Mutagenetix > Incidental Mutation

Incidental Mutation 'R6657:4933405L10Rik'

526668

Institutional Source

Beutler Lab

Gene Symbol

4933405L10Rik

Ensembl Gene

ENSMUSG00000013158

Gene Name

RIKEN cDNA 4933405L10 gene

Synonyms

MMRRC Submission

044778-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R6657 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106434921-106436877 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 106435450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 36 (L36R)

Ref Sequence

ENSEMBL: ENSMUSP00000148838 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013299] [ENSMUST00000013302] [ENSMUST00000211852] [ENSMUST00000212061]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000013299

SMART Domains

Protein: ENSMUSP00000013299
Gene: ENSMUSG00000013155

Domain	Start	End	E-Value	Type
low complexity region	220	236	N/A	INTRINSIC
Pfam:Enkurin	243	339	6.3e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000013302
AA Change: L36R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000013302
Gene: ENSMUSG00000013158
AA Change: L36R

Domain	Start	End	E-Value	Type
Pfam:DUF4691	1	162	3.3e-71	PFAM
low complexity region	200	216	N/A	INTRINSIC
low complexity region	252	275	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000211852
AA Change: L36R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000212061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212716

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.0%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Akr1b7	A	C	6: 34,393,135 (GRCm39)	D106A	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Chst5	C	T	8: 112,616,906 (GRCm39)	R238Q	probably benign	Het
Cpxm2	T	C	7: 131,650,806 (GRCm39)	Y618C	probably damaging	Het
Csnk1d	T	C	11: 120,855,820 (GRCm39)	E405G	possibly damaging	Het
Ctsh	A	T	9: 89,942,555 (GRCm39)	M37L	probably benign	Het
Eml5	T	G	12: 98,757,664 (GRCm39)	I1843L	probably damaging	Het
Ep400	C	A	5: 110,841,411 (GRCm39)		probably benign	Het
Fbln2	A	G	6: 91,236,732 (GRCm39)	N749S	possibly damaging	Het
Gpc5	A	G	14: 115,607,610 (GRCm39)	H404R	probably benign	Het
Hyal6	A	G	6: 24,734,757 (GRCm39)	D230G	possibly damaging	Het
Itga5	T	C	15: 103,259,222 (GRCm39)	D735G	probably damaging	Het
Kansl2	T	A	15: 98,422,551 (GRCm39)	Q339L	possibly damaging	Het
Lrp4	T	A	2: 91,322,398 (GRCm39)	M1078K	probably benign	Het
Mmp24	A	T	2: 155,640,099 (GRCm39)	Y143F	probably damaging	Het
Mroh7	A	T	4: 106,559,697 (GRCm39)	C743*	probably null	Het
Myh14	T	C	7: 44,287,270 (GRCm39)	N618D	probably damaging	Het
Myo19	A	T	11: 84,788,022 (GRCm39)	M324L	probably benign	Het
Nectin2	T	C	7: 19,472,065 (GRCm39)	N108S	probably benign	Het
Nrg2	A	G	18: 36,329,642 (GRCm39)	I191T	probably damaging	Het
Odf4	T	C	11: 68,817,638 (GRCm39)	N18D	probably benign	Het
Or5aq6	T	A	2: 86,923,403 (GRCm39)	I113F	probably benign	Het
Pcsk2	T	G	2: 143,532,286 (GRCm39)	L145V	probably damaging	Het
Pdzrn3	C	A	6: 101,127,983 (GRCm39)	Q894H	probably benign	Het
Pfpl	G	A	19: 12,407,290 (GRCm39)	V514I	probably benign	Het
Plbd1	A	T	6: 136,594,250 (GRCm39)	M333K	probably damaging	Het
Plec	A	T	15: 76,062,356 (GRCm39)	M2554K	possibly damaging	Het
Psmb5	A	G	14: 54,851,840 (GRCm39)	Y115H	possibly damaging	Het
Rictor	A	G	15: 6,788,977 (GRCm39)	N198D	possibly damaging	Het
Rsrc2	A	G	5: 123,877,630 (GRCm39)		probably benign	Het
Sec16a	C	T	2: 26,315,876 (GRCm39)	W262*	probably null	Het
Sfmbt1	A	G	14: 30,488,053 (GRCm39)	D8G	possibly damaging	Het
Sptbn5	T	G	2: 119,906,881 (GRCm39)		probably benign	Het
Sqor	A	G	2: 122,649,514 (GRCm39)	D139G	possibly damaging	Het
Sugt1	A	T	14: 79,844,701 (GRCm39)	T139S	probably benign	Het
Tcp11	G	A	17: 28,290,646 (GRCm39)	P159S	probably damaging	Het
Tmem262	A	G	19: 6,130,542 (GRCm39)	T89A	possibly damaging	Het
Tnfaip6	C	A	2: 51,933,795 (GRCm39)	T50N	probably damaging	Het
Ttll9	T	C	2: 152,826,182 (GRCm39)	Y131H	probably damaging	Het
Vmn1r173	T	A	7: 23,402,320 (GRCm39)	M185K	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r52	G	A	7: 9,893,090 (GRCm39)	T683I	probably damaging	Het
Vps53	A	T	11: 76,025,253 (GRCm39)	I197N	probably damaging	Het
Washc4	T	A	10: 83,394,482 (GRCm39)	F269L	possibly damaging	Het
Wdfy4	C	T	14: 32,769,208 (GRCm39)	V2086M	possibly damaging	Het
Zfp592	A	T	7: 80,675,234 (GRCm39)	T733S	possibly damaging	Het
Zfp599	A	G	9: 22,161,538 (GRCm39)	F209S	probably damaging	Het

Other mutations in 4933405L10Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01738:4933405L10Rik	APN	8	106,436,668 (GRCm39)	missense	probably damaging	0.98
IGL01845:4933405L10Rik	APN	8	106,435,567 (GRCm39)	missense	probably benign
R0096:4933405L10Rik	UTSW	8	106,435,563 (GRCm39)	splice site	probably null
R0096:4933405L10Rik	UTSW	8	106,435,563 (GRCm39)	splice site	probably null
R0396:4933405L10Rik	UTSW	8	106,436,412 (GRCm39)	missense	probably benign	0.06
R0711:4933405L10Rik	UTSW	8	106,435,563 (GRCm39)	splice site	probably null
R1037:4933405L10Rik	UTSW	8	106,436,144 (GRCm39)	missense	probably benign	0.32
R1816:4933405L10Rik	UTSW	8	106,436,491 (GRCm39)	missense	possibly damaging	0.50
R1843:4933405L10Rik	UTSW	8	106,435,606 (GRCm39)	missense	probably damaging	0.98
R4332:4933405L10Rik	UTSW	8	106,436,356 (GRCm39)	missense	possibly damaging	0.92
R4868:4933405L10Rik	UTSW	8	106,436,729 (GRCm39)	makesense	probably null
R5072:4933405L10Rik	UTSW	8	106,436,201 (GRCm39)	missense	possibly damaging	0.71
R5285:4933405L10Rik	UTSW	8	106,435,097 (GRCm39)	missense	probably benign
R5656:4933405L10Rik	UTSW	8	106,436,144 (GRCm39)	missense	probably benign	0.32
R6196:4933405L10Rik	UTSW	8	106,436,554 (GRCm39)	missense	possibly damaging	0.92
R6524:4933405L10Rik	UTSW	8	106,435,641 (GRCm39)	missense	possibly damaging	0.71
R9578:4933405L10Rik	UTSW	8	106,436,505 (GRCm39)	missense	probably damaging	0.99
R9651:4933405L10Rik	UTSW	8	106,436,604 (GRCm39)	missense
Z1088:4933405L10Rik	UTSW	8	106,436,395 (GRCm39)	missense	probably damaging	1.00
Z1177:4933405L10Rik	UTSW	8	106,436,607 (GRCm39)	missense	possibly damaging	0.73
Z1177:4933405L10Rik	UTSW	8	106,436,605 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CTACAAGTAGAGAGGCCTAAGCTG -3'
(R):5'- TTTCTCTTGGGCCCATGAGC -3'

Sequencing Primer
(F):5'- AGAGGCCTAAGCTGGTTACCTTC -3'
(R):5'- AGCTGGTCTCACGATGGATGAC -3'

Posted On

2018-07-23