Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02721:4931414P19Rik'

305005

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4931414P19Rik

Ensembl Gene

ENSMUSG00000022179

Gene Name

RIKEN cDNA 4931414P19 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

IGL02721

Quality Score

Status

Chromosome

Chromosomal Location

54821120-54843450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54823202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 332 (S332P)

Ref Sequence

ENSEMBL: ENSMUSP00000022786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022786]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000022786
AA Change: S332P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022786
Gene: ENSMUSG00000022179
AA Change: S332P

Domain	Start	End	E-Value	Type
Pfam:DUF4616	2	538	1.5e-263	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082808

Predicted Effect

probably benign
Transcript: ENSMUST00000227280

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228422

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	A	9: 55,888,124 (GRCm39)	I398L	probably benign	Het
Abca7	T	C	10: 79,849,469 (GRCm39)	S1877P	possibly damaging	Het
Adora2b	G	T	11: 62,155,931 (GRCm39)	A127S	probably damaging	Het
Ahnak	A	G	19: 8,987,071 (GRCm39)	K2785R	probably benign	Het
Anapc2	G	A	2: 25,164,680 (GRCm39)	W21*	probably null	Het
Atp7b	A	G	8: 22,512,493 (GRCm39)	S457P	probably benign	Het
Catsperb	A	G	12: 101,591,556 (GRCm39)	Q1046R	probably null	Het
Comp	A	T	8: 70,828,731 (GRCm39)	N188Y	probably damaging	Het
Crnkl1	A	T	2: 145,765,801 (GRCm39)	I423K	possibly damaging	Het
Crtap	A	T	9: 114,210,707 (GRCm39)	V289E	probably damaging	Het
Ctnna2	T	C	6: 76,958,852 (GRCm39)	N454S	probably damaging	Het
Dnah5	A	T	15: 28,234,389 (GRCm39)		probably null	Het
Dstyk	T	G	1: 132,377,054 (GRCm39)	V220G	probably benign	Het
E230025N22Rik	C	T	18: 36,828,664 (GRCm39)	V5M	probably damaging	Het
Fam111a	T	G	19: 12,564,336 (GRCm39)	N28K	probably benign	Het
Fbxo32	A	G	15: 58,046,358 (GRCm39)	I284T	possibly damaging	Het
Fgb	A	C	3: 82,950,674 (GRCm39)	V360G	possibly damaging	Het
Gm3404	A	T	5: 146,463,738 (GRCm39)	R128*	probably null	Het
Hal	G	T	10: 93,343,360 (GRCm39)	G535*	probably null	Het
Ifna1	A	G	4: 88,768,523 (GRCm39)	D67G	probably benign	Het
Igsf5	T	A	16: 96,192,222 (GRCm39)	S274T	probably damaging	Het
Kdm7a	C	T	6: 39,150,371 (GRCm39)	A134T	possibly damaging	Het
Klhl25	G	T	7: 75,516,648 (GRCm39)	W518L	probably damaging	Het
Map1a	A	T	2: 121,134,518 (GRCm39)	D1778V	probably benign	Het
Nif3l1	A	G	1: 58,497,008 (GRCm39)	D311G	probably damaging	Het
Numa1	A	G	7: 101,649,118 (GRCm39)	T950A	probably benign	Het
Nup54	A	T	5: 92,565,716 (GRCm39)	I406N	possibly damaging	Het
Or10ab5	G	T	7: 108,245,582 (GRCm39)	S67*	probably null	Het
Or2y1d	T	A	11: 49,321,468 (GRCm39)	L55*	probably null	Het
Or6c210	C	T	10: 129,495,824 (GRCm39)	P50S	probably benign	Het
Or6c211	A	T	10: 129,505,992 (GRCm39)	I132N	probably benign	Het
Pcdhb18	T	A	18: 37,623,084 (GRCm39)	M138K	probably benign	Het
Pik3c2g	A	G	6: 139,682,699 (GRCm39)	T27A	probably benign	Het
Plekhb2	A	G	1: 34,908,445 (GRCm39)	N163S	probably benign	Het
Ros1	G	A	10: 52,048,927 (GRCm39)		probably benign	Het
Sh3gl1	A	G	17: 56,324,577 (GRCm39)	L357P	possibly damaging	Het
Skint5	T	A	4: 113,799,746 (GRCm39)	D141V	probably damaging	Het
Slc10a5	A	G	3: 10,399,595 (GRCm39)	V355A	probably benign	Het
Speer1c	T	C	5: 10,293,883 (GRCm39)	K106E	probably damaging	Het
Ssh2	G	T	11: 77,345,551 (GRCm39)	G1179*	probably null	Het
Syde2	A	G	3: 145,707,759 (GRCm39)	N566S	probably damaging	Het
Sytl1	T	C	4: 132,986,189 (GRCm39)	R149G	probably benign	Het
Tnpo2	A	G	8: 85,781,319 (GRCm39)		probably null	Het
Top2b	T	C	14: 16,409,236 (GRCm38)	L793P	probably damaging	Het
U2surp	T	A	9: 95,356,488 (GRCm39)	E789D	probably benign	Het
Vps13c	G	A	9: 67,871,431 (GRCm39)		probably benign	Het
Zbtb34	C	T	2: 33,301,270 (GRCm39)	G424R	probably damaging	Het
Zfhx4	A	G	3: 5,308,367 (GRCm39)	D531G	possibly damaging	Het
Zfp787	C	T	7: 6,135,463 (GRCm39)		probably null	Het

Other mutations in 4931414P19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:4931414P19Rik	APN	14	54,833,035 (GRCm39)	missense	possibly damaging	0.56
IGL01448:4931414P19Rik	APN	14	54,823,417 (GRCm39)	missense	possibly damaging	0.77
IGL01934:4931414P19Rik	APN	14	54,823,112 (GRCm39)	missense	probably damaging	1.00
IGL02194:4931414P19Rik	APN	14	54,828,812 (GRCm39)	nonsense	probably null
IGL03124:4931414P19Rik	APN	14	54,832,596 (GRCm39)	missense	probably benign	0.00
R0575:4931414P19Rik	UTSW	14	54,828,709 (GRCm39)	missense	possibly damaging	0.62
R2049:4931414P19Rik	UTSW	14	54,822,444 (GRCm39)	nonsense	probably null
R3829:4931414P19Rik	UTSW	14	54,821,966 (GRCm39)	missense	probably damaging	1.00
R3876:4931414P19Rik	UTSW	14	54,828,857 (GRCm39)	nonsense	probably null
R4392:4931414P19Rik	UTSW	14	54,822,435 (GRCm39)	critical splice donor site	probably null
R4680:4931414P19Rik	UTSW	14	54,822,533 (GRCm39)	missense	probably damaging	1.00
R4805:4931414P19Rik	UTSW	14	54,832,911 (GRCm39)	missense	probably benign	0.00
R4940:4931414P19Rik	UTSW	14	54,828,782 (GRCm39)	missense	probably benign
R5091:4931414P19Rik	UTSW	14	54,823,168 (GRCm39)	missense	probably damaging	1.00
R5291:4931414P19Rik	UTSW	14	54,823,394 (GRCm39)	missense	probably damaging	1.00
R5594:4931414P19Rik	UTSW	14	54,822,441 (GRCm39)	missense	probably damaging	1.00
R6815:4931414P19Rik	UTSW	14	54,828,610 (GRCm39)	missense	probably damaging	1.00
R7031:4931414P19Rik	UTSW	14	54,833,058 (GRCm39)	missense	probably benign	0.23
R7229:4931414P19Rik	UTSW	14	54,832,809 (GRCm39)	missense	probably benign	0.00
R7616:4931414P19Rik	UTSW	14	54,823,123 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16