Mutagenetix > Incidental Mutation

Incidental Mutation 'R7464:D5Ertd579e'

578622

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 #

R7464 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36600485-36696024 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36613785 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 1089 (H1089Y)

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: H1089Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: H1089Y

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: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (79/82)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	C	T	6: 23,077,153	G736R	possibly damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Ankar	A	T	1: 72,698,894	V43E	possibly damaging	Het
Apof	A	G	10: 128,269,636	I220V	probably benign	Het
Asxl1	G	T	2: 153,397,785	A499S	probably benign	Het
Baz2a	T	A	10: 128,122,073	D1069E	possibly damaging	Het
Baz2b	T	C	2: 59,977,448	T156A	possibly damaging	Het
Bbc3	A	T	7: 16,317,157	R169W	unknown	Het
C5ar1	T	A	7: 16,248,766	I110L	probably benign	Het
C87414	C	T	5: 93,636,240	C455Y	probably damaging	Het
Cd19	C	A	7: 126,411,803	R323L	probably damaging	Het
Cdc14b	A	T	13: 64,196,675	C113*	probably null	Het
Cngb1	C	A	8: 95,254,183	W914L	possibly damaging	Het
Colgalt2	A	G	1: 152,504,144	K445E	probably damaging	Het
Crebrf	A	G	17: 26,763,487	M608V	unknown	Het
Csf1	T	A	3: 107,748,875	H280L	probably benign	Het
Cyp2j11	C	A	4: 96,345,120	R113L	probably damaging	Het
Ddx60	C	T	8: 61,940,674	T48M	possibly damaging	Het
Dock10	T	C	1: 80,540,315	D1315G	probably damaging	Het
Dock2	T	G	11: 34,695,278	N526H	probably damaging	Het
Dram2	T	C	3: 106,573,683	*268Q	probably null	Het
Emc8	A	G	8: 120,667,918	Y21H	possibly damaging	Het
Fam162a	A	G	16: 36,071,493	L4P	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fbxw10	T	A	11: 62,853,298	I307N	probably benign	Het
Fbxw16	A	G	9: 109,439,551	V257A	possibly damaging	Het
Fer1l6	T	A	15: 58,573,247		probably null	Het
Galnt7	A	G	8: 57,584,020	Y112H	possibly damaging	Het
Gigyf2	T	C	1: 87,428,604	I803T	unknown	Het
Gm10696	A	T	3: 94,176,104	N133K	probably benign	Het
Gm15292	T	A	8: 21,249,894	S45T	probably damaging	Het
Gm28729	A	G	9: 96,521,235	I44T	possibly damaging	Het
Gm5447	A	G	13: 30,974,394	I34V	not run	Het
H2-M9	A	T	17: 36,642,411		probably null	Het
Helz	G	A	11: 107,636,278	C864Y	probably damaging	Het
Il25	A	G	14: 54,933,222	Y84C	probably null	Het
Itga10	T	A	3: 96,648,155	C142S	probably damaging	Het
Kcna10	A	T	3: 107,194,079	M9L	probably damaging	Het
Klhl6	G	T	16: 19,957,113	Q232K	possibly damaging	Het
Mb21d2	T	G	16: 28,929,546	I40L	possibly damaging	Het
Mdm1	T	C	10: 118,152,266	S334P	probably benign	Het
Mllt10	T	A	2: 18,170,279	D549E	probably benign	Het
Mlxipl	T	C	5: 135,133,628	V648A	probably benign	Het
Nars2	A	G	7: 97,039,930	K353R	probably benign	Het
Nav1	T	A	1: 135,584,909	M138L	probably benign	Het
Neb	T	C	2: 52,193,890	T5635A	probably benign	Het
Nktr	A	C	9: 121,750,327	I1154L	unknown	Het
Olfr1284	T	A	2: 111,379,198	L66Q	probably damaging	Het
Olfr47	T	G	6: 43,236,294	S229A	probably damaging	Het
Olfr761	A	T	17: 37,952,280	V248D	probably damaging	Het
Oxld1	T	C	11: 120,457,137	D78G	probably benign	Het
Pde1b	T	C	15: 103,524,829	I255T	probably benign	Het
Pkp4	T	A	2: 59,308,137	F244I	probably benign	Het
Polg2	C	A	11: 106,773,714	V305L	probably benign	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Sash1	T	C	10: 8,756,745	D242G	possibly damaging	Het
Six4	T	C	12: 73,112,530	T219A	possibly damaging	Het
Slc28a3	A	C	13: 58,563,021	Y562*	probably null	Het
Soat1	A	T	1: 156,439,317	W310R	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691		probably benign	Het
Spef2	T	C	15: 9,740,585	N30D	probably benign	Het
Srebf2	T	A	15: 82,172,874	I270N	probably damaging	Het
St8sia3	T	C	18: 64,271,518	W289R	probably damaging	Het
Stx5a	T	A	19: 8,743,504		probably benign	Het
Tacc1	T	C	8: 25,164,464	D689G	probably damaging	Het
Tacc3	A	G	5: 33,661,284	D21G	probably benign	Het
Tapt1	G	A	5: 44,188,688	R307*	probably null	Het
Tbc1d9b	T	A	11: 50,131,485	V16E	probably damaging	Het
Tchhl1	G	A	3: 93,470,664	R225K	probably benign	Het
Thumpd3	G	A	6: 113,055,769	G156D	probably benign	Het
Tmem178	C	T	17: 80,944,902	P72S	probably benign	Het
Tmem52	C	T	4: 155,469,469	P46S	probably benign	Het
Tmem94	G	T	11: 115,786,256	R118L	possibly damaging	Het
Tulp3	A	T	6: 128,326,829	V269D	probably benign	Het
Ubr1	A	G	2: 120,889,774		probably null	Het
Upf1	G	A	8: 70,333,423	S962L	probably benign	Het
Vcpip1	C	T	1: 9,746,520	R546Q	probably damaging	Het
Vmn2r49	A	C	7: 9,988,893	S151R	probably benign	Het
Wac	T	C	18: 7,871,746		probably null	Het
Wrn	C	T	8: 33,335,996		probably null	Het
Zfp286	C	A	11: 62,780,801	D149Y	probably benign	Het
Zfp748	A	G	13: 67,541,972	C390R	probably damaging	Het
Zfp873	A	G	10: 82,060,376	T314A	possibly damaging	Het
Zfyve1	C	T	12: 83,551,487	D656N	probably benign	Het
Zmym1	T	A	4: 127,058,935	K18*	probably null	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
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
R9569:D5Ertd579e	UTSW	5	36602635	missense	probably damaging	0.97
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'- TCCTCTAAAGGTTTGAGATCTGC -3'
(R):5'- TTGCTAGGAGCCTGCAGTAAC -3'

Sequencing Primer
(F):5'- GGGTCTTCAAATACATCAACTTGGG -3'
(R):5'- CTAGGAGCCTGCAGTAACTTTCAAG -3'

Posted On

2019-10-07