Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02244:4932438H23Rik'

286113

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4932438H23Rik

Ensembl Gene

ENSMUSG00000039851

Gene Name

RIKEN cDNA 4932438H23 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02244

Quality Score

Status

Chromosome

Chromosomal Location

90841534-90866040 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 90853085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 17 (T17K)

Ref Sequence

ENSEMBL: ENSMUSP00000122640 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035689] [ENSMUST00000114076] [ENSMUST00000146047]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035689
AA Change: T17K

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000040111
Gene: ENSMUSG00000039851
AA Change: T17K

Domain	Start	End	E-Value	Type
Pfam:DUF4571	19	230	8.6e-115	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114076
AA Change: T17K

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000109710
Gene: ENSMUSG00000039851
AA Change: T17K

Domain	Start	End	E-Value	Type
Pfam:DUF4571	20	230	2.2e-103	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146047
AA Change: T17K

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122640
Gene: ENSMUSG00000039851
AA Change: T17K

Domain	Start	End	E-Value	Type
Pfam:DUF4571	19	136	4.1e-66	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147848

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl1	T	C	7: 76,416,120 (GRCm39)	S714P	probably damaging	Het
Araf	A	G	X: 20,719,835 (GRCm39)		probably benign	Het
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Armc8	A	T	9: 99,365,227 (GRCm39)	D638E	probably benign	Het
Bpifb5	C	T	2: 154,067,068 (GRCm39)	T107I	possibly damaging	Het
Ces1e	A	C	8: 93,938,977 (GRCm39)		probably null	Het
Col4a3	C	A	1: 82,647,492 (GRCm39)		probably benign	Het
Col4a5	A	G	X: 140,382,669 (GRCm39)		probably benign	Het
Crocc	T	C	4: 140,765,231 (GRCm39)	H477R	probably benign	Het
Dgkd	C	A	1: 87,842,863 (GRCm39)	N130K	probably benign	Het
Dock1	C	T	7: 134,379,174 (GRCm39)	Q634*	probably null	Het
Dzip3	C	T	16: 48,801,351 (GRCm39)	V58I	probably benign	Het
Fndc3a	A	G	14: 72,793,807 (GRCm39)		probably benign	Het
Glp2r	C	T	11: 67,612,817 (GRCm39)	R379H	probably damaging	Het
Kctd12b	T	A	X: 152,472,330 (GRCm39)	M120L	probably benign	Het
Krt33b	A	G	11: 99,916,189 (GRCm39)	V258A	probably benign	Het
Lpin1	T	A	12: 16,591,770 (GRCm39)	N819I	probably damaging	Het
Lurap1l	T	C	4: 80,871,866 (GRCm39)	S120P	probably damaging	Het
Lysmd4	T	C	7: 66,875,672 (GRCm39)	S112P	probably damaging	Het
Myo1e	A	G	9: 70,274,971 (GRCm39)	K708R	probably benign	Het
Nr3c1	T	A	18: 39,554,610 (GRCm39)		probably benign	Het
Nup62cl	G	T	X: 138,922,780 (GRCm39)	N239K	probably benign	Het
Nwd1	A	T	8: 73,434,210 (GRCm39)	E1269V	probably damaging	Het
Or52e7	C	T	7: 104,685,152 (GRCm39)	T249M	probably damaging	Het
Pcdh9	A	C	14: 93,564,204 (GRCm39)	L1084R	probably damaging	Het
Plxnd1	A	G	6: 115,955,218 (GRCm39)	M543T	probably benign	Het
Prss53	T	A	7: 127,487,964 (GRCm39)	T173S	possibly damaging	Het
Reep2	C	A	18: 34,973,807 (GRCm39)		probably benign	Het
Rp1	T	C	1: 4,419,003 (GRCm39)	D703G	probably benign	Het
Sbf2	T	G	7: 110,159,502 (GRCm39)	D36A	probably damaging	Het
Sh3kbp1	C	T	X: 158,586,724 (GRCm39)	R99W	probably damaging	Het
Sis	T	A	3: 72,863,523 (GRCm39)	R238S	probably benign	Het
Slc35e2	T	A	4: 155,703,019 (GRCm39)	V344D	probably damaging	Het
Specc1	G	A	11: 62,019,194 (GRCm39)	V678I	probably benign	Het
Supt6	T	C	11: 78,123,623 (GRCm39)	D49G	possibly damaging	Het
Tecpr1	G	A	5: 144,146,821 (GRCm39)	A515V	probably benign	Het
Tlr4	G	A	4: 66,752,298 (GRCm39)		probably null	Het
Tmco5b	A	G	2: 113,118,619 (GRCm39)	E114G	probably damaging	Het
Tspear	A	T	10: 77,688,690 (GRCm39)		probably benign	Het
Txlnb	T	A	10: 17,719,116 (GRCm39)	V649E	probably benign	Het
Utp20	A	G	10: 88,651,818 (GRCm39)		probably benign	Het
Virma	G	A	4: 11,546,031 (GRCm39)	R1673Q	probably damaging	Het
Vmn2r70	T	A	7: 85,214,211 (GRCm39)	T314S	probably benign	Het
Zfp938	G	T	10: 82,061,906 (GRCm39)	T238K	possibly damaging	Het

Other mutations in 4932438H23Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00686:4932438H23Rik	APN	16	90,852,489 (GRCm39)	missense	possibly damaging	0.90
IGL01934:4932438H23Rik	APN	16	90,852,753 (GRCm39)	missense	probably damaging	1.00
IGL02060:4932438H23Rik	APN	16	90,852,603 (GRCm39)	missense	probably damaging	0.99
IGL02623:4932438H23Rik	APN	16	90,853,032 (GRCm39)	missense	probably benign	0.02
PIT4810001:4932438H23Rik	UTSW	16	90,852,822 (GRCm39)	missense	probably damaging	1.00
R0135:4932438H23Rik	UTSW	16	90,852,515 (GRCm39)	missense	probably damaging	0.99
R0932:4932438H23Rik	UTSW	16	90,852,995 (GRCm39)	missense	probably benign	0.00
R4591:4932438H23Rik	UTSW	16	90,852,959 (GRCm39)	missense	probably damaging	0.99
R6472:4932438H23Rik	UTSW	16	90,852,891 (GRCm39)	missense	probably benign	0.00
R6513:4932438H23Rik	UTSW	16	90,852,654 (GRCm39)	missense	probably benign	0.00
R7067:4932438H23Rik	UTSW	16	90,852,921 (GRCm39)	missense	probably damaging	1.00
R7472:4932438H23Rik	UTSW	16	90,852,744 (GRCm39)	missense	probably benign	0.06
R8369:4932438H23Rik	UTSW	16	90,852,657 (GRCm39)	missense	probably benign	0.07
R8469:4932438H23Rik	UTSW	16	90,852,797 (GRCm39)	missense	probably damaging	1.00
R8508:4932438H23Rik	UTSW	16	90,852,500 (GRCm39)	missense	probably damaging	1.00
R8680:4932438H23Rik	UTSW	16	90,852,551 (GRCm39)	missense	probably damaging	1.00
R8884:4932438H23Rik	UTSW	16	90,852,737 (GRCm39)	missense	probably damaging	1.00
R9166:4932438H23Rik	UTSW	16	90,853,046 (GRCm39)	missense	possibly damaging	0.94
R9335:4932438H23Rik	UTSW	16	90,852,830 (GRCm39)	missense	probably damaging	1.00
R9390:4932438H23Rik	UTSW	16	90,853,096 (GRCm39)	missense	probably benign	0.23
Z1088:4932438H23Rik	UTSW	16	90,852,701 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16