Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02355:Tmem94'

289666

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?

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

Stock #

IGL02355

Quality Score

Status

Chromosome

Chromosomal Location

115656245-115689859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 115685571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 941 (S941R)

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: S941R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000091440
Gene: ENSMUSG00000020747
AA Change: S941R

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: S941R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099322
Gene: ENSMUSG00000020747
AA Change: S941R

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	C	A	8: 25,187,207 (GRCm39)	C428F	probably damaging	Het
Alas1	T	C	9: 106,113,838 (GRCm39)	Y469C	probably damaging	Het
Asxl1	C	T	2: 153,243,706 (GRCm39)	L1419F	probably benign	Het
Bcan	C	T	3: 87,901,449 (GRCm39)	D418N	possibly damaging	Het
Cdc42bpg	A	G	19: 6,360,839 (GRCm39)	D199G	possibly damaging	Het
Chst15	T	C	7: 131,868,401 (GRCm39)	N340D	probably benign	Het
Col12a1	T	G	9: 79,537,993 (GRCm39)		probably benign	Het
Cyp2c67	T	A	19: 39,631,849 (GRCm39)	H116L	probably benign	Het
Cyp2c67	G	A	19: 39,605,826 (GRCm39)	R357*	probably null	Het
Ears2	T	C	7: 121,643,773 (GRCm39)	D395G	probably benign	Het
Fam227a	A	T	15: 79,528,139 (GRCm39)		probably benign	Het
Fap	A	G	2: 62,403,842 (GRCm39)	V11A	probably benign	Het
Ganc	A	G	2: 120,264,238 (GRCm39)	D397G	probably damaging	Het
Gjb6	C	A	14: 57,361,752 (GRCm39)	G170C	possibly damaging	Het
Gria2	A	T	3: 80,614,244 (GRCm39)	W599R	probably damaging	Het
Gvin-ps5	T	C	7: 105,929,480 (GRCm39)		noncoding transcript	Het
Ighv1-64	A	G	12: 115,471,236 (GRCm39)	S94P	probably benign	Het
Kifc3	C	T	8: 95,836,507 (GRCm39)	A85T	probably damaging	Het
Lifr	G	A	15: 7,194,174 (GRCm39)		probably null	Het
Lonp2	T	G	8: 87,350,874 (GRCm39)	S21R	probably benign	Het
Nxpe3	A	G	16: 55,710,949 (GRCm39)	V30A	probably benign	Het
Olfml1	T	C	7: 107,167,010 (GRCm39)	V13A	probably benign	Het
Or10w1	T	C	19: 13,632,597 (GRCm39)	V268A	probably benign	Het
Or1af1	A	G	2: 37,109,681 (GRCm39)	Y60C	probably damaging	Het
Pcnt	G	A	10: 76,210,996 (GRCm39)	Q2376*	probably null	Het
Pglyrp2	A	G	17: 32,635,996 (GRCm39)	L380P	probably damaging	Het
Plin3	A	G	17: 56,593,636 (GRCm39)	V26A	probably benign	Het
Potefam1	T	C	2: 111,041,996 (GRCm39)		probably benign	Het
Pramel25	A	G	4: 143,519,580 (GRCm39)	S114G	probably damaging	Het
Rims1	A	G	1: 22,522,288 (GRCm39)	I470T	probably damaging	Het
Rora	T	C	9: 69,281,374 (GRCm39)	Y329H	probably damaging	Het
Scnn1b	G	A	7: 121,516,770 (GRCm39)	R503H	probably damaging	Het
Sec14l1	A	G	11: 117,035,675 (GRCm39)	D237G	possibly damaging	Het
Selplg	A	G	5: 113,957,467 (GRCm39)	S280P	probably benign	Het
Serpina12	A	G	12: 104,004,140 (GRCm39)	L164P	probably benign	Het
Sik2	C	T	9: 50,828,903 (GRCm39)	W176*	probably null	Het
Slc2a1	T	C	4: 118,993,612 (GRCm39)	F483S	possibly damaging	Het
Speg	A	G	1: 75,400,559 (GRCm39)	D2573G	possibly damaging	Het
Stil	C	T	4: 114,867,308 (GRCm39)	S239L	probably damaging	Het
Tnfrsf11b	T	A	15: 54,115,778 (GRCm39)	D273V	probably damaging	Het
Tns2	A	G	15: 102,020,725 (GRCm39)	T864A	probably benign	Het
Zfpm2	A	G	15: 40,962,890 (GRCm39)	H184R	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
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
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