Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02295:4933411K16Rik'

290156

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4933411K16Rik

Ensembl Gene

ENSMUSG00000090369

Gene Name

RIKEN cDNA 4933411K16 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

IGL02295

Quality Score

Status

Chromosome

Chromosomal Location

42040687-42042066 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42041394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 175 (N175S)

Ref Sequence

ENSEMBL: ENSMUSP00000131279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081714] [ENSMUST00000164518] [ENSMUST00000172244]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000081714

SMART Domains

Protein: ENSMUSP00000080414
Gene: ENSMUSG00000025176

Domain	Start	End	E-Value	Type
DHDPS	28	319	8.34e-81	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164518
AA Change: N175S

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131279
Gene: ENSMUSG00000090369
AA Change: N175S

Domain	Start	End	E-Value	Type
low complexity region	195	206	N/A	INTRINSIC
low complexity region	225	248	N/A	INTRINSIC
low complexity region	264	292	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167381

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168414

Predicted Effect

probably benign
Transcript: ENSMUST00000172244

SMART Domains

Protein: ENSMUSP00000126037
Gene: ENSMUSG00000025176

Domain	Start	End	E-Value	Type
Pfam:DHDPS	57	156	5.8e-11	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	A	T	8: 41,249,873 (GRCm39)	N661I	probably damaging	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or51f1	T	A	7: 102,506,031 (GRCm39)	M153L	probably benign	Het
Or6c1b	T	A	10: 129,272,903 (GRCm39)	V74D	possibly damaging	Het
Pdlim2	T	A	14: 70,403,532 (GRCm39)		probably benign	Het
Phtf2	T	C	5: 21,012,428 (GRCm39)	D49G	probably damaging	Het
Ppp1ca	T	A	19: 4,244,481 (GRCm39)	L180*	probably null	Het
Prdm10	T	C	9: 31,273,664 (GRCm39)	V1027A	probably benign	Het
Slc38a10	T	C	11: 120,007,684 (GRCm39)		probably benign	Het
Tlr1	A	T	5: 65,083,290 (GRCm39)	L429*	probably null	Het
Vmn1r172	A	T	7: 23,359,342 (GRCm39)	T76S	probably benign	Het
Vps13a	A	G	19: 16,692,406 (GRCm39)		probably benign	Het

Other mutations in 4933411K16Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:4933411K16Rik	APN	19	42,040,983 (GRCm39)	missense	probably damaging	0.99
R0615:4933411K16Rik	UTSW	19	42,040,962 (GRCm39)	missense	possibly damaging	0.92
R1496:4933411K16Rik	UTSW	19	42,041,489 (GRCm39)	missense	probably damaging	0.99
R3829:4933411K16Rik	UTSW	19	42,041,322 (GRCm39)	missense	probably damaging	1.00
R4983:4933411K16Rik	UTSW	19	42,041,515 (GRCm39)	missense	possibly damaging	0.87
R5717:4933411K16Rik	UTSW	19	42,041,484 (GRCm39)	missense	probably benign	0.17
R6719:4933411K16Rik	UTSW	19	42,041,151 (GRCm39)	missense	possibly damaging	0.73
R7120:4933411K16Rik	UTSW	19	42,041,112 (GRCm39)	missense	probably benign
R7121:4933411K16Rik	UTSW	19	42,041,112 (GRCm39)	missense	probably benign
R9585:4933411K16Rik	UTSW	19	42,041,352 (GRCm39)	missense	probably benign	0.19

Posted On

2015-04-16