Mutagenetix > Incidental Mutation

Incidental Mutation 'R4477:Gm7138'

377808

Institutional Source

Beutler Lab

Gene Symbol

Gm7138

Ensembl Gene

ENSMUSG00000095593

Gene Name

predicted gene 7138

Synonyms

MMRRC Submission

041734-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R4477 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

77612086-77612778 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 77612246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000090020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092366] [ENSMUST00000167669]

AlphaFold

L7N2C3

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

unknown
Transcript: ENSMUST00000167669
AA Change: L178Q

SMART Domains

Protein: ENSMUSP00000130212
Gene: ENSMUSG00000095593
AA Change: L178Q

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	7	66	1.1e-8	PFAM
Pfam:Keratin_B2_2	111	161	1.7e-5	PFAM
low complexity region	166	190	N/A	INTRINSIC
low complexity region	192	204	N/A	INTRINSIC

Meta Mutation Damage Score

0.4906

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

93% (39/42)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	A	G	9: 44,186,383 (GRCm39)	S549P	probably damaging	Het
Agfg1	T	C	1: 82,853,061 (GRCm39)	S75P	probably damaging	Het
AK157302	T	A	13: 21,679,861 (GRCm39)	V129E	possibly damaging	Het
Angpt1	A	G	15: 42,331,560 (GRCm39)	Y344H	probably damaging	Het
Ap1m2	A	G	9: 21,209,509 (GRCm39)	V389A	probably benign	Het
Bicd2	T	A	13: 49,531,448 (GRCm39)	I230N	probably damaging	Het
C5ar1	T	C	7: 15,982,789 (GRCm39)	N77S	probably damaging	Het
Cacna1c	C	T	6: 118,607,200 (GRCm39)	V1235M	possibly damaging	Het
Cdh15	A	G	8: 123,591,415 (GRCm39)	H517R	probably benign	Het
D130040H23Rik	C	A	8: 69,755,155 (GRCm39)	H187N	possibly damaging	Het
Dbn1	CCCGCTCCCGGTAGCGCCGCTC	CCCGCTC	13: 55,629,374 (GRCm39)		probably benign	Het
Eif4g1	G	T	16: 20,497,593 (GRCm39)		probably benign	Het
Fmn1	T	A	2: 113,274,744 (GRCm39)		probably benign	Het
Gm3159	T	C	14: 4,398,584 (GRCm38)	Y92H	probably damaging	Het
Ift172	C	T	5: 31,422,781 (GRCm39)	A890T	probably benign	Het
Inpp5j	T	C	11: 3,451,625 (GRCm39)	T426A	probably damaging	Het
Katna1	T	C	10: 7,614,594 (GRCm39)	V32A	probably damaging	Het
Lrrc71	G	C	3: 87,649,972 (GRCm39)	R319G	probably damaging	Het
Lyst	G	A	13: 13,809,968 (GRCm39)	R546H	probably damaging	Het
Mmp19	A	T	10: 128,631,506 (GRCm39)	T129S	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Neo1	T	C	9: 58,784,582 (GRCm39)	D1458G	probably damaging	Het
Nup35	T	C	2: 80,487,487 (GRCm39)		probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Pdlim5	C	T	3: 141,964,978 (GRCm39)	S417N	probably benign	Het
Pla2g4f	A	G	2: 120,134,153 (GRCm39)	S478P	probably damaging	Het
Plekhn1	G	A	4: 156,307,856 (GRCm39)	R357W	probably damaging	Het
Pom121	T	C	5: 135,410,842 (GRCm39)	T772A	unknown	Het
Pramel20	A	G	4: 143,297,732 (GRCm39)	I51V	probably benign	Het
Rasgef1a	A	T	6: 118,062,436 (GRCm39)	H232L	possibly damaging	Het
Sdad1	A	G	5: 92,445,019 (GRCm39)	M315T	probably damaging	Het
Syt9	A	G	7: 107,024,428 (GRCm39)	N107S	probably damaging	Het
Traf3	T	C	12: 111,215,036 (GRCm39)	S202P	probably benign	Het
Vmn2r9	T	C	5: 108,994,143 (GRCm39)	E502G	probably benign	Het
Vps8	A	T	16: 21,363,986 (GRCm39)		probably benign	Het
Zfp770	G	A	2: 114,027,365 (GRCm39)	L235F	probably damaging	Het

Other mutations in Gm7138

Allele	Source	Chr	Coord	Type	Predicted Effect
R1732:Gm7138	UTSW	10	77,612,682 (GRCm39)	intron	probably benign
R7240:Gm7138	UTSW	10	77,612,589 (GRCm39)	missense	unknown
R8354:Gm7138	UTSW	10	77,612,444 (GRCm39)	intron	probably benign
R8806:Gm7138	UTSW	10	77,612,717 (GRCm39)	missense	unknown
R9140:Gm7138	UTSW	10	77,612,682 (GRCm39)	intron	probably benign
Z1176:Gm7138	UTSW	10	77,612,687 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATGAGTAGCAACCACAGGCTG -3'
(R):5'- ATCTGCTCTGGACCATGCTG -3'

Sequencing Primer
(F):5'- GCCCTGCTGCCTTAGTGTG -3'
(R):5'- TCTGGACCATGCTGCCAGC -3'

Posted On

2016-04-06