging	Het
Eif6	A	G	2: 155,668,092 (GRCm39)	V49A	probably benign	Het
Epha4	G	T	1: 77,403,348 (GRCm39)	Y386*	probably null	Het
Ggnbp2	T	C	11: 84,732,427 (GRCm39)	K222R	probably damaging	Het
Gm5117	T	C	8: 32,227,887 (GRCm39)		noncoding transcript	Het
Gm5852	A	T	3: 93,634,568 (GRCm39)		noncoding transcript	Het
Hadha	A	G	5: 30,340,048 (GRCm39)	V243A	probably benign	Het
Hal	A	G	10: 93,339,390 (GRCm39)	N493S	probably damaging	Het
Insrr	A	G	3: 87,717,216 (GRCm39)	T731A	possibly damaging	Het
Irs4	A	T	X: 140,506,900 (GRCm39)	L432H	probably damaging	Het
Kdm4a	T	G	4: 118,017,703 (GRCm39)		probably null	Het
Lhx4	T	C	1: 155,580,934 (GRCm39)	D197G	possibly damaging	Het
Mllt10	T	A	2: 18,069,898 (GRCm39)	M18K	probably damaging	Het
Nars1	T	C	18: 64,636,599 (GRCm39)	T422A	possibly damaging	Het
Ncf2	A	G	1: 152,710,824 (GRCm39)	D445G	probably benign	Het
Ndor1	C	A	2: 25,137,993 (GRCm39)	G544V	possibly damaging	Het
Notch3	C	A	17: 32,363,179 (GRCm39)	R1268L	probably benign	Het
Or51ac3	A	T	7: 103,213,622 (GRCm39)	V288D	probably damaging	Het
Or5b117	T	C	19: 13,431,491 (GRCm39)	Y130C	probably damaging	Het
Or6c202	A	T	10: 128,996,494 (GRCm39)	Y120N	probably damaging	Het
Or8g2	T	C	9: 39,821,288 (GRCm39)	L63P	probably damaging	Het
Osgep	T	C	14: 51,157,407 (GRCm39)	D72G	probably damaging	Het
Pank4	C	T	4: 155,054,085 (GRCm39)	T88I	probably benign	Het
Pcgf6	T	C	19: 47,038,894 (GRCm39)	E122G	possibly damaging	Het
Ppp1r21	A	G	17: 88,855,090 (GRCm39)	H123R	probably damaging	Het
Prex1	A	C	2: 166,422,347 (GRCm39)	L28R	probably damaging	Het
Rbl1	A	T	2: 157,016,813 (GRCm39)	N595K	probably benign	Het
Rnf148	T	C	6: 23,654,058 (GRCm39)	I313V	probably benign	Het
Rnf220	T	C	4: 117,346,980 (GRCm39)	N144S	probably benign	Het
Sbno2	G	A	10: 79,900,036 (GRCm39)	T577I	probably damaging	Het
Sez6	T	C	11: 77,867,708 (GRCm39)	I875T	probably damaging	Het
Slco1a5	A	T	6: 142,195,941 (GRCm39)	V354D	possibly damaging	Het
Slit2	A	T	5: 48,461,410 (GRCm39)	T1486S	possibly damaging	Het
Snd1	T	C	6: 28,707,149 (GRCm39)		probably benign	Het
Sval3	T	C	6: 41,946,659 (GRCm39)		probably benign	Het
Trpm6	T	C	19: 18,755,874 (GRCm39)		probably benign	Het
Ttc9	A	C	12: 81,678,384 (GRCm39)	D69A	possibly damaging	Het
Ttn	A	T	2: 76,593,580 (GRCm39)	L20687M	probably benign	Het
Zfp748	T	A	13: 67,693,546 (GRCm39)		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
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
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

Posted On

2015-04-16