Mutagenetix > Incidental Mutation

Incidental Mutation 'R4229:Gm27013'

320126

Institutional Source

Beutler Lab

Gene Symbol

Gm27013

Ensembl Gene

ENSMUSG00000098025

Gene Name

predicted gene, 27013

Synonyms

MMRRC Submission

041048-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R4229 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130498277-130499300 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130654308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 385 (S385T)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182643
AA Change: S385T

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138716
Gene: ENSMUSG00000098137
AA Change: S385T

Domain	Start	End	E-Value	Type
KRAB	8	68	3.39e-35	SMART
ZnF_C2H2	453	503	1.83e2	SMART
ZnF_C2H2	509	531	6.99e-5	SMART
ZnF_C2H2	537	559	1.4e-4	SMART
ZnF_C2H2	565	587	1.6e-4	SMART
ZnF_C2H2	593	615	1.08e-5	SMART
ZnF_C2H2	621	643	1.2e-3	SMART
ZnF_C2H2	649	671	1.5e-4	SMART
ZnF_C2H2	677	699	1.58e-3	SMART
ZnF_C2H2	705	727	2.61e-4	SMART
ZnF_C2H2	733	755	4.79e-3	SMART
ZnF_C2H2	761	783	4.61e-5	SMART
ZnF_C2H2	789	811	1.13e-4	SMART
ZnF_C2H2	817	839	3.16e-3	SMART
ZnF_C2H2	845	867	1.28e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205067

Meta Mutation Damage Score

0.0812

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Aadac	A	G	3: 59,939,234 (GRCm39)	K3E	possibly damaging	Het
Cdc14a	A	G	3: 116,087,413 (GRCm39)	S533P	probably damaging	Het
Dsc3	G	A	18: 20,098,878 (GRCm39)	T767I	probably damaging	Het
Dse	A	T	10: 34,038,740 (GRCm39)	M221K	probably damaging	Het
Etfb	C	A	7: 43,105,984 (GRCm39)	R174S	probably damaging	Het
Gm10735	T	C	13: 113,177,743 (GRCm39)		probably benign	Het
Gsap	A	G	5: 21,451,975 (GRCm39)	D339G	probably benign	Het
H2-T24	G	A	17: 36,325,721 (GRCm39)	A290V	probably benign	Het
Ifi44l	A	T	3: 151,468,514 (GRCm39)	C5*	probably null	Het
Lipk	A	G	19: 33,997,687 (GRCm39)	Y56C	probably damaging	Het
Mrpl21	A	G	19: 3,336,901 (GRCm39)	I91V	probably damaging	Het
Nin	T	C	12: 70,097,984 (GRCm39)	E492G	probably damaging	Het
Nxpe4	A	G	9: 48,304,122 (GRCm39)	R70G	possibly damaging	Het
Or1e1	A	T	11: 73,245,058 (GRCm39)	T160S	probably damaging	Het
Or4k36	A	G	2: 111,146,681 (GRCm39)	I286V	probably damaging	Het
Or4p18	T	A	2: 88,233,227 (GRCm39)	Q17L	possibly damaging	Het
Or52e18	A	T	7: 104,609,801 (GRCm39)	I46N	probably benign	Het
Plaur	T	C	7: 24,166,208 (GRCm39)	V93A	probably damaging	Het
Ptprv	C	A	1: 135,053,945 (GRCm39)		noncoding transcript	Het
Rabep1	A	G	11: 70,799,260 (GRCm39)	T295A	probably benign	Het
Sec24b	G	T	3: 129,834,368 (GRCm39)	Q141K	probably benign	Het
Set	A	G	2: 29,959,531 (GRCm39)	Y139C	probably damaging	Het
Sspo	T	C	6: 48,467,868 (GRCm39)	S4272P	probably benign	Het
Tmc3	T	C	7: 83,246,610 (GRCm39)		probably benign	Het
Tmem229a	T	A	6: 24,954,831 (GRCm39)	I308F	probably damaging	Het
Vmn1r223	A	T	13: 23,433,585 (GRCm39)	M60L	probably benign	Het
Zfp148	A	G	16: 33,255,133 (GRCm39)	E41G	probably benign	Het
Zfp677	T	C	17: 21,618,544 (GRCm39)	S534P	probably damaging	Het

Other mutations in Gm27013

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4175:Gm27013	UTSW	6	130,654,110 (GRCm39)	missense	probably benign	0.00
R4408:Gm27013	UTSW	6	130,654,728 (GRCm39)	missense	possibly damaging	0.90
R4585:Gm27013	UTSW	6	130,498,003 (GRCm39)	unclassified	noncoding transcript
R4586:Gm27013	UTSW	6	130,498,003 (GRCm39)	unclassified	noncoding transcript
R4823:Gm27013	UTSW	6	130,499,186 (GRCm39)	exon	noncoding transcript
R4840:Gm27013	UTSW	6	130,655,079 (GRCm39)	missense	probably benign	0.00
R4842:Gm27013	UTSW	6	130,497,700 (GRCm39)	unclassified	noncoding transcript
R4943:Gm27013	UTSW	6	130,653,163 (GRCm39)	nonsense	probably null
R4998:Gm27013	UTSW	6	130,653,501 (GRCm39)	missense	probably damaging	0.98
R5087:Gm27013	UTSW	6	130,654,633 (GRCm39)	missense	probably damaging	0.98
R5271:Gm27013	UTSW	6	130,653,878 (GRCm39)	missense	probably damaging	1.00
R5507:Gm27013	UTSW	6	130,652,942 (GRCm39)	missense	probably damaging	1.00
R5767:Gm27013	UTSW	6	130,652,921 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- TAAGCTTGAAGATTTGAGGACTGG -3'
(R):5'- GCAACAAAACCTACTCAGTGTTAAG -3'

Sequencing Primer
(F):5'- TGAGGACTGGATAAATGAGTTCTC -3'
(R):5'- CCTACTCAGTGTTAAGGAATATGATG -3'

Posted On

2015-06-12