Mutagenetix > Incidental Mutation

Incidental Mutation 'R6244:D5Ertd579e'

505441

Institutional Source

Beutler Lab

Gene Symbol

D5Ertd579e

Ensembl Gene

ENSMUSG00000029190

Gene Name

DNA segment, Chr 5, ERATO Doi 579, expressed

Synonyms

MMRRC Submission

044435-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.265) question?

Stock #

R6244 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36600485-36696024 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36615276 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 592 (F592L)

Ref Sequence

ENSEMBL: ENSMUSP00000031091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031091]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031091
AA Change: F592L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: F592L

Domain	Start	End	E-Value	Type
Pfam:DUF4603	23	1303	N/A	PFAM
low complexity region	1365	1376	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132383

SMART Domains

Protein: ENSMUSP00000116548
Gene: ENSMUSG00000029190

Domain	Start	End	E-Value	Type
Pfam:DUF4603	1	1181	N/A	PFAM
low complexity region	1243	1254	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140063

SMART Domains

Protein: ENSMUSP00000118804
Gene: ENSMUSG00000029190

Domain	Start	End	E-Value	Type
Pfam:DUF4603	23	77	1e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150088

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201187

Meta Mutation Damage Score

0.0591

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

96% (82/85)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,956,999 (GRCm38)	V1782A	probably benign	Het
6430550D23Rik	T	C	2: 156,003,230 (GRCm38)	H113R	possibly damaging	Het
Adgrf3	A	T	5: 30,197,533 (GRCm38)	M499K	probably benign	Het
Adgrv1	G	A	13: 81,106,931 (GRCm38)	T211I	probably damaging	Het
Adss	C	T	1: 177,776,829 (GRCm38)	E153K	probably benign	Het
Ago4	C	A	4: 126,511,487 (GRCm38)	G431V	possibly damaging	Het
Araf	G	T	X: 20,860,100 (GRCm38)	R601L	probably damaging	Homo
Atp2b4	T	A	1: 133,726,561 (GRCm38)	I769F	probably damaging	Het
Atp9a	T	C	2: 168,689,352 (GRCm38)		probably null	Het
Brap	C	A	5: 121,665,309 (GRCm38)	D173E	probably benign	Het
Brca2	G	T	5: 150,566,978 (GRCm38)	R3035L	probably benign	Het
Ccdc8	C	A	7: 16,996,251 (GRCm38)	P555Q	probably benign	Het
Ccser2	A	G	14: 36,940,718 (GRCm38)	S170P	probably benign	Het
Celsr2	T	C	3: 108,393,128 (GRCm38)	H860R	probably damaging	Het
Cenpc1	C	A	5: 86,046,385 (GRCm38)	R174M	probably damaging	Het
Cfap57	T	G	4: 118,579,410 (GRCm38)	I930L	probably damaging	Het
Cx3cr1	C	T	9: 120,051,694 (GRCm38)	R214H	probably damaging	Het
Cyp4f14	T	A	17: 32,906,317 (GRCm38)	H429L	probably benign	Het
Ddb1	A	G	19: 10,625,923 (GRCm38)	E865G	probably damaging	Het
Ddx50	A	T	10: 62,621,566 (GRCm38)		probably null	Het
Dpp6	A	G	5: 27,049,628 (GRCm38)	T14A	probably damaging	Het
Echs1	C	A	7: 140,113,069 (GRCm38)	Q51H	possibly damaging	Het
Ecm2	A	T	13: 49,530,307 (GRCm38)	D587V	probably damaging	Het
Ect2l	A	T	10: 18,140,397 (GRCm38)	Y666N	possibly damaging	Het
Epha2	G	A	4: 141,316,912 (GRCm38)	G342S	probably benign	Het
Fbxo33	C	A	12: 59,206,079 (GRCm38)	K211N	probably benign	Het
Fchsd2	A	G	7: 101,259,776 (GRCm38)		probably null	Het
Fen1	A	G	19: 10,200,687 (GRCm38)	V131A	probably damaging	Het
Fetub	C	T	16: 22,932,331 (GRCm38)	R143C	probably damaging	Het
Flnb	A	G	14: 7,892,092 (GRCm38)	E587G	probably damaging	Het
Foxd3	A	G	4: 99,657,240 (GRCm38)	T206A	possibly damaging	Het
Fut1	A	G	7: 45,619,306 (GRCm38)	E228G	possibly damaging	Het
Galnt13	T	C	2: 54,933,548 (GRCm38)	F379L	probably damaging	Het
Gcnt2	A	C	13: 40,861,241 (GRCm38)	E296A	probably damaging	Het
Gm7145	T	A	1: 117,986,140 (GRCm38)	C251S	probably damaging	Het
Gpam	G	A	19: 55,070,985 (GRCm38)	P810L	probably damaging	Het
Il1rl2	T	A	1: 40,327,566 (GRCm38)	L87M	possibly damaging	Het
Itgae	A	G	11: 73,145,601 (GRCm38)	S1122G	probably damaging	Het
Kcnh7	T	A	2: 63,182,226 (GRCm38)	D46V	probably damaging	Het
Kcnn3	T	G	3: 89,645,523 (GRCm38)	Y511*	probably null	Het
Kdm3b	T	A	18: 34,793,005 (GRCm38)	I66N	probably damaging	Het
Klk1b27	A	T	7: 44,054,550 (GRCm38)	H39L	probably benign	Het
Kmo	C	T	1: 175,659,695 (GRCm38)	T404I	possibly damaging	Het
Krt222	C	T	11: 99,235,058 (GRCm38)		probably null	Het
Magi3	G	C	3: 104,015,697 (GRCm38)	H1235D	probably benign	Het
Mapk8ip1	C	A	2: 92,389,244 (GRCm38)	G81C	probably damaging	Het
Med15	G	A	16: 17,652,745 (GRCm38)	Q583*	probably null	Het
Mroh2a	T	C	1: 88,256,754 (GRCm38)	V1453A	probably benign	Het
Myh13	A	G	11: 67,362,501 (GRCm38)	M1488V	probably benign	Het
Naip2	A	T	13: 100,152,137 (GRCm38)	F1193L	probably damaging	Het
Nop58	T	A	1: 59,702,855 (GRCm38)	M181K	probably damaging	Het
Npepps	A	T	11: 97,213,790 (GRCm38)	V796D	probably damaging	Het
Nr1d1	A	G	11: 98,770,537 (GRCm38)	F301S	probably damaging	Het
Nynrin	G	A	14: 55,868,028 (GRCm38)	V832I	probably damaging	Het
Olfr1046	T	A	2: 86,217,222 (GRCm38)	T163S	possibly damaging	Het
Olfr1508	T	A	14: 52,463,895 (GRCm38)	Y38F	probably damaging	Het
Olfr320	A	T	11: 58,684,004 (GRCm38)	T44S	possibly damaging	Het
Olfr342	T	A	2: 36,528,341 (GRCm38)	C310S	probably benign	Het
Olfr61	C	A	7: 140,638,433 (GRCm38)	S244Y	probably damaging	Het
Phrf1	T	A	7: 141,237,673 (GRCm38)	C132S	probably damaging	Het
Plekhn1	T	C	4: 156,230,558 (GRCm38)		probably null	Het
Polr2a	G	A	11: 69,744,226 (GRCm38)	T569M	probably damaging	Het
Prr29	A	G	11: 106,376,632 (GRCm38)		probably null	Het
Rsf1	CG	CGACGGCGGAG	7: 97,579,908 (GRCm38)		probably benign	Homo
Sc5d	T	C	9: 42,255,421 (GRCm38)	E274G	probably benign	Het
Serpina1d	A	T	12: 103,764,828 (GRCm38)		probably null	Het
Serpinb11	T	A	1: 107,372,242 (GRCm38)	I106N	probably damaging	Het
Setd2	G	A	9: 110,548,665 (GRCm38)	R516K	probably damaging	Het
Sirt2	G	T	7: 28,787,797 (GRCm38)	C291F	probably damaging	Het
Stac3	T	C	10: 127,508,175 (GRCm38)	V314A	probably damaging	Het
Stat6	C	T	10: 127,657,712 (GRCm38)		probably null	Het
Strn3	A	G	12: 51,610,107 (GRCm38)	V712A	probably damaging	Het
Tmc5	G	T	7: 118,634,214 (GRCm38)	G84C	possibly damaging	Het
Tnik	C	A	3: 28,650,179 (GRCm38)	L996I	probably damaging	Het
Trim30d	G	T	7: 104,487,610 (GRCm38)	T129K	probably damaging	Het
Triml1	G	T	8: 43,138,756 (GRCm38)	Y188*	probably null	Het
Trpc7	A	G	13: 56,773,892 (GRCm38)	Y760H	probably damaging	Het
Uaca	G	A	9: 60,870,044 (GRCm38)	R571Q	probably damaging	Het
Ubash3a	A	T	17: 31,239,272 (GRCm38)	Q575L	possibly damaging	Het
Usp49	T	A	17: 47,672,902 (GRCm38)	C61*	probably null	Het
Vmn2r18	A	T	5: 151,584,651 (GRCm38)	V336E	probably damaging	Het
Vwa8	T	C	14: 79,086,662 (GRCm38)	V1135A	probably benign	Het
Zcchc4	T	C	5: 52,783,161 (GRCm38)	V24A	probably benign	Het
Zfp354c	A	G	11: 50,814,971 (GRCm38)	Y426H	probably benign	Het

Other mutations in D5Ertd579e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:D5Ertd579e	APN	5	36,618,754 (GRCm38)	missense	probably damaging	0.99
IGL01925:D5Ertd579e	APN	5	36,614,284 (GRCm38)	missense	possibly damaging	0.67
IGL01933:D5Ertd579e	APN	5	36,615,756 (GRCm38)	missense	probably benign
IGL02164:D5Ertd579e	APN	5	36,614,959 (GRCm38)	missense	probably damaging	1.00
IGL02399:D5Ertd579e	APN	5	36,616,185 (GRCm38)	missense	probably damaging	1.00
IGL02896:D5Ertd579e	APN	5	36,613,982 (GRCm38)	missense	possibly damaging	0.70
IGL03141:D5Ertd579e	APN	5	36,613,277 (GRCm38)	missense	possibly damaging	0.94
IGL03235:D5Ertd579e	APN	5	36,618,828 (GRCm38)	splice site	probably benign
R0201:D5Ertd579e	UTSW	5	36,616,465 (GRCm38)	missense	probably damaging	1.00
R0377:D5Ertd579e	UTSW	5	36,604,567 (GRCm38)	missense	probably benign	0.12
R0830:D5Ertd579e	UTSW	5	36,613,757 (GRCm38)	missense	probably damaging	1.00
R0926:D5Ertd579e	UTSW	5	36,672,866 (GRCm38)	missense	probably damaging	1.00
R1350:D5Ertd579e	UTSW	5	36,613,737 (GRCm38)	missense	probably damaging	1.00
R1448:D5Ertd579e	UTSW	5	36,602,739 (GRCm38)	missense	probably benign
R1672:D5Ertd579e	UTSW	5	36,613,277 (GRCm38)	missense	possibly damaging	0.50
R1676:D5Ertd579e	UTSW	5	36,616,109 (GRCm38)	missense	probably benign	0.01
R1693:D5Ertd579e	UTSW	5	36,614,097 (GRCm38)	missense	probably damaging	0.98
R1698:D5Ertd579e	UTSW	5	36,604,530 (GRCm38)	missense	probably benign
R1868:D5Ertd579e	UTSW	5	36,616,427 (GRCm38)	missense	probably damaging	0.99
R1909:D5Ertd579e	UTSW	5	36,614,058 (GRCm38)	missense	probably benign	0.21
R2034:D5Ertd579e	UTSW	5	36,613,538 (GRCm38)	nonsense	probably null
R2080:D5Ertd579e	UTSW	5	36,616,206 (GRCm38)	missense	probably benign	0.01
R2105:D5Ertd579e	UTSW	5	36,613,449 (GRCm38)	missense	probably benign	0.12
R2197:D5Ertd579e	UTSW	5	36,614,793 (GRCm38)	missense	possibly damaging	0.69
R4212:D5Ertd579e	UTSW	5	36,614,479 (GRCm38)	missense	probably damaging	0.99
R4452:D5Ertd579e	UTSW	5	36,616,470 (GRCm38)	missense	probably damaging	1.00
R4626:D5Ertd579e	UTSW	5	36,614,559 (GRCm38)	missense	possibly damaging	0.92
R4804:D5Ertd579e	UTSW	5	36,629,652 (GRCm38)	splice site	probably null
R4898:D5Ertd579e	UTSW	5	36,614,941 (GRCm38)	missense	probably damaging	0.99
R4917:D5Ertd579e	UTSW	5	36,615,816 (GRCm38)	missense	probably damaging	1.00
R4960:D5Ertd579e	UTSW	5	36,616,227 (GRCm38)	nonsense	probably null
R4973:D5Ertd579e	UTSW	5	36,672,905 (GRCm38)	missense	probably benign
R5092:D5Ertd579e	UTSW	5	36,602,703 (GRCm38)	missense	probably benign	0.18
R5474:D5Ertd579e	UTSW	5	36,615,257 (GRCm38)	missense	probably damaging	1.00
R5475:D5Ertd579e	UTSW	5	36,615,257 (GRCm38)	missense	probably damaging	1.00
R5476:D5Ertd579e	UTSW	5	36,615,257 (GRCm38)	missense	probably damaging	1.00
R5477:D5Ertd579e	UTSW	5	36,615,257 (GRCm38)	missense	probably damaging	1.00
R5801:D5Ertd579e	UTSW	5	36,604,569 (GRCm38)	missense	probably damaging	1.00
R6019:D5Ertd579e	UTSW	5	36,629,692 (GRCm38)	missense	possibly damaging	0.90
R6184:D5Ertd579e	UTSW	5	36,629,783 (GRCm38)	missense	probably damaging	0.99
R6213:D5Ertd579e	UTSW	5	36,602,634 (GRCm38)	missense	probably damaging	1.00
R6276:D5Ertd579e	UTSW	5	36,604,514 (GRCm38)	missense	possibly damaging	0.66
R6285:D5Ertd579e	UTSW	5	36,615,577 (GRCm38)	missense	probably damaging	1.00
R6358:D5Ertd579e	UTSW	5	36,616,236 (GRCm38)	splice site	probably null
R6875:D5Ertd579e	UTSW	5	36,604,657 (GRCm38)	splice site	probably null
R6967:D5Ertd579e	UTSW	5	36,615,756 (GRCm38)	missense	probably benign
R7139:D5Ertd579e	UTSW	5	36,613,976 (GRCm38)	missense	probably damaging	1.00
R7329:D5Ertd579e	UTSW	5	36,616,395 (GRCm38)	missense	probably benign	0.21
R7464:D5Ertd579e	UTSW	5	36,613,785 (GRCm38)	missense	probably damaging	0.99
R7664:D5Ertd579e	UTSW	5	36,614,617 (GRCm38)	missense	probably benign	0.00
R7762:D5Ertd579e	UTSW	5	36,613,381 (GRCm38)	missense
R7951:D5Ertd579e	UTSW	5	36,615,173 (GRCm38)	missense	probably benign
R8175:D5Ertd579e	UTSW	5	36,615,470 (GRCm38)	missense	probably damaging	1.00
R8217:D5Ertd579e	UTSW	5	36,614,058 (GRCm38)	missense	probably benign	0.00
R8233:D5Ertd579e	UTSW	5	36,615,244 (GRCm38)	missense	probably damaging	0.99
R8281:D5Ertd579e	UTSW	5	36,613,320 (GRCm38)	missense
R8398:D5Ertd579e	UTSW	5	36,614,277 (GRCm38)	nonsense	probably null
R8673:D5Ertd579e	UTSW	5	36,672,807 (GRCm38)	missense	probably benign	0.03
R8771:D5Ertd579e	UTSW	5	36,604,596 (GRCm38)	missense	probably damaging	1.00
R8853:D5Ertd579e	UTSW	5	36,629,680 (GRCm38)	missense	probably damaging	0.99
R9106:D5Ertd579e	UTSW	5	36,616,338 (GRCm38)	missense	probably benign	0.39
R9121:D5Ertd579e	UTSW	5	36,615,434 (GRCm38)	missense	probably damaging	1.00
R9413:D5Ertd579e	UTSW	5	36,614,934 (GRCm38)	missense	probably damaging	1.00
R9569:D5Ertd579e	UTSW	5	36,602,635 (GRCm38)	missense	probably damaging	0.97
R9715:D5Ertd579e	UTSW	5	36,629,685 (GRCm38)	missense	possibly damaging	0.94
R9723:D5Ertd579e	UTSW	5	36,614,940 (GRCm38)	missense	probably damaging	0.99
RF022:D5Ertd579e	UTSW	5	36,614,662 (GRCm38)	missense	probably damaging	1.00
X0019:D5Ertd579e	UTSW	5	36,613,958 (GRCm38)	missense	probably damaging	1.00
Z1176:D5Ertd579e	UTSW	5	36,615,762 (GRCm38)	missense	probably benign	0.00
Z1189:D5Ertd579e	UTSW	5	36,614,906 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACTTCCCAAGTTGAGTGTTTC -3'
(R):5'- GTGCCTCAGAAACAATGCAAGG -3'

Sequencing Primer
(F):5'- CTTCCCAAGTTGAGTGTTTCAAAAG -3'
(R):5'- TGCAAGGAGAAAGTCGGATTTTG -3'

Posted On

2018-02-28