Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02369:Gm10142'

290829

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm10142

Ensembl Gene

ENSMUSG00000094146

Gene Name

predicted gene 10142

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL02369

Quality Score

Status

Chromosome

Chromosomal Location

77551641-77552003 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77551947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 103 (S103P)

Ref Sequence

ENSEMBL: ENSMUSP00000135962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075421] [ENSMUST00000092366] [ENSMUST00000092370] [ENSMUST00000179767]

AlphaFold

J3KMP7

Predicted Effect

probably benign
Transcript: ENSMUST00000075421

SMART Domains

Protein: ENSMUSP00000074876
Gene: ENSMUSG00000094012

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	53	2.6e-8	PFAM
Pfam:Keratin_B2_2	29	74	9.2e-10	PFAM
low complexity region	92	105	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092366

SMART Domains

Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581

Domain	Start	End	E-Value	Type
Blast:TSPN	1	71	8e-40	BLAST
SCOP:d1c4ra_	2	67	2e-7	SMART
low complexity region	190	200	N/A	INTRINSIC
Pfam:EPTP	208	255	2.6e-22	PFAM
Pfam:EPTP	260	307	1.4e-21	PFAM
Pfam:EPTP	312	359	8.9e-14	PFAM
Pfam:EPTP	362	417	6.2e-13	PFAM
Pfam:EPTP	422	469	1.3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000092370

SMART Domains

Protein: ENSMUSP00000090024
Gene: ENSMUSG00000069583

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	42	3.1e-6	PFAM
Pfam:Keratin_B2_2	20	68	3.1e-10	PFAM
Pfam:Keratin_B2_2	39	84	3.7e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179767
AA Change: S103P

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000135962
Gene: ENSMUSG00000094146
AA Change: S103P

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	53	1.7e-8	PFAM
Pfam:Keratin_B2_2	29	74	1.8e-9	PFAM
low complexity region	88	106	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218482

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
Adck2	G	T	6: 39,551,678 (GRCm39)	L148F	probably damaging	Het
Arhgef10	G	A	8: 15,047,551 (GRCm39)	R1138H	probably damaging	Het
Arpp21	T	C	9: 111,948,266 (GRCm39)	T668A	probably benign	Het
Atp6v0b	T	A	4: 117,742,850 (GRCm39)	I79F	possibly damaging	Het
Atp8b5	A	T	4: 43,334,205 (GRCm39)	N324Y	probably benign	Het
Bach2	A	G	4: 32,579,975 (GRCm39)	I610M	possibly damaging	Het
Casr	G	T	16: 36,315,051 (GRCm39)	D929E	probably benign	Het
Cbln2	T	C	18: 86,731,479 (GRCm39)	S96P	probably damaging	Het
Cpxm1	T	C	2: 130,238,344 (GRCm39)	K73E	probably damaging	Het
Erap1	A	G	13: 74,814,645 (GRCm39)	Y457C	probably benign	Het
Etl4	T	C	2: 20,535,000 (GRCm39)	Y152H	probably damaging	Het
Fbh1	A	T	2: 11,751,969 (GRCm39)	S910T	possibly damaging	Het
Gm12886	A	G	4: 121,280,229 (GRCm39)	S16P	unknown	Het
Gpr146	T	C	5: 139,378,443 (GRCm39)	Y82H	probably benign	Het
Herc1	C	T	9: 66,399,293 (GRCm39)	Q4282*	probably null	Het
Htr2a	A	T	14: 74,943,722 (GRCm39)	E434V	probably benign	Het
Iqsec3	T	C	6: 121,389,893 (GRCm39)		probably benign	Het
Islr	A	C	9: 58,064,907 (GRCm39)	V200G	probably damaging	Het
Katnal1	T	C	5: 148,815,737 (GRCm39)	D400G	probably benign	Het
Lonrf2	A	G	1: 38,850,913 (GRCm39)		probably benign	Het
Lrp2	A	T	2: 69,294,980 (GRCm39)	L3446Q	probably damaging	Het
Med12l	G	A	3: 59,164,794 (GRCm39)	V1425I	probably benign	Het
Myh13	T	C	11: 67,251,100 (GRCm39)		probably benign	Het
Nutm2	T	G	13: 50,623,944 (GRCm39)	S214A	probably benign	Het
Or10aa1	T	A	1: 173,869,539 (GRCm39)	W8R	possibly damaging	Het
Or2h1b	A	G	17: 37,462,665 (GRCm39)	F66S	probably damaging	Het
Or5b99	T	C	19: 12,977,072 (GRCm39)	S241P	probably damaging	Het
Or6c33	C	A	10: 129,853,425 (GRCm39)	A65E	possibly damaging	Het
Pax5	A	T	4: 44,691,919 (GRCm39)	M109K	probably damaging	Het
Pfkfb2	G	A	1: 130,628,572 (GRCm39)	R345W	probably damaging	Het
Pkd1l3	A	G	8: 110,342,977 (GRCm39)	D105G	unknown	Het
Prdm11	A	G	2: 92,805,864 (GRCm39)	V362A	probably benign	Het
Prex2	T	C	1: 11,171,393 (GRCm39)		probably null	Het
Prl8a1	T	C	13: 27,760,924 (GRCm39)	T103A	possibly damaging	Het
Rgl1	T	C	1: 152,409,357 (GRCm39)	I493V	probably damaging	Het
Rimkla	A	G	4: 119,335,146 (GRCm39)	V79A	possibly damaging	Het
Ryr2	A	T	13: 11,634,382 (GRCm39)	S3791R	possibly damaging	Het
Sh3rf2	C	A	18: 42,289,222 (GRCm39)	S681*	probably null	Het
Stmnd1	T	A	13: 46,439,029 (GRCm39)	I87K	probably benign	Het
Tspan8	C	A	10: 115,675,782 (GRCm39)	F149L	probably benign	Het
Tspan8	A	C	10: 115,675,783 (GRCm39)	K150Q	probably benign	Het
Ttn	T	C	2: 76,772,720 (GRCm39)	E2425G	probably damaging	Het

Other mutations in Gm10142

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0244:Gm10142	UTSW	10	77,551,848 (GRCm39)	splice site	probably null
R1293:Gm10142	UTSW	10	77,551,869 (GRCm39)	missense	probably benign	0.03
R1918:Gm10142	UTSW	10	77,551,821 (GRCm39)	missense	probably benign	0.32
R5047:Gm10142	UTSW	10	77,551,996 (GRCm39)	missense	probably damaging	1.00
R5814:Gm10142	UTSW	10	77,551,957 (GRCm39)	missense	probably damaging	0.99
R8248:Gm10142	UTSW	10	77,551,950 (GRCm39)	missense	probably damaging	0.96
R8279:Gm10142	UTSW	10	77,552,001 (GRCm39)	makesense	probably null
R9681:Gm10142	UTSW	10	77,551,880 (GRCm39)	nonsense	probably null
R9685:Gm10142	UTSW	10	77,551,762 (GRCm39)	missense	unknown

Posted On

2015-04-16