Mutagenetix > Incidental Mutation

Incidental Mutation 'R9569:D5Ertd579e'

721831

Institutional Source

Beutler Lab

Gene Symbol

D5Ertd579e

Ensembl Gene

ENSMUSG00000029190

Gene Name

DNA segment, Chr 5, ERATO Doi 579, expressed

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.266) question?

Stock #

R9569 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36600485-36696024 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36602635 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1394 (T1394A)

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: T1394A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: T1394A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	G	C	4: 42,971,740	V358L	probably benign	Het
4932438A13Rik	T	C	3: 37,012,621	M211T		Het
Abi2	T	A	1: 60,464,604	V356D	probably damaging	Het
Adgrd1	T	C	5: 129,179,637	V690A	possibly damaging	Het
Apba2	T	C	7: 64,743,390	M553T	possibly damaging	Het
Apeh	C	T	9: 108,094,410	V13M	unknown	Het
Apol11b	C	T	15: 77,640,571	E5K	possibly damaging	Het
Apol7e	C	T	15: 77,717,733	T177I	probably damaging	Het
Bub1b	T	C	2: 118,638,403	I883T	probably damaging	Het
C9	T	C	15: 6,459,581	S140P	probably damaging	Het
Cbfa2t2	T	A	2: 154,504,565	I64N	probably benign	Het
Cd180	A	T	13: 102,705,978	I511F	possibly damaging	Het
Cic	T	C	7: 25,272,695	V617A	possibly damaging	Het
Clca3a2	A	C	3: 144,807,314		probably null	Het
Dclk1	A	T	3: 55,480,431	E422D	probably benign	Het
Depdc5	A	T	5: 32,867,977	D21V	probably damaging	Het
Dis3l	A	G	9: 64,329,547	F40S	unknown	Het
Duox1	T	C	2: 122,318,490	V82A	probably benign	Het
Dus2	T	C	8: 106,044,875	V211A	probably damaging	Het
Eif2ak4	G	A	2: 118,420,835	S326N	probably benign	Het
Fat3	A	C	9: 15,919,199	L153R		Het
Gpx8	C	T	13: 113,045,591	V103I	probably damaging	Het
Gtf2a1l	A	G	17: 88,694,520	D268G	probably benign	Het
Hc	T	C	2: 35,036,347	I342V	probably benign	Het
Hsp90ab1	T	A	17: 45,568,952	D546V	possibly damaging	Het
Ifi206	T	G	1: 173,486,643	D77A		Het
Igfbp1	A	G	11: 7,197,881		probably benign	Het
Kdm3a	T	C	6: 71,607,450	D559G	probably benign	Het
Kif2a	A	G	13: 106,968,738	I565T	probably benign	Het
Krt2	T	C	15: 101,816,489	T229A	probably damaging	Het
Lcmt2	G	A	2: 121,140,041	A187V	probably damaging	Het
Mapk8ip1	A	G	2: 92,387,254	M241T	probably benign	Het
Mup15	T	C	4: 61,439,638		probably benign	Het
Myo9b	T	C	8: 71,358,985	V1912A	probably benign	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Naip5	T	C	13: 100,223,313	T472A	probably benign	Het
Net1	A	G	13: 3,888,518	F123S	probably benign	Het
Olfr183	A	G	16: 58,999,865	Y60C	probably damaging	Het
Olfr335-ps	T	C	2: 36,301,934	Y132H	probably damaging	Het
Olfr666	C	T	7: 104,893,318	M103I	possibly damaging	Het
Pcdhb13	T	C	18: 37,443,100	F177S	probably damaging	Het
Pclo	T	C	5: 14,857,051		probably null	Het
Perm1	A	G	4: 156,218,582	T528A	probably benign	Het
Pik3c2a	C	T	7: 116,358,704	A1116T	possibly damaging	Het
Prox2	G	A	12: 85,094,992	Q146*	probably null	Het
Psd	A	T	19: 46,320,278	C639S	possibly damaging	Het
Rffl	T	A	11: 82,812,438	T220S	probably benign	Het
Scn2a	A	G	2: 65,730,278	D1284G	probably damaging	Het
Scube1	T	C	15: 83,629,404	Y385C	probably damaging	Het
Sec14l3	A	T	11: 4,076,324	D388V	probably damaging	Het
Slc26a1	G	T	5: 108,671,594	Q596K	probably benign	Het
Slc6a19	T	C	13: 73,685,911	T343A	probably benign	Het
Slc7a4	A	G	16: 17,575,398	V179A		Het
Sox14	T	G	9: 99,875,509	D49A		Het
Timm22	A	G	11: 76,407,370	S56G	probably benign	Het
Tmub2	G	A	11: 102,288,327	W322*	probably null	Het
Tsc22d4	A	G	5: 137,758,166	T8A	probably benign	Het
Ttn	T	C	2: 76,709,308	I34445V	probably benign	Het
Tyms	A	T	5: 30,063,362	Y196*	probably null	Het
Ube2o	G	A	11: 116,543,997	T546M	probably damaging	Het
Umodl1	A	G	17: 30,998,169	Y1125C	probably damaging	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312		probably benign	Het
Unk	A	T	11: 116,059,209	Q747L	probably damaging	Het
Vmn1r170	A	G	7: 23,606,869	E232G	probably benign	Het
Vps41	A	G	13: 18,829,226	Y338C	possibly damaging	Het
Washc5	T	C	15: 59,344,131	M800V	probably benign	Het
Wt1	T	A	2: 105,163,366	I348N	possibly damaging	Het
Xirp2	A	G	2: 67,510,898	Y1161C	probably damaging	Het
Xpo7	A	G	14: 70,668,700	M1001T	possibly damaging	Het
Yeats2	A	T	16: 20,154,152	R19W	probably damaging	Het
Zfp142	T	C	1: 74,576,227	T476A	probably damaging	Het
Zfp229	T	C	17: 21,745,592	W268R	possibly damaging	Het
Zfp473	A	G	7: 44,739,547	F50S	probably damaging	Het
Zfp975	A	T	7: 42,661,989	M400K	probably benign	Het
Zkscan5	A	G	5: 145,207,609	M150V	probably benign	Het
Znfx1	T	A	2: 167,055,955	I350F		Het

Other mutations in D5Ertd579e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:D5Ertd579e	APN	5	36618754	missense	probably damaging	0.99
IGL01925:D5Ertd579e	APN	5	36614284	missense	possibly damaging	0.67
IGL01933:D5Ertd579e	APN	5	36615756	missense	probably benign
IGL02164:D5Ertd579e	APN	5	36614959	missense	probably damaging	1.00
IGL02399:D5Ertd579e	APN	5	36616185	missense	probably damaging	1.00
IGL02896:D5Ertd579e	APN	5	36613982	missense	possibly damaging	0.70
IGL03141:D5Ertd579e	APN	5	36613277	missense	possibly damaging	0.94
IGL03235:D5Ertd579e	APN	5	36618828	splice site	probably benign
R0201:D5Ertd579e	UTSW	5	36616465	missense	probably damaging	1.00
R0377:D5Ertd579e	UTSW	5	36604567	missense	probably benign	0.12
R0830:D5Ertd579e	UTSW	5	36613757	missense	probably damaging	1.00
R0926:D5Ertd579e	UTSW	5	36672866	missense	probably damaging	1.00
R1350:D5Ertd579e	UTSW	5	36613737	missense	probably damaging	1.00
R1448:D5Ertd579e	UTSW	5	36602739	missense	probably benign
R1672:D5Ertd579e	UTSW	5	36613277	missense	possibly damaging	0.50
R1676:D5Ertd579e	UTSW	5	36616109	missense	probably benign	0.01
R1693:D5Ertd579e	UTSW	5	36614097	missense	probably damaging	0.98
R1698:D5Ertd579e	UTSW	5	36604530	missense	probably benign
R1868:D5Ertd579e	UTSW	5	36616427	missense	probably damaging	0.99
R1909:D5Ertd579e	UTSW	5	36614058	missense	probably benign	0.21
R2034:D5Ertd579e	UTSW	5	36613538	nonsense	probably null
R2080:D5Ertd579e	UTSW	5	36616206	missense	probably benign	0.01
R2105:D5Ertd579e	UTSW	5	36613449	missense	probably benign	0.12
R2197:D5Ertd579e	UTSW	5	36614793	missense	possibly damaging	0.69
R4212:D5Ertd579e	UTSW	5	36614479	missense	probably damaging	0.99
R4452:D5Ertd579e	UTSW	5	36616470	missense	probably damaging	1.00
R4626:D5Ertd579e	UTSW	5	36614559	missense	possibly damaging	0.92
R4804:D5Ertd579e	UTSW	5	36629652	splice site	probably null
R4898:D5Ertd579e	UTSW	5	36614941	missense	probably damaging	0.99
R4917:D5Ertd579e	UTSW	5	36615816	missense	probably damaging	1.00
R4960:D5Ertd579e	UTSW	5	36616227	nonsense	probably null
R4973:D5Ertd579e	UTSW	5	36672905	missense	probably benign
R5092:D5Ertd579e	UTSW	5	36602703	missense	probably benign	0.18
R5474:D5Ertd579e	UTSW	5	36615257	missense	probably damaging	1.00
R5475:D5Ertd579e	UTSW	5	36615257	missense	probably damaging	1.00
R5476:D5Ertd579e	UTSW	5	36615257	missense	probably damaging	1.00
R5477:D5Ertd579e	UTSW	5	36615257	missense	probably damaging	1.00
R5801:D5Ertd579e	UTSW	5	36604569	missense	probably damaging	1.00
R6019:D5Ertd579e	UTSW	5	36629692	missense	possibly damaging	0.90
R6184:D5Ertd579e	UTSW	5	36629783	missense	probably damaging	0.99
R6213:D5Ertd579e	UTSW	5	36602634	missense	probably damaging	1.00
R6244:D5Ertd579e	UTSW	5	36615276	missense	probably damaging	0.98
R6276:D5Ertd579e	UTSW	5	36604514	missense	possibly damaging	0.66
R6285:D5Ertd579e	UTSW	5	36615577	missense	probably damaging	1.00
R6358:D5Ertd579e	UTSW	5	36616236	splice site	probably null
R6875:D5Ertd579e	UTSW	5	36604657	splice site	probably null
R6967:D5Ertd579e	UTSW	5	36615756	missense	probably benign
R7139:D5Ertd579e	UTSW	5	36613976	missense	probably damaging	1.00
R7329:D5Ertd579e	UTSW	5	36616395	missense	probably benign	0.21
R7464:D5Ertd579e	UTSW	5	36613785	missense	probably damaging	0.99
R7664:D5Ertd579e	UTSW	5	36614617	missense	probably benign	0.00
R7762:D5Ertd579e	UTSW	5	36613381	missense
R7951:D5Ertd579e	UTSW	5	36615173	missense	probably benign
R8175:D5Ertd579e	UTSW	5	36615470	missense	probably damaging	1.00
R8217:D5Ertd579e	UTSW	5	36614058	missense	probably benign	0.00
R8233:D5Ertd579e	UTSW	5	36615244	missense	probably damaging	0.99
R8281:D5Ertd579e	UTSW	5	36613320	missense
R8398:D5Ertd579e	UTSW	5	36614277	nonsense	probably null
R8673:D5Ertd579e	UTSW	5	36672807	missense	probably benign	0.03
R8771:D5Ertd579e	UTSW	5	36604596	missense	probably damaging	1.00
R8853:D5Ertd579e	UTSW	5	36629680	missense	probably damaging	0.99
R9106:D5Ertd579e	UTSW	5	36616338	missense	probably benign	0.39
R9121:D5Ertd579e	UTSW	5	36615434	missense	probably damaging	1.00
R9413:D5Ertd579e	UTSW	5	36614934	missense	probably damaging	1.00
R9715:D5Ertd579e	UTSW	5	36629685	missense	possibly damaging	0.94
R9723:D5Ertd579e	UTSW	5	36614940	missense	probably damaging	0.99
RF022:D5Ertd579e	UTSW	5	36614662	missense	probably damaging	1.00
X0019:D5Ertd579e	UTSW	5	36613958	missense	probably damaging	1.00
Z1176:D5Ertd579e	UTSW	5	36615762	missense	probably benign	0.00
Z1189:D5Ertd579e	UTSW	5	36614906	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATCTTCAACAGGACAGCCG -3'
(R):5'- TCATCTGTCTATGAATAGGATCAGC -3'

Sequencing Primer
(F):5'- GTCCTCAACGCTAAAATAAGCAAG -3'
(R):5'- AAATTGTTTCTTGAATTGTAGGTGTC -3'

Posted On

2022-08-09