Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01374:4933402N03Rik'

78645

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4933402N03Rik

Ensembl Gene

ENSMUSG00000013668

Gene Name

RIKEN cDNA 4933402N03 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01374

Quality Score

Status

Chromosome

Chromosomal Location

130740076-130748012 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130747830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 54 (H54R)

Ref Sequence

ENSEMBL: ENSMUSP00000070291 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070980] [ENSMUST00000124096]

AlphaFold

Q8CDT9

Predicted Effect

probably benign
Transcript: ENSMUST00000070980
AA Change: H54R

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185969

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186532

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190866

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	T	C	11: 54,229,245 (GRCm39)	V359A	probably damaging	Het
Aldh3a2	C	T	11: 61,139,828 (GRCm39)	V435I	probably benign	Het
Atm	A	T	9: 53,443,024 (GRCm39)	S80T	possibly damaging	Het
Atp8b4	A	T	2: 126,225,577 (GRCm39)		probably benign	Het
Atxn1	T	C	13: 45,721,903 (GRCm39)		probably benign	Het
Chd3	T	C	11: 69,250,806 (GRCm39)	E641G	probably damaging	Het
Clpb	T	C	7: 101,422,335 (GRCm39)	V346A	probably damaging	Het
Ctnnbl1	T	A	2: 157,678,613 (GRCm39)		probably null	Het
Cyp2b19	C	T	7: 26,458,504 (GRCm39)	P73L	probably benign	Het
Dcc	T	C	18: 71,507,624 (GRCm39)	Y916C	probably damaging	Het
Fat4	A	G	3: 38,941,647 (GRCm39)	N180S	probably damaging	Het
Foxi1	A	C	11: 34,157,984 (GRCm39)	C14G	probably damaging	Het
Fut4	G	T	9: 14,662,786 (GRCm39)	F169L	probably benign	Het
Grip1	T	C	10: 119,885,273 (GRCm39)	S748P	probably benign	Het
Hnrnpr	T	C	4: 136,054,729 (GRCm39)		probably benign	Het
Ifnz	G	A	4: 88,701,578 (GRCm39)		probably benign	Het
Krt28	A	G	11: 99,262,294 (GRCm39)	V232A	probably benign	Het
Lyar	C	A	5: 38,385,391 (GRCm39)		probably null	Het
Manba	G	A	3: 135,260,541 (GRCm39)	W575*	probably null	Het
Morc3	T	A	16: 93,641,101 (GRCm39)	D44E	probably damaging	Het
Mrc2	T	A	11: 105,238,469 (GRCm39)	Y1205*	probably null	Het
Myh2	A	T	11: 67,068,250 (GRCm39)	T293S	probably benign	Het
Nlrp10	T	A	7: 108,523,788 (GRCm39)	K564I	possibly damaging	Het
Nuak1	A	G	10: 84,210,532 (GRCm39)	S519P	probably damaging	Het
Or12k5	T	C	2: 36,894,942 (GRCm39)	H228R	probably benign	Het
Or9m2	T	C	2: 87,820,892 (GRCm39)	F146L	probably benign	Het
Padi2	T	A	4: 140,660,496 (GRCm39)	N325K	probably damaging	Het
Pcdhb19	A	T	18: 37,631,042 (GRCm39)	Y279F	probably damaging	Het
Phldb1	A	G	9: 44,607,464 (GRCm39)	L1247P	probably damaging	Het
Rmdn3	A	G	2: 118,984,428 (GRCm39)	V108A	probably damaging	Het
Slc22a5	A	G	11: 53,758,490 (GRCm39)	F437L	probably benign	Het
Slc3a2	C	T	19: 8,690,701 (GRCm39)		probably null	Het
Slc5a3	T	A	16: 91,874,006 (GRCm39)	M21K	probably benign	Het
Spink5	T	A	18: 44,122,471 (GRCm39)	F312Y	possibly damaging	Het
Stab1	T	C	14: 30,869,032 (GRCm39)	Y1531C	probably damaging	Het
Tln2	C	A	9: 67,169,205 (GRCm39)	A433S	probably damaging	Het
Usp24	C	T	4: 106,237,296 (GRCm39)	L1076F	possibly damaging	Het
Vmn2r117	T	C	17: 23,697,356 (GRCm39)	Y112C	possibly damaging	Het
Vmn2r16	C	T	5: 109,478,283 (GRCm39)	L13F	probably benign	Het
Vmn2r76	T	C	7: 85,874,857 (GRCm39)	M707V	probably benign	Het
Zmym4	A	T	4: 126,762,750 (GRCm39)	F1358I	probably damaging	Het

Other mutations in 4933402N03Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01289:4933402N03Rik	APN	7	130,740,350 (GRCm39)	missense	probably benign	0.14
IGL01394:4933402N03Rik	APN	7	130,747,960 (GRCm39)	nonsense	probably null
IGL01640:4933402N03Rik	APN	7	130,740,848 (GRCm39)	missense	possibly damaging	0.90
IGL01713:4933402N03Rik	APN	7	130,740,772 (GRCm39)	missense	possibly damaging	0.92
H8786:4933402N03Rik	UTSW	7	130,740,906 (GRCm39)	missense	probably damaging	0.96
R0321:4933402N03Rik	UTSW	7	130,747,956 (GRCm39)	missense	probably benign	0.00
R0496:4933402N03Rik	UTSW	7	130,747,860 (GRCm39)	missense	probably benign
R0541:4933402N03Rik	UTSW	7	130,740,872 (GRCm39)	missense	probably benign	0.01
R1527:4933402N03Rik	UTSW	7	130,740,589 (GRCm39)	missense	probably benign	0.10
R1750:4933402N03Rik	UTSW	7	130,747,859 (GRCm39)	missense	probably benign	0.09
R2047:4933402N03Rik	UTSW	7	130,747,836 (GRCm39)	missense	probably damaging	0.96
R2404:4933402N03Rik	UTSW	7	130,740,923 (GRCm39)	missense	possibly damaging	0.94
R3881:4933402N03Rik	UTSW	7	130,740,823 (GRCm39)	missense	probably benign	0.19
R4507:4933402N03Rik	UTSW	7	130,747,601 (GRCm39)	missense	probably damaging	1.00
R4684:4933402N03Rik	UTSW	7	130,740,413 (GRCm39)	missense	probably damaging	0.96
R5368:4933402N03Rik	UTSW	7	130,740,925 (GRCm39)	missense	possibly damaging	0.92
R5814:4933402N03Rik	UTSW	7	130,740,811 (GRCm39)	missense	probably benign	0.09
R6238:4933402N03Rik	UTSW	7	130,747,863 (GRCm39)	missense	probably benign	0.05
R8964:4933402N03Rik	UTSW	7	130,740,716 (GRCm39)	missense	probably benign	0.15
R9655:4933402N03Rik	UTSW	7	130,740,695 (GRCm39)	missense	possibly damaging	0.92

Posted On

2013-11-05