Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01289:4933402N03Rik'

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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 #

IGL01289

Quality Score

Status

Chromosome

Chromosomal Location

130740076-130748012 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 130740350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 289 (M289L)

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: M289L

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg2	A	T	6: 83,500,157 (GRCm39)	M38K	probably damaging	Het
Atp8a2	G	A	14: 59,928,910 (GRCm39)	A1048V	probably benign	Het
Cables1	T	C	18: 12,077,621 (GRCm39)	V583A	probably damaging	Het
Ccng2	A	G	5: 93,421,276 (GRCm39)	K262R	probably null	Het
Cfap206	C	A	4: 34,716,469 (GRCm39)	S332I	probably null	Het
Dscam	A	T	16: 96,445,082 (GRCm39)	Y1536*	probably null	Het
Fam136b-ps	T	A	15: 31,277,010 (GRCm39)		probably benign	Het
Fga	A	G	3: 82,938,552 (GRCm39)	Y309C	possibly damaging	Het
Fgd4	A	T	16: 16,302,167 (GRCm39)	N129K	probably damaging	Het
Gbp8	G	A	5: 105,165,735 (GRCm39)	A306V	probably benign	Het
Hecw1	T	C	13: 14,438,719 (GRCm39)	Y888C	probably damaging	Het
Herc6	G	A	6: 57,575,608 (GRCm39)	G210R	probably damaging	Het
Ints7	G	A	1: 191,347,890 (GRCm39)	R754H	probably benign	Het
Itga1	T	C	13: 115,122,762 (GRCm39)	I731M	possibly damaging	Het
Itpr2	T	A	6: 146,014,033 (GRCm39)	K2588*	probably null	Het
Itpr3	T	A	17: 27,318,739 (GRCm39)	M965K	probably damaging	Het
Kif22	A	G	7: 126,632,645 (GRCm39)	V247A	probably damaging	Het
Lrrc17	T	C	5: 21,765,899 (GRCm39)	F127S	probably damaging	Het
Lrriq4	T	A	3: 30,704,542 (GRCm39)	L190Q	probably damaging	Het
Mcee	T	A	7: 64,050,066 (GRCm39)	F66I	probably damaging	Het
Med23	T	C	10: 24,778,019 (GRCm39)	F789S	probably damaging	Het
Nmd3	T	G	3: 69,631,620 (GRCm39)	S25R	possibly damaging	Het
Npy5r	T	A	8: 67,134,518 (GRCm39)	N92Y	possibly damaging	Het
Or4a69	A	G	2: 89,313,191 (GRCm39)	M96T	probably benign	Het
Rnf224	G	T	2: 25,126,259 (GRCm39)	D31E	possibly damaging	Het
Timd2	T	C	11: 46,570,499 (GRCm39)	E192G	probably benign	Het
Ttll13	T	A	7: 79,910,187 (GRCm39)	C777S	probably benign	Het
Tubgcp3	A	G	8: 12,689,625 (GRCm39)	L547P	probably damaging	Het
Usp47	G	T	7: 111,662,565 (GRCm39)	V236F	probably damaging	Het
Xirp2	A	T	2: 67,343,525 (GRCm39)	N1922I	probably damaging	Het
Zdhhc24	G	T	19: 4,928,850 (GRCm39)	W25L	probably damaging	Het

Other mutations in 4933402N03Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01374:4933402N03Rik	APN	7	130,747,830 (GRCm39)	missense	probably benign	0.34
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

2013-10-07