Mutagenetix > Incidental Mutations

Incidental Mutation 'R4778:0610037L13Rik'

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368076

Institutional Source

Beutler Lab

Gene Symbol

0610037L13Rik

Ensembl Gene

ENSMUSG00000028608

Gene Name

RIKEN cDNA 0610037L13 gene

Synonyms

MMRRC Submission

042414-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R4778 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107889813-107899384 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107891998 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 64 (V64A)

Ref Sequence

ENSEMBL: ENSMUSP00000114234 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030348] [ENSMUST00000106726] [ENSMUST00000106727] [ENSMUST00000119394] [ENSMUST00000120473] [ENSMUST00000125107] [ENSMUST00000128474] [ENSMUST00000132417] [ENSMUST00000134254] [ENSMUST00000135454]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000030346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000030347

Predicted Effect

probably benign
Transcript: ENSMUST00000030348

SMART Domains

Protein: ENSMUSP00000030348
Gene: ENSMUSG00000028609

Domain	Start	End	E-Value	Type
Pfam:Mago_nashi	5	146	7.5e-84	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106726
AA Change: V64A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102337
Gene: ENSMUSG00000028608
AA Change: V64A

Domain	Start	End	E-Value	Type
Pfam:DUF866	1	114	1.9e-53	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106727
AA Change: V64A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102338
Gene: ENSMUSG00000028608
AA Change: V64A

Domain	Start	End	E-Value	Type
Pfam:DUF866	1	154	1.2e-62	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119394
AA Change: V64A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113991
Gene: ENSMUSG00000028608
AA Change: V64A

Domain	Start	End	E-Value	Type
Pfam:DUF866	1	146	8.1e-63	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000120473
AA Change: V64A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113866
Gene: ENSMUSG00000028608
AA Change: V64A

Domain	Start	End	E-Value	Type
Pfam:DUF866	1	138	2.7e-62	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000125107
AA Change: V100A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119565
Gene: ENSMUSG00000028608
AA Change: V100A

Domain	Start	End	E-Value	Type
Pfam:DUF866	40	194	2.2e-61	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127715

Predicted Effect

probably damaging
Transcript: ENSMUST00000128474
AA Change: V65A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115797
Gene: ENSMUSG00000028608
AA Change: V65A

Domain	Start	End	E-Value	Type
Pfam:DUF866	2	66	4.2e-27	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000132417

SMART Domains

Protein: ENSMUSP00000117717
Gene: ENSMUSG00000028608

Domain	Start	End	E-Value	Type
Pfam:DUF866	37	98	1.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134254

SMART Domains

Protein: ENSMUSP00000119309
Gene: ENSMUSG00000028608

Domain	Start	End	E-Value	Type
Pfam:DUF866	1	46	3e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000135454
AA Change: V64A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114234
Gene: ENSMUSG00000028608
AA Change: V64A

Domain	Start	End	E-Value	Type
Pfam:DUF866	1	160	1.7e-74	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153593

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141376

Meta Mutation Damage Score

0.8479

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 36,937,065	M897K	possibly damaging	Het
Abcc10	T	C	17: 46,304,416	N1349S	probably damaging	Het
AF529169	T	A	9: 89,603,102	I81F	probably damaging	Het
Ahnak	T	C	19: 9,011,975	V3541A	possibly damaging	Het
Arhgap33	T	A	7: 30,532,093	T156S	probably benign	Het
Card11	G	T	5: 140,883,782		probably null	Het
Cdh3	T	A	8: 106,543,826	I445N	probably damaging	Het
Csrp3	T	G	7: 48,832,563	K169N	probably damaging	Het
Cyp2c69	T	C	19: 39,877,594	N185S	probably benign	Het
Dpysl3	C	T	18: 43,354,802	V159I	probably benign	Het
Erc1	A	T	6: 119,797,337		probably null	Het
Fat1	T	C	8: 45,038,326	V3808A	probably benign	Het
Fbxw19	T	C	9: 109,494,646	D87G	probably damaging	Het
Gm1123	T	C	9: 99,018,507	I99V	probably benign	Het
Gm11677	C	T	11: 111,724,711		noncoding transcript	Het
Gm5045	T	A	15: 59,211,403		noncoding transcript	Het
Hand1	T	C	11: 57,831,623	D55G	possibly damaging	Het
Lrguk	T	A	6: 34,056,080	I227K	probably damaging	Het
Mdn1	C	T	4: 32,683,583	R726*	probably null	Het
Myo16	T	A	8: 10,569,694	V1415E	probably damaging	Het
Myof	T	C	19: 37,949,563	D901G	probably damaging	Het
Naip1	A	G	13: 100,426,648	Y670H	probably damaging	Het
Nmd3	T	A	3: 69,731,591	Y171*	probably null	Het
Notch4	C	T	17: 34,582,511	A1111V	possibly damaging	Het
Nphp4	T	A	4: 152,556,291	D1038E	probably benign	Het
Olfr484	A	T	7: 108,124,480	I261N	possibly damaging	Het
Olfr694	A	C	7: 106,689,667	S21R	probably damaging	Het
Osbpl10	C	T	9: 115,109,530	S86L	probably damaging	Het
Pcsk6	G	A	7: 65,959,145	G252R	probably damaging	Het
Pole	T	G	5: 110,330,832	H15Q	probably benign	Het
Pstpip1	A	G	9: 56,128,620	D383G	possibly damaging	Het
Ptprq	T	C	10: 107,591,022	T1551A	probably benign	Het
Rasgrf2	A	G	13: 91,983,661	F626L	probably damaging	Het
Retreg1	C	A	15: 25,971,785	N394K	possibly damaging	Het
Rpp14	T	A	14: 8,090,203	D42E	probably benign	Het
Rrp8	T	A	7: 105,737,274		probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Snx1	T	C	9: 66,101,416		probably benign	Het
Stau1	A	T	2: 166,963,522	N51K	probably benign	Het
Tdrd5	T	A	1: 156,255,587	D960V	probably damaging	Het
Tex10	T	C	4: 48,436,468	D750G	probably damaging	Het
Tmem43	T	C	6: 91,482,255	V236A	probably damaging	Het
Tmem89	T	C	9: 108,915,375	V112A	probably damaging	Het
Traf7	C	G	17: 24,510,438		probably benign	Het
Vmn1r41	A	C	6: 89,747,275	K266T	probably damaging	Het
Vmn2r65	T	C	7: 84,943,593	K469E	possibly damaging	Het
Zfp831	A	G	2: 174,646,807	T1092A	possibly damaging	Het
Zfp981	T	A	4: 146,537,655	S346T	probably benign	Het

Other mutations in 0610037L13Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02043:0610037L13Rik	APN	4	107894868	splice site	probably benign
horribilis	UTSW	4	107891998	missense	probably damaging	1.00
R0787:0610037L13Rik	UTSW	4	107890129	missense	probably damaging	1.00
R3500:0610037L13Rik	UTSW	4	107891513	missense	probably damaging	1.00
R5940:0610037L13Rik	UTSW	4	107893288	intron	probably benign
R6644:0610037L13Rik	UTSW	4	107894922	missense	probably damaging	0.99
R7164:0610037L13Rik	UTSW	4	107894890	missense	not run
R7535:0610037L13Rik	UTSW	4	107894900	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- TTCTCAACCAGGGGAAGACTC -3'
(R):5'- GACTTGAATCTCTACCCAGACTCC -3'

Sequencing Primer
(F):5'- ACTGAGCATGCTCTACTACTGAG -3'
(R):5'- TCTACCCAGACTCCACTCAGGTG -3'

Posted On

2015-12-29