Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00686:4932438H23Rik'

8482

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 #

IGL00686

Quality Score

Status

Chromosome

Chromosomal Location

90841534-90866040 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90852489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 216 (S216P)

Ref Sequence

ENSEMBL: ENSMUSP00000109710 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035689
AA Change: S216P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040111
Gene: ENSMUSG00000039851
AA Change: S216P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114076
AA Change: S216P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109710
Gene: ENSMUSG00000039851
AA Change: S216P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000146047

SMART Domains

Protein: ENSMUSP00000122640
Gene: ENSMUSG00000039851

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: 6 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Btk	A	G	X: 133,460,013 (GRCm39)	Y152H	probably damaging	Het
Casp8ap2	A	G	4: 32,641,433 (GRCm39)	D829G	probably damaging	Het
Fam135b	A	G	15: 71,334,168 (GRCm39)	S1009P	probably benign	Het
Glt8d2	T	A	10: 82,487,347 (GRCm39)	N298Y	possibly damaging	Het
Samt4	C	T	X: 153,267,128 (GRCm39)	T89I	probably benign	Het
Tlcd3b	C	T	7: 126,424,175 (GRCm39)		probably benign	Het

Other mutations in 4932438H23Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02244:4932438H23Rik	APN	16	90,853,085 (GRCm39)	missense	probably benign	0.23
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

2012-12-06