Mutagenetix > Incidental Mutation

Incidental Mutation 'R8246:Gm10024'

640767

Institutional Source

Beutler Lab

Gene Symbol

Gm10024

Ensembl Gene

ENSMUSG00000094012

Gene Name

predicted gene 10024

Synonyms

MMRRC Submission

067852-MU

Accession Numbers

Essential gene?

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

Stock #

R8246 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77547291-77547843 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77547369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 27 (S27T)

Ref Sequence

ENSEMBL: ENSMUSP00000074876 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075421] [ENSMUST00000092366] [ENSMUST00000092371] [ENSMUST00000179767]

AlphaFold

A0A0A0MQA4

Predicted Effect

unknown
Transcript: ENSMUST00000075421
AA Change: S27T

SMART Domains

Protein: ENSMUSP00000074876
Gene: ENSMUSG00000094012
AA Change: S27T

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: ENSMUST00000092371

SMART Domains

Protein: ENSMUSP00000090025
Gene: ENSMUSG00000069584

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	53	1.8e-7	PFAM
Pfam:Keratin_B2_2	40	83	3.7e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179767

SMART Domains

Protein: ENSMUSP00000135962
Gene: ENSMUSG00000094146

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	C	A	7: 80,742,524 (GRCm39)	D780E	probably benign	Het
Anln	A	C	9: 22,262,251 (GRCm39)	S947A	probably benign	Het
Borcs6	C	T	11: 68,951,377 (GRCm39)	P252S	probably benign	Het
Ccdc42	C	A	11: 68,478,122 (GRCm39)	Q28K	probably benign	Het
Cp	A	G	3: 20,029,186 (GRCm39)	I554M	probably damaging	Het
Dnm3	T	G	1: 162,135,486 (GRCm39)	D429A	probably damaging	Het
Dok5	A	G	2: 170,642,813 (GRCm39)	K37R	probably benign	Het
Dtwd2	A	T	18: 49,831,492 (GRCm39)	Y268N	probably benign	Het
Eif3a	T	C	19: 60,767,806 (GRCm39)	E244G	probably damaging	Het
Elapor2	T	C	5: 9,496,966 (GRCm39)	V810A	probably benign	Het
Fam149a	T	C	8: 45,834,655 (GRCm39)	E48G	probably benign	Het
Fam186a	T	A	15: 99,838,428 (GRCm39)	E2605D	unknown	Het
Fhip1b	T	C	7: 105,038,867 (GRCm39)	E124G	probably damaging	Het
Fyn	T	A	10: 39,405,525 (GRCm39)	W264R	probably damaging	Het
Gpr157	C	T	4: 150,186,753 (GRCm39)	L294F	possibly damaging	Het
Kif6	C	T	17: 50,065,542 (GRCm39)	Q506*	probably null	Het
Klrh1	A	G	6: 129,752,339 (GRCm39)		probably benign	Het
Loxhd1	A	G	18: 77,451,242 (GRCm39)	K707R	possibly damaging	Het
Mcub	C	A	3: 129,708,814 (GRCm39)	V328L	probably benign	Het
Mdn1	C	T	4: 32,657,284 (GRCm39)	P12S	probably benign	Het
Mrgprb3	T	G	7: 48,293,268 (GRCm39)	L94F	probably benign	Het
Mycbp2	G	T	14: 103,392,640 (GRCm39)	P3307Q	probably damaging	Het
Nol8	T	G	13: 49,808,724 (GRCm39)		probably benign	Het
Or11g2	A	G	14: 50,855,841 (GRCm39)	Y54C	probably benign	Het
Or4f57	T	C	2: 111,790,483 (GRCm39)	I312V	probably benign	Het
Pax5	T	C	4: 44,570,027 (GRCm39)	H286R	probably benign	Het
Rmdn2	T	A	17: 79,979,966 (GRCm39)	C381*	probably null	Het
Rpusd4	A	G	9: 35,183,876 (GRCm39)	I202V	probably benign	Het
Shank3	A	T	15: 89,417,549 (GRCm39)	R49W	possibly damaging	Het
Smurf2	T	C	11: 106,721,870 (GRCm39)	T542A	probably benign	Het
Sorcs2	G	A	5: 36,219,932 (GRCm39)	R371C	probably damaging	Het
Sqstm1	T	C	11: 50,101,388 (GRCm39)	H66R	probably damaging	Het
Stard8	C	T	X: 98,109,570 (GRCm39)	S155L	probably benign	Het
Svep1	A	T	4: 58,091,889 (GRCm39)	V1582D	probably damaging	Het
Tecrl	T	C	5: 83,427,156 (GRCm39)	M331V	probably damaging	Het
Tinf2	T	C	14: 55,917,042 (GRCm39)	S368G	probably damaging	Het
Tmem184c	A	T	8: 78,336,814 (GRCm39)	I14N	probably damaging	Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Ulk4	T	C	9: 120,985,941 (GRCm39)	*911W	probably null	Het
Unc13b	T	C	4: 43,175,954 (GRCm39)	F2261L	unknown	Het
Vps16	G	C	2: 130,280,793 (GRCm39)	G241R	probably damaging	Het
Ythdc1	C	T	5: 86,965,181 (GRCm39)	T292I	possibly damaging	Het

Other mutations in Gm10024

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL00435:Gm10024	APN	10	77,547,295 (GRCm39)	unclassified	probably benign
R1624:Gm10024	UTSW	10	77,547,606 (GRCm39)	splice site	probably null
R7581:Gm10024	UTSW	10	77,547,397 (GRCm39)	missense	unknown
R9117:Gm10024	UTSW	10	77,547,339 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGGTAATTGGAACACTGAGCTG -3'
(R):5'- ACAGTTGGACAGGATGGTTG -3'

Sequencing Primer
(F):5'- CACTGAGCTGGGTATAAAAGCC -3'
(R):5'- CCTCCAGATGACTGACAGGAG -3'

Posted On

2020-07-28