Mutagenetix > Incidental Mutation

Incidental Mutation 'R5477:D5Ertd579e'

434111

Institutional Source

Beutler Lab

Gene Symbol

D5Ertd579e

Ensembl Gene

ENSMUSG00000029190

Gene Name

DNA segment, Chr 5, ERATO Doi 579, expressed

Synonyms

9030221A05Rik, A930018H20Rik

MMRRC Submission

043038-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.317) question?

Stock #

R5477 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36757829-36853368 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 36772601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Tyrosine at position 598 (S598Y)

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: S598Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: S598Y

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

0.0982

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 90.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Aacs	T	C	5: 125,588,984 (GRCm39)	Y421H	probably damaging	Het
Abca13	A	G	11: 9,251,298 (GRCm39)	K2890R	possibly damaging	Het
Aff4	T	A	11: 53,299,299 (GRCm39)		probably null	Het
Brd10	A	G	19: 29,731,518 (GRCm39)	V498A	probably benign	Het
Cntn4	A	T	6: 106,650,911 (GRCm39)	Q698L	possibly damaging	Het
Dmrt1	A	G	19: 25,487,164 (GRCm39)	M157V	probably benign	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Gm10521	T	A	1: 171,724,067 (GRCm39)	M126K	unknown	Het
Hs2st1	A	G	3: 144,262,709 (GRCm39)		probably benign	Het
Lats2	T	C	14: 57,937,010 (GRCm39)	D113G	probably benign	Het
Myo15a	A	C	11: 60,368,503 (GRCm39)	D421A	probably damaging	Het
Or5k15	T	A	16: 58,710,107 (GRCm39)	I159F	probably benign	Het
Or5k17	A	T	16: 58,746,393 (GRCm39)	D180E	possibly damaging	Het
Or6z6	T	C	7: 6,491,570 (GRCm39)	Y94C	probably benign	Het
Pappa2	T	A	1: 158,784,308 (GRCm39)	D234V	probably benign	Het
Parl	G	T	16: 20,098,824 (GRCm39)	T311K	possibly damaging	Het
Pias3	G	A	3: 96,612,319 (GRCm39)	R557H	probably damaging	Het
Pskh1	C	T	8: 106,656,511 (GRCm39)	R396C	probably damaging	Het
Rc3h2	T	C	2: 37,289,642 (GRCm39)	D390G	possibly damaging	Het
Ryr2	G	T	13: 11,720,542 (GRCm39)	P2702Q	probably damaging	Het
Senp6	C	A	9: 80,051,125 (GRCm39)	A961D	probably damaging	Het
Slc27a3	A	G	3: 90,294,146 (GRCm39)	S503P	probably benign	Het
Slc39a12	T	C	2: 14,394,193 (GRCm39)	V21A	possibly damaging	Het
Sox7	A	G	14: 64,185,945 (GRCm39)	Y327C	probably damaging	Het
Spdl1	A	T	11: 34,713,037 (GRCm39)	F288I	possibly damaging	Het
Ssbp2	T	A	13: 91,812,244 (GRCm39)	M127K	probably damaging	Het
Sspo	A	C	6: 48,475,327 (GRCm39)	S5032R	possibly damaging	Het
Sycp1	A	T	3: 102,726,206 (GRCm39)	W973R	probably damaging	Het
Tm4sf5	C	T	11: 70,401,174 (GRCm39)	T130I	probably benign	Het
Top2a	T	A	11: 98,907,306 (GRCm39)	K175*	probably null	Het
Trim30d	T	A	7: 104,121,347 (GRCm39)	Y316F	probably damaging	Het
Vmn1r124	G	A	7: 20,993,653 (GRCm39)	P297L	probably damaging	Het
Zfp715	T	C	7: 42,949,378 (GRCm39)	Y194C	probably damaging	Het

Other mutations in D5Ertd579e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:D5Ertd579e	APN	5	36,776,098 (GRCm39)	missense	probably damaging	0.99
IGL01925:D5Ertd579e	APN	5	36,771,628 (GRCm39)	missense	possibly damaging	0.67
IGL01933:D5Ertd579e	APN	5	36,773,100 (GRCm39)	missense	probably benign
IGL02164:D5Ertd579e	APN	5	36,772,303 (GRCm39)	missense	probably damaging	1.00
IGL02399:D5Ertd579e	APN	5	36,773,529 (GRCm39)	missense	probably damaging	1.00
IGL02896:D5Ertd579e	APN	5	36,771,326 (GRCm39)	missense	possibly damaging	0.70
IGL03141:D5Ertd579e	APN	5	36,770,621 (GRCm39)	missense	possibly damaging	0.94
IGL03235:D5Ertd579e	APN	5	36,776,172 (GRCm39)	splice site	probably benign
R0201:D5Ertd579e	UTSW	5	36,773,809 (GRCm39)	missense	probably damaging	1.00
R0377:D5Ertd579e	UTSW	5	36,761,911 (GRCm39)	missense	probably benign	0.12
R0830:D5Ertd579e	UTSW	5	36,771,101 (GRCm39)	missense	probably damaging	1.00
R0926:D5Ertd579e	UTSW	5	36,830,210 (GRCm39)	missense	probably damaging	1.00
R1350:D5Ertd579e	UTSW	5	36,771,081 (GRCm39)	missense	probably damaging	1.00
R1448:D5Ertd579e	UTSW	5	36,760,083 (GRCm39)	missense	probably benign
R1672:D5Ertd579e	UTSW	5	36,770,621 (GRCm39)	missense	possibly damaging	0.50
R1676:D5Ertd579e	UTSW	5	36,773,453 (GRCm39)	missense	probably benign	0.01
R1693:D5Ertd579e	UTSW	5	36,771,441 (GRCm39)	missense	probably damaging	0.98
R1698:D5Ertd579e	UTSW	5	36,761,874 (GRCm39)	missense	probably benign
R1868:D5Ertd579e	UTSW	5	36,773,771 (GRCm39)	missense	probably damaging	0.99
R1909:D5Ertd579e	UTSW	5	36,771,402 (GRCm39)	missense	probably benign	0.21
R2034:D5Ertd579e	UTSW	5	36,770,882 (GRCm39)	nonsense	probably null
R2080:D5Ertd579e	UTSW	5	36,773,550 (GRCm39)	missense	probably benign	0.01
R2105:D5Ertd579e	UTSW	5	36,770,793 (GRCm39)	missense	probably benign	0.12
R2197:D5Ertd579e	UTSW	5	36,772,137 (GRCm39)	missense	possibly damaging	0.69
R4212:D5Ertd579e	UTSW	5	36,771,823 (GRCm39)	missense	probably damaging	0.99
R4452:D5Ertd579e	UTSW	5	36,773,814 (GRCm39)	missense	probably damaging	1.00
R4626:D5Ertd579e	UTSW	5	36,771,903 (GRCm39)	missense	possibly damaging	0.92
R4804:D5Ertd579e	UTSW	5	36,786,996 (GRCm39)	splice site	probably null
R4898:D5Ertd579e	UTSW	5	36,772,285 (GRCm39)	missense	probably damaging	0.99
R4917:D5Ertd579e	UTSW	5	36,773,160 (GRCm39)	missense	probably damaging	1.00
R4960:D5Ertd579e	UTSW	5	36,773,571 (GRCm39)	nonsense	probably null
R4973:D5Ertd579e	UTSW	5	36,830,249 (GRCm39)	missense	probably benign
R5092:D5Ertd579e	UTSW	5	36,760,047 (GRCm39)	missense	probably benign	0.18
R5474:D5Ertd579e	UTSW	5	36,772,601 (GRCm39)	missense	probably damaging	1.00
R5475:D5Ertd579e	UTSW	5	36,772,601 (GRCm39)	missense	probably damaging	1.00
R5476:D5Ertd579e	UTSW	5	36,772,601 (GRCm39)	missense	probably damaging	1.00
R5801:D5Ertd579e	UTSW	5	36,761,913 (GRCm39)	missense	probably damaging	1.00
R6019:D5Ertd579e	UTSW	5	36,787,036 (GRCm39)	missense	possibly damaging	0.90
R6184:D5Ertd579e	UTSW	5	36,787,127 (GRCm39)	missense	probably damaging	0.99
R6213:D5Ertd579e	UTSW	5	36,759,978 (GRCm39)	missense	probably damaging	1.00
R6244:D5Ertd579e	UTSW	5	36,772,620 (GRCm39)	missense	probably damaging	0.98
R6276:D5Ertd579e	UTSW	5	36,761,858 (GRCm39)	missense	possibly damaging	0.66
R6285:D5Ertd579e	UTSW	5	36,772,921 (GRCm39)	missense	probably damaging	1.00
R6358:D5Ertd579e	UTSW	5	36,773,580 (GRCm39)	splice site	probably null
R6875:D5Ertd579e	UTSW	5	36,762,001 (GRCm39)	splice site	probably null
R6967:D5Ertd579e	UTSW	5	36,773,100 (GRCm39)	missense	probably benign
R7139:D5Ertd579e	UTSW	5	36,771,320 (GRCm39)	missense	probably damaging	1.00
R7329:D5Ertd579e	UTSW	5	36,773,739 (GRCm39)	missense	probably benign	0.21
R7464:D5Ertd579e	UTSW	5	36,771,129 (GRCm39)	missense	probably damaging	0.99
R7664:D5Ertd579e	UTSW	5	36,771,961 (GRCm39)	missense	probably benign	0.00
R7762:D5Ertd579e	UTSW	5	36,770,725 (GRCm39)	missense
R7951:D5Ertd579e	UTSW	5	36,772,517 (GRCm39)	missense	probably benign
R8175:D5Ertd579e	UTSW	5	36,772,814 (GRCm39)	missense	probably damaging	1.00
R8217:D5Ertd579e	UTSW	5	36,771,402 (GRCm39)	missense	probably benign	0.00
R8233:D5Ertd579e	UTSW	5	36,772,588 (GRCm39)	missense	probably damaging	0.99
R8281:D5Ertd579e	UTSW	5	36,770,664 (GRCm39)	missense
R8398:D5Ertd579e	UTSW	5	36,771,621 (GRCm39)	nonsense	probably null
R8673:D5Ertd579e	UTSW	5	36,830,151 (GRCm39)	missense	probably benign	0.03
R8771:D5Ertd579e	UTSW	5	36,761,940 (GRCm39)	missense	probably damaging	1.00
R8853:D5Ertd579e	UTSW	5	36,787,024 (GRCm39)	missense	probably damaging	0.99
R9106:D5Ertd579e	UTSW	5	36,773,682 (GRCm39)	missense	probably benign	0.39
R9121:D5Ertd579e	UTSW	5	36,772,778 (GRCm39)	missense	probably damaging	1.00
R9413:D5Ertd579e	UTSW	5	36,772,278 (GRCm39)	missense	probably damaging	1.00
R9569:D5Ertd579e	UTSW	5	36,759,979 (GRCm39)	missense	probably damaging	0.97
R9715:D5Ertd579e	UTSW	5	36,787,029 (GRCm39)	missense	possibly damaging	0.94
R9723:D5Ertd579e	UTSW	5	36,772,284 (GRCm39)	missense	probably damaging	0.99
RF022:D5Ertd579e	UTSW	5	36,772,006 (GRCm39)	missense	probably damaging	1.00
X0019:D5Ertd579e	UTSW	5	36,771,302 (GRCm39)	missense	probably damaging	1.00
Z1176:D5Ertd579e	UTSW	5	36,773,106 (GRCm39)	missense	probably benign	0.00
Z1189:D5Ertd579e	UTSW	5	36,772,250 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTCACTTCCCAAGTTGAGTG -3'
(R):5'- TGCCTCAGAAACAATGCAAGG -3'

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

Posted On

2016-10-06