Mutagenetix > Incidental Mutation

Incidental Mutation 'R6524:4933405L10Rik'

521601

Institutional Source

Beutler Lab

Gene Symbol

4933405L10Rik

Ensembl Gene

ENSMUSG00000013158

Gene Name

RIKEN cDNA 4933405L10 gene

Synonyms

MMRRC Submission

044650-MU

Accession Numbers

Essential gene?

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

Stock #

R6524 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106434921-106436877 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106435641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 100 (R100G)

Ref Sequence

ENSEMBL: ENSMUSP00000148838 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013294] [ENSMUST00000013299] [ENSMUST00000013302] [ENSMUST00000211852] [ENSMUST00000212061]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000013294

SMART Domains

Protein: ENSMUSP00000013294
Gene: ENSMUSG00000013150

Domain	Start	End	E-Value	Type
Pfam:GFO_IDH_MocA	6	119	3.7e-14	PFAM
low complexity region	169	180	N/A	INTRINSIC

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

possibly damaging
Transcript: ENSMUST00000013302
AA Change: R100G

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000013302
Gene: ENSMUSG00000013158
AA Change: R100G

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

possibly damaging
Transcript: ENSMUST00000211852
AA Change: R100G

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

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: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	G	T	14: 54,882,740 (GRCm39)	D237E	probably damaging	Het
Ankfy1	G	A	11: 72,621,308 (GRCm39)	R198Q	possibly damaging	Het
C3	A	T	17: 57,524,264 (GRCm39)		probably null	Het
Dnaaf2	A	T	12: 69,237,159 (GRCm39)	C650S	probably benign	Het
Dsg2	T	G	18: 20,716,093 (GRCm39)	F315V	probably damaging	Het
Dyrk1a	C	T	16: 94,485,979 (GRCm39)	S404L	probably benign	Het
Eefsec	T	C	6: 88,274,902 (GRCm39)		probably null	Het
Esco1	T	G	18: 10,582,188 (GRCm39)		probably null	Het
Fam83a	T	C	15: 57,858,736 (GRCm39)		probably null	Het
Fat3	A	T	9: 15,903,552 (GRCm39)	V2981E	probably damaging	Het
H1f11-ps	G	A	19: 47,158,999 (GRCm39)	T192M	unknown	Het
Heatr5b	A	G	17: 79,121,535 (GRCm39)	L730P	possibly damaging	Het
Hgsnat	A	G	8: 26,435,260 (GRCm39)	S625P	probably damaging	Het
Itpr1	C	T	6: 108,340,644 (GRCm39)	T84I	probably damaging	Het
Itpr2	T	C	6: 146,246,709 (GRCm39)	N1070S	probably benign	Het
Itsn1	T	C	16: 91,708,883 (GRCm39)	F276L	probably damaging	Het
Krt84	A	G	15: 101,441,187 (GRCm39)	S2P	unknown	Het
Lbhd2	G	A	12: 111,376,724 (GRCm39)	R57H	probably damaging	Het
Lcmt2	T	C	2: 120,969,412 (GRCm39)	E337G	possibly damaging	Het
Lrp1b	T	C	2: 40,741,816 (GRCm39)	E3037G	possibly damaging	Het
Lrp2	T	C	2: 69,266,983 (GRCm39)	E4308G	possibly damaging	Het
Med13	A	G	11: 86,192,293 (GRCm39)	I824T	probably damaging	Het
Meiob	G	A	17: 25,051,491 (GRCm39)	V291I	probably benign	Het
Mtcl1	A	T	17: 66,655,280 (GRCm39)	D1343E	probably benign	Het
Mybl2	C	A	2: 162,916,450 (GRCm39)	P367Q	possibly damaging	Het
Nav3	T	C	10: 109,555,891 (GRCm39)	N1680S	probably damaging	Het
Nif3l1	T	C	1: 58,496,999 (GRCm39)	V308A	probably benign	Het
Or5h23	C	T	16: 58,906,640 (GRCm39)	V69M	possibly damaging	Het
Pclo	G	A	5: 14,768,883 (GRCm39)	R4366H	unknown	Het
Phax	T	A	18: 56,720,074 (GRCm39)	D338E	probably damaging	Het
Pnpla6	T	A	8: 3,584,519 (GRCm39)		probably null	Het
Rint1	A	T	5: 24,020,737 (GRCm39)	M529L	probably benign	Het
Scand1	C	T	2: 156,154,169 (GRCm39)		probably benign	Het
Six3	C	T	17: 85,929,398 (GRCm39)	T244I	probably damaging	Het
Slc4a4	T	C	5: 89,380,623 (GRCm39)	S1034P	probably benign	Het
Ssu72	T	G	4: 155,799,997 (GRCm39)	N53K	probably null	Het
Timm44	T	C	8: 4,317,988 (GRCm39)	D140G	possibly damaging	Het
Tspan8	T	C	10: 115,679,984 (GRCm39)	F200L	probably benign	Het
Tyw5	A	T	1: 57,427,890 (GRCm39)	V234D	possibly damaging	Het
Ubxn10	T	A	4: 138,448,194 (GRCm39)	R161*	probably null	Het
Vmn2r23	T	A	6: 123,690,384 (GRCm39)	L420Q	probably damaging	Het
Wdr1	A	T	5: 38,687,406 (GRCm39)	D208E	probably benign	Het
Yif1a	A	G	19: 5,142,204 (GRCm39)	Y230C	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
R6657:4933405L10Rik	UTSW	8	106,435,450 (GRCm39)	missense	probably damaging	0.98
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'- GAACAGAAGAGTGTCTGGTGCC -3'
(R):5'- TATGGTAGCTCAGTCTCCTTGC -3'

Sequencing Primer
(F):5'- CACATGAGACCTGCAGGAGC -3'
(R):5'- CTCAGTCTCCTTGCAAGATCTAGAAG -3'

Posted On

2018-06-06