Mutagenetix > Incidental Mutation

Incidental Mutation 'R5092:D5Ertd579e'

387811

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

042681-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.307) question?

Stock #

R5092 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36757829-36853368 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36760047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 1371 (T1371M)

Ref Sequence

ENSEMBL: ENSMUSP00000031091 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031091
AA Change: T1371M

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: T1371M

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: ENSMUST00000174019

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	T	7: 40,637,091 (GRCm39)		probably benign	Het
Abca13	T	A	11: 9,208,535 (GRCm39)	L236Q	probably damaging	Het
Acp2	A	T	2: 91,038,391 (GRCm39)	T255S	probably benign	Het
Acsf3	A	C	8: 123,544,131 (GRCm39)	R536S	probably benign	Het
Adgrb1	T	G	15: 74,401,664 (GRCm39)	V220G	probably benign	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Atp5f1b	A	G	10: 127,919,854 (GRCm39)	Q74R	probably benign	Het
Bltp1	A	T	3: 37,054,234 (GRCm39)	M3118L	probably benign	Het
Brf1	G	A	12: 112,943,352 (GRCm39)	T166M	probably damaging	Het
Capn9	A	G	8: 125,324,264 (GRCm39)	K188R	probably damaging	Het
Casp8	A	T	1: 58,883,835 (GRCm39)	N381Y	possibly damaging	Het
Ccdc88b	A	G	19: 6,825,600 (GRCm39)	S1218P	probably damaging	Het
Cdc42bpg	C	T	19: 6,363,250 (GRCm39)	P403S	probably benign	Het
Cdkal1	T	A	13: 30,030,222 (GRCm39)	Y91F	probably damaging	Het
Cdyl2	T	C	8: 117,350,679 (GRCm39)	N151D	possibly damaging	Het
Cnot1	T	A	8: 96,479,396 (GRCm39)	R875S	possibly damaging	Het
Cpd	A	G	11: 76,702,530 (GRCm39)	S613P	possibly damaging	Het
Cyp2e1	G	T	7: 140,354,648 (GRCm39)	R492L	probably damaging	Het
Dcaf8	A	G	1: 172,014,476 (GRCm39)	T394A	probably benign	Het
Dgka	T	C	10: 128,571,702 (GRCm39)	E117G	probably damaging	Het
Dock4	G	A	12: 40,894,440 (GRCm39)	V1867I	probably benign	Het
E2f2	G	T	4: 135,914,248 (GRCm39)	A333S	probably benign	Het
Eif3l	T	C	15: 78,968,354 (GRCm39)	S208P	probably benign	Het
Elovl3	A	T	19: 46,122,961 (GRCm39)	H179L	probably damaging	Het
Eml5	T	C	12: 98,758,875 (GRCm39)	D1766G	probably damaging	Het
Eno4	A	G	19: 58,934,023 (GRCm39)	T75A	probably benign	Het
Fam135a	C	T	1: 24,067,888 (GRCm39)	D94N	probably benign	Het
Fasn	G	T	11: 120,705,862 (GRCm39)	Q1136K	probably benign	Het
Fcer1a	T	G	1: 173,053,022 (GRCm39)	N58T	probably damaging	Het
Frmd4b	T	A	6: 97,272,941 (GRCm39)	D763V	probably damaging	Het
Gm43518	A	G	5: 124,076,297 (GRCm39)	T115A	probably damaging	Het
Gria4	C	T	9: 4,472,176 (GRCm39)	E438K	probably benign	Het
Grin2d	T	C	7: 45,503,692 (GRCm39)	E681G	probably damaging	Het
Gtf3c5	G	T	2: 28,472,885 (GRCm39)	N35K	possibly damaging	Het
Hydin	A	G	8: 111,309,300 (GRCm39)	T4031A	probably benign	Het
Igfn1	G	T	1: 135,892,564 (GRCm39)	N2185K	probably benign	Het
Il17rb	T	C	14: 29,724,333 (GRCm39)	T174A	probably benign	Het
Kdm3b	T	A	18: 34,946,515 (GRCm39)	C835S	probably benign	Het
Lgi2	A	T	5: 52,695,429 (GRCm39)	I510N	probably damaging	Het
Map3k6	A	G	4: 132,979,054 (GRCm39)	E1164G	probably benign	Het
Mpv17l	T	A	16: 13,758,537 (GRCm39)	M1K	probably null	Het
Myoc	T	A	1: 162,467,203 (GRCm39)	L124Q	probably damaging	Het
Nbeal2	C	A	9: 110,455,796 (GRCm39)		probably null	Het
Nek10	A	G	14: 14,820,851 (GRCm38)	K13E	possibly damaging	Het
Nt5dc2	A	G	14: 30,860,989 (GRCm39)	H491R	possibly damaging	Het
Or4f61	A	C	2: 111,922,452 (GRCm39)	M198R	possibly damaging	Het
Or51b6	T	A	7: 103,556,406 (GRCm39)	Y250*	probably null	Het
Or8k21	T	C	2: 86,144,706 (GRCm39)	Q308R	probably benign	Het
Pclo	T	A	5: 14,727,322 (GRCm39)		probably benign	Het
Pgm2	A	T	5: 64,265,092 (GRCm39)	N371I	possibly damaging	Het
Phf20l1	T	A	15: 66,508,762 (GRCm39)	S873T	possibly damaging	Het
Plch1	T	C	3: 63,606,131 (GRCm39)	T1249A	probably benign	Het
Plekhn1	A	T	4: 156,309,222 (GRCm39)	I228N	possibly damaging	Het
Ppp1r12a	A	T	10: 108,103,263 (GRCm39)		probably null	Het
Ptchd3	T	C	11: 121,721,972 (GRCm39)	Y282H	probably damaging	Het
Ptprk	T	A	10: 28,468,769 (GRCm39)	N1396K	probably damaging	Het
Rap1gap2	T	C	11: 74,329,121 (GRCm39)	E81G	probably damaging	Het
Rpf2	T	C	10: 40,122,971 (GRCm39)	M1V	probably null	Het
Rpgrip1l	G	A	8: 91,948,012 (GRCm39)	Q1224*	probably null	Het
Rreb1	A	G	13: 38,112,254 (GRCm39)	D286G	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Senp5	A	T	16: 31,807,960 (GRCm39)	N431K	probably benign	Het
Serpina1f	A	C	12: 103,659,809 (GRCm39)	S158A	probably damaging	Het
Sertad3	T	A	7: 27,176,145 (GRCm39)	I193N	probably damaging	Het
Slc22a8	T	A	19: 8,571,528 (GRCm39)	N86K	probably damaging	Het
Slc6a2	T	C	8: 93,721,347 (GRCm39)	V492A	possibly damaging	Het
Slf2	T	A	19: 44,940,523 (GRCm39)	D773E	probably benign	Het
Slmap	A	C	14: 26,184,744 (GRCm39)	L272R	probably damaging	Het
Smyd5	T	C	6: 85,422,185 (GRCm39)		probably benign	Het
Snx21	G	T	2: 164,628,666 (GRCm39)	R103L	probably damaging	Het
Sphk2	T	A	7: 45,361,777 (GRCm39)		probably null	Het
Stab1	T	C	14: 30,867,812 (GRCm39)	K1653E	probably benign	Het
Syde1	A	G	10: 78,425,252 (GRCm39)	V253A	probably benign	Het
Sympk	G	T	7: 18,776,584 (GRCm39)	R492L	probably benign	Het
Taar7f	T	C	10: 23,925,451 (GRCm39)	I15T	probably benign	Het
Tas2r140	A	G	6: 40,468,200 (GRCm39)	D10G	probably benign	Het
Tbcc	A	G	17: 47,202,600 (GRCm39)	S329G	probably benign	Het
Teddm3	G	A	16: 20,971,900 (GRCm39)	T223M	probably benign	Het
Tex14	G	T	11: 87,405,668 (GRCm39)	C860F	probably benign	Het
Thada	A	T	17: 84,751,896 (GRCm39)	L360Q	probably damaging	Het
Thop1	C	A	10: 80,916,412 (GRCm39)	H473Q	probably damaging	Het
Tln2	T	C	9: 67,163,310 (GRCm39)	D1075G	probably benign	Het
Tmem130	G	A	5: 144,680,528 (GRCm39)	T292I	probably benign	Het
Tmem198b	T	C	10: 128,637,305 (GRCm39)	N278S	probably benign	Het
Ttc21a	A	T	9: 119,771,731 (GRCm39)	T177S	probably benign	Het
Ubr2	A	T	17: 47,280,173 (GRCm39)	C659S	probably damaging	Het
Vmn2r4	T	C	3: 64,298,373 (GRCm39)	K585R	probably benign	Het
Vmn2r86	A	G	10: 130,282,456 (GRCm39)	I720T	probably damaging	Het
Wdr35	G	T	12: 9,037,327 (GRCm39)	W311L	probably damaging	Het
Zfp39	A	T	11: 58,782,028 (GRCm39)	F245I	possibly damaging	Het
Zftraf1	A	T	15: 76,530,512 (GRCm39)	F269L	probably benign	Het
Zmym5	G	A	14: 57,034,236 (GRCm39)	T325I	probably benign	Het
Zng1	A	T	19: 24,898,383 (GRCm39)		probably null	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
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
R5477: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'- GAAACCTAAGTTGCTGCTTTAGAC -3'
(R):5'- GAGATGCCTCTGAAACAGTGCG -3'

Sequencing Primer
(F):5'- GCTGCTTTAGACTAACAGGCC -3'
(R):5'- TCTGAAACAGTGCGACTTCACG -3'

Posted On

2016-06-06