Mutagenetix > Incidental Mutation

Incidental Mutation 'R8162:Gm8674'

633586

Institutional Source

Beutler Lab

Gene Symbol

Gm8674

Ensembl Gene

ENSMUSG00000093976

Gene Name

predicted gene 8674

Synonyms

MMRRC Submission

067588-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R8162 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50053085-50056359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50054407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 700 (D700E)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179367
AA Change: D700E

SMART Domains

Protein: ENSMUSP00000137219
Gene: ENSMUSG00000093976
AA Change: D700E

Domain	Start	End	E-Value	Type
low complexity region	70	86	N/A	INTRINSIC
Pfam:FAM75	92	444	3.6e-27	PFAM

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol7b	T	A	15: 77,307,430 (GRCm39)	Q355L	probably benign	Het
Asb14	A	T	14: 26,633,945 (GRCm39)	Q383H	probably benign	Het
Ash1l	T	G	3: 88,977,553 (GRCm39)	M2661R	probably damaging	Het
Cacna1e	G	T	1: 154,577,313 (GRCm39)		probably null	Het
Ccdc40	G	T	11: 119,150,870 (GRCm39)		probably null	Het
Cd27	T	A	6: 125,210,188 (GRCm39)		probably null	Het
Ces3b	T	C	8: 105,817,385 (GRCm39)	L371S	possibly damaging	Het
Clec4a2	T	A	6: 123,117,711 (GRCm39)	Y210N	probably damaging	Het
Cpeb2	A	T	5: 43,394,681 (GRCm39)	H553L		Het
Cpne8	T	C	15: 90,503,881 (GRCm39)	I95V	probably benign	Het
D630039A03Rik	T	C	4: 57,910,525 (GRCm39)	T96A	probably benign	Het
Dand5	C	A	8: 85,543,147 (GRCm39)	G110C	probably damaging	Het
Erich3	C	T	3: 154,470,210 (GRCm39)	T1554M	unknown	Het
Evi5l	T	C	8: 4,241,300 (GRCm39)	S278P	probably damaging	Het
Farp2	C	A	1: 93,548,325 (GRCm39)	H1003Q	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gm13741	A	C	2: 87,486,446 (GRCm39)	M273R	possibly damaging	Het
Gm28363	T	A	1: 117,626,641 (GRCm39)	D26E	unknown	Het
Gtf3c4	G	A	2: 28,724,593 (GRCm39)	Q380*	probably null	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Il1a	A	T	2: 129,148,477 (GRCm39)	S78T	possibly damaging	Het
Kdm2b	A	T	5: 123,072,856 (GRCm39)	Y341N	probably damaging	Het
Mcc	T	C	18: 44,582,508 (GRCm39)		probably null	Het
Met	A	G	6: 17,547,061 (GRCm39)	D898G	probably damaging	Het
Mogs	T	C	6: 83,092,863 (GRCm39)	V101A	probably damaging	Het
Mrgpra4	A	T	7: 47,631,221 (GRCm39)	Y127N	probably damaging	Het
Ms4a18	A	G	19: 10,991,071 (GRCm39)	S8P	probably benign	Het
Muc4	A	T	16: 32,569,197 (GRCm39)	T148S	unknown	Het
Nutm1	G	A	2: 112,078,817 (GRCm39)	L1033F	probably benign	Het
Ocstamp	G	T	2: 165,239,787 (GRCm39)	A133D	probably damaging	Het
Or1ab2	T	G	8: 72,864,253 (GRCm39)	V281G	noncoding transcript	Het
Or5p63	T	C	7: 107,810,995 (GRCm39)	H247R	probably damaging	Het
Or8g17	T	A	9: 38,930,249 (GRCm39)	D196V	probably benign	Het
Or9s18	G	A	13: 65,300,734 (GRCm39)	R232Q	probably damaging	Het
Phf12	C	A	11: 77,915,651 (GRCm39)	P46Q	probably damaging	Het
Prf1	A	G	10: 61,138,749 (GRCm39)	T236A	probably damaging	Het
Ptcd3	A	G	6: 71,884,798 (GRCm39)	V47A	probably benign	Het
Rapgef1	A	T	2: 29,626,011 (GRCm39)	N1071Y	probably damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rnf26rt	C	A	6: 76,473,558 (GRCm39)	A353S	probably benign	Het
Tango6	C	T	8: 107,409,882 (GRCm39)	P33L	possibly damaging	Het
Tasor2	G	T	13: 3,649,691 (GRCm39)	T36N	probably damaging	Het
Tbc1d2b	C	T	9: 90,089,937 (GRCm39)	R864H	probably damaging	Het
Tent2	A	G	13: 93,304,432 (GRCm39)		probably null	Het
Trav10n	A	T	14: 53,359,929 (GRCm39)	I69L	probably benign	Het
Tsks	A	G	7: 44,603,296 (GRCm39)	Q366R	probably damaging	Het
Vcan	G	T	13: 89,853,106 (GRCm39)	S618*	probably null	Het
Vwf	T	A	6: 125,622,799 (GRCm39)		probably null	Het
Zfp827	T	A	8: 79,787,206 (GRCm39)	L124*	probably null	Het

Other mutations in Gm8674

Allele	Source	Chr	Coord	Type	Predicted Effect
R0355:Gm8674	UTSW	13	50,055,975 (GRCm39)	exon	noncoding transcript
R0357:Gm8674	UTSW	13	50,056,149 (GRCm39)	exon	noncoding transcript
R0627:Gm8674	UTSW	13	50,053,751 (GRCm39)	exon	noncoding transcript
R0833:Gm8674	UTSW	13	50,058,611 (GRCm39)	exon	noncoding transcript
R1300:Gm8674	UTSW	13	50,055,758 (GRCm39)	exon	noncoding transcript
R1452:Gm8674	UTSW	13	50,054,553 (GRCm39)	exon	noncoding transcript
R1542:Gm8674	UTSW	13	50,054,039 (GRCm39)	exon	noncoding transcript
R1613:Gm8674	UTSW	13	50,056,474 (GRCm39)	intron	noncoding transcript
R1643:Gm8674	UTSW	13	50,055,394 (GRCm39)	exon	noncoding transcript
R1732:Gm8674	UTSW	13	50,055,962 (GRCm39)	exon	noncoding transcript
R1824:Gm8674	UTSW	13	50,054,844 (GRCm39)	exon	noncoding transcript
R1840:Gm8674	UTSW	13	50,055,801 (GRCm39)	exon	noncoding transcript
R1915:Gm8674	UTSW	13	50,054,889 (GRCm39)	exon	noncoding transcript
R1934:Gm8674	UTSW	13	50,055,471 (GRCm39)	exon	noncoding transcript
R2040:Gm8674	UTSW	13	50,055,705 (GRCm39)	exon	noncoding transcript
R2214:Gm8674	UTSW	13	50,055,396 (GRCm39)	exon	noncoding transcript
R2421:Gm8674	UTSW	13	50,054,699 (GRCm39)	exon	noncoding transcript
R3423:Gm8674	UTSW	13	50,055,792 (GRCm39)	exon	noncoding transcript
R3425:Gm8674	UTSW	13	50,055,792 (GRCm39)	exon	noncoding transcript
R3886:Gm8674	UTSW	13	50,056,199 (GRCm39)	splice site	noncoding transcript
R4083:Gm8674	UTSW	13	50,055,047 (GRCm39)	exon	noncoding transcript
R4343:Gm8674	UTSW	13	50,053,742 (GRCm39)	exon	noncoding transcript
R4570:Gm8674	UTSW	13	50,056,570 (GRCm39)	intron	noncoding transcript
R4936:Gm8674	UTSW	13	50,054,791 (GRCm39)	exon	noncoding transcript
R4967:Gm8674	UTSW	13	50,056,034 (GRCm39)	exon	noncoding transcript
R5065:Gm8674	UTSW	13	50,056,613 (GRCm39)	intron	noncoding transcript
R5067:Gm8674	UTSW	13	50,053,870 (GRCm39)	exon	noncoding transcript
R5120:Gm8674	UTSW	13	50,055,984 (GRCm39)	exon	noncoding transcript
R5208:Gm8674	UTSW	13	50,055,957 (GRCm39)	exon	noncoding transcript
R5268:Gm8674	UTSW	13	50,055,390 (GRCm39)	exon	noncoding transcript
R5471:Gm8674	UTSW	13	50,054,849 (GRCm39)	exon	noncoding transcript
R5773:Gm8674	UTSW	13	50,055,912 (GRCm39)	exon	noncoding transcript
R5809:Gm8674	UTSW	13	50,055,924 (GRCm39)	exon	noncoding transcript
R8239:Gm8674	UTSW	13	50,054,262 (GRCm39)	missense	noncoding transcript
Z1088:Gm8674	UTSW	13	50,055,284 (GRCm39)	exon	noncoding transcript
Z1088:Gm8674	UTSW	13	50,054,830 (GRCm39)	exon	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- TGATCTCATCCTTTGGGACACTG -3'
(R):5'- ACACCTTCATGGAGGCTGAG -3'

Sequencing Primer
(F):5'- GGACACTGTTCTCTTGAGTATAGACC -3'
(R):5'- TGGGATCCAGTAACACTCACAATG -3'

Posted On

2020-07-13