Mutagenetix > Incidental Mutation

Incidental Mutation 'R5767:Gm27013'

446325

Institutional Source

Beutler Lab

Gene Symbol

Gm27013

Ensembl Gene

ENSMUSG00000098025

Gene Name

predicted gene, 27013

Synonyms

MMRRC Submission

043367-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R5767 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130498277-130499300 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 130652921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 847 (C847Y)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182643
AA Change: C847Y

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138716
Gene: ENSMUSG00000098137
AA Change: C847Y

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

0.7300

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr6	A	T	10: 89,562,617 (GRCm39)	D87E	probably damaging	Het
AI429214	TCCCTGATGAAC	TC	8: 37,461,383 (GRCm39)		probably null	Het
Ano3	A	T	2: 110,491,616 (GRCm39)	Y887N	probably damaging	Het
Arid4a	A	G	12: 71,106,867 (GRCm39)	D313G	probably damaging	Het
Armc2	A	G	10: 41,887,923 (GRCm39)	V20A	probably benign	Het
Bltp3b	A	G	10: 89,623,061 (GRCm39)	D312G	possibly damaging	Het
C2	T	A	17: 35,095,432 (GRCm39)	N171I	possibly damaging	Het
Cdh1	C	A	8: 107,395,187 (GRCm39)	N865K	probably damaging	Het
Cep89	T	A	7: 35,117,070 (GRCm39)	V224E	probably damaging	Het
Cfap251	G	A	5: 123,436,584 (GRCm39)	V1038I	probably benign	Het
Dennd2d	C	T	3: 106,395,131 (GRCm39)		probably benign	Het
Diaph1	T	A	18: 37,986,408 (GRCm39)	K1157N	probably damaging	Het
Dsg4	T	A	18: 20,595,549 (GRCm39)	L584*	probably null	Het
Exoc4	G	A	6: 33,895,367 (GRCm39)	A795T	probably benign	Het
Fbln5	A	T	12: 101,731,468 (GRCm39)	I242N	probably damaging	Het
Gls2	A	G	10: 128,041,090 (GRCm39)	H394R	probably damaging	Het
Ifna5	C	A	4: 88,754,036 (GRCm39)	T92K	possibly damaging	Het
Ireb2	A	G	9: 54,807,800 (GRCm39)	M674V	probably benign	Het
Itga2	C	T	13: 114,976,106 (GRCm39)	V1089M	possibly damaging	Het
Kctd16	A	T	18: 40,391,922 (GRCm39)	Y170F	probably benign	Het
Kif15	A	G	9: 122,843,039 (GRCm39)	N45D	possibly damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Mink1	A	G	11: 70,496,901 (GRCm39)	K420E	possibly damaging	Het
Ms4a14	G	T	19: 11,279,391 (GRCm39)	Q1056K	probably benign	Het
Or11g1	T	C	14: 50,651,235 (GRCm39)	V78A	possibly damaging	Het
Or5k8	T	C	16: 58,644,316 (GRCm39)	Y252C	probably benign	Het
Or8k21	T	A	2: 86,144,742 (GRCm39)	E296V	probably damaging	Het
Ovch2	T	C	7: 107,381,185 (GRCm39)	E571G	probably benign	Het
Pmel	T	C	10: 128,550,250 (GRCm39)	V95A	probably damaging	Het
Ptger2	G	T	14: 45,226,599 (GRCm39)	G60C	probably benign	Het
Ranbp2	T	G	10: 58,312,647 (GRCm39)	S1122R	probably benign	Het
Rasal2	T	C	1: 157,003,732 (GRCm39)	D309G	probably damaging	Het
Rcc2	T	A	4: 140,443,230 (GRCm39)	C303S	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Serpini1	C	T	3: 75,520,388 (GRCm39)		probably benign	Het
Sgo2a	G	T	1: 58,058,819 (GRCm39)	E1133*	probably null	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Smarcc1	G	A	9: 109,961,251 (GRCm39)		probably benign	Het
Tbcd	A	G	11: 121,483,518 (GRCm39)	E749G	probably benign	Het
Tmc3	G	A	7: 83,249,190 (GRCm39)	A260T	probably benign	Het
Tnfrsf21	A	G	17: 43,348,550 (GRCm39)	Y54C	probably damaging	Het
Urb1	T	A	16: 90,573,051 (GRCm39)	M994L	probably benign	Het
Usp14	A	T	18: 10,009,935 (GRCm39)		probably benign	Het
Vps13a	T	C	19: 16,641,928 (GRCm39)	Y2233C	probably damaging	Het
Wnt2	G	T	6: 17,990,027 (GRCm39)	A290E	probably damaging	Het
Zc3h8	A	T	2: 128,772,812 (GRCm39)	C225*	probably null	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
R4229:Gm27013	UTSW	6	130,654,308 (GRCm39)	missense	possibly damaging	0.89
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

Predicted Primers

PCR Primer
(F):5'- GTGAGCTTCATGATCTGAGTGT -3'
(R):5'- TTAAAGTTCACCAGCGAATTCATACAG -3'

Sequencing Primer
(F):5'- AGTGTTGTGTAAAGGATTTGCCAC -3'
(R):5'- CTCGGAGCTTAAAGTTCACTACAG -3'

Posted On

2016-11-21