Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01448:4931414P19Rik'

84488

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: 0.096) question?

Stock #

IGL01448

Quality Score

Status

Chromosome

Chromosomal Location

54583663-54605993 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54585960 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 320 (D320G)

Ref Sequence

ENSEMBL: ENSMUSP00000022786 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022786
AA Change: D320G

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022786
Gene: ENSMUSG00000022179
AA Change: D320G

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020A23Rik	A	T	2: 130,405,847 (GRCm38)	E75D	possibly damaging	Het
1700084J12Rik	A	G	15: 33,405,633 (GRCm38)		probably benign	Het
2610303G11Rik	T	A	9: 98,186,709 (GRCm38)		noncoding transcript	Het
Adamts6	G	A	13: 104,297,164 (GRCm38)	E34K	probably damaging	Het
Alms1	T	A	6: 85,677,899 (GRCm38)	N3142K	possibly damaging	Het
Anapc7	G	A	5: 122,428,213 (GRCm38)	A62T	probably damaging	Het
Atp8b3	G	A	10: 80,520,422 (GRCm38)	P1152L	probably benign	Het
Cc2d2a	C	T	5: 43,684,185 (GRCm38)	T181I	possibly damaging	Het
Celsr2	A	G	3: 108,393,239 (GRCm38)	L2835P	probably damaging	Het
Ctns	A	T	11: 73,188,722 (GRCm38)	V99D	possibly damaging	Het
Dchs1	T	C	7: 105,771,927 (GRCm38)	R429G	probably damaging	Het
Ddx11	T	C	17: 66,134,137 (GRCm38)	V218A	probably damaging	Het
Eftud2	G	A	11: 102,865,563 (GRCm38)		probably benign	Het
Erich1	G	T	8: 14,078,853 (GRCm38)	T29N	possibly damaging	Het
Exosc8	T	C	3: 54,729,265 (GRCm38)	E215G	probably damaging	Het
Fam184a	G	T	10: 53,698,949 (GRCm38)	A188E	probably benign	Het
Fign	A	G	2: 63,979,688 (GRCm38)	S413P	probably damaging	Het
Fkbp6	A	G	5: 135,349,696 (GRCm38)	S33P	probably damaging	Het
Glb1	A	G	9: 114,450,677 (GRCm38)		probably benign	Het
H2-Q1	T	C	17: 35,323,461 (GRCm38)		probably benign	Het
Helz2	T	C	2: 181,233,977 (GRCm38)	T1575A	probably damaging	Het
Il18r1	A	G	1: 40,474,730 (GRCm38)	E32G	probably damaging	Het
Ints5	C	T	19: 8,895,487 (GRCm38)	P270L	possibly damaging	Het
Itga7	G	T	10: 128,949,468 (GRCm38)	E847*	probably null	Het
Kcns3	A	C	12: 11,091,643 (GRCm38)	S352A	possibly damaging	Het
Kiz	A	G	2: 146,863,801 (GRCm38)	K94E	probably benign	Het
Lin7b	C	T	7: 45,369,200 (GRCm38)	V12M	probably damaging	Het
Myo18b	A	T	5: 112,811,704 (GRCm38)	I1409N	probably damaging	Het
Myo5b	A	G	18: 74,644,090 (GRCm38)	H407R	probably damaging	Het
Nelfa	T	C	5: 33,898,802 (GRCm38)	T506A	probably damaging	Het
Olfr497	T	A	7: 108,423,028 (GRCm38)	Y152*	probably null	Het
Olfr763	A	G	10: 129,011,860 (GRCm38)	T192A	probably damaging	Het
Olfr816	A	G	10: 129,912,245 (GRCm38)	I11T	possibly damaging	Het
Olfr984	A	T	9: 40,101,082 (GRCm38)	M136K	probably damaging	Het
Pclo	A	C	5: 14,676,394 (GRCm38)		probably benign	Het
Pes1	G	A	11: 3,977,979 (GRCm38)	E544K	possibly damaging	Het
Rabgap1l	A	G	1: 160,740,745 (GRCm38)		probably benign	Het
Rapgef2	T	C	3: 79,068,937 (GRCm38)	M1521V	probably benign	Het
Rapgef2	C	T	3: 79,103,962 (GRCm38)		probably null	Het
Reln	A	G	5: 22,040,405 (GRCm38)	V735A	probably benign	Het
Slc2a4	A	G	11: 69,945,076 (GRCm38)	S316P	possibly damaging	Het
Smarce1	C	T	11: 99,210,187 (GRCm38)	G373E	possibly damaging	Het
Spata31d1a	T	A	13: 59,701,559 (GRCm38)	R918S	probably benign	Het
St3gal4	T	C	9: 35,052,331 (GRCm38)	K227R	probably benign	Het
Stra6l	T	A	4: 45,864,864 (GRCm38)		probably null	Het
Stxbp5l	T	C	16: 37,215,979 (GRCm38)	I425V	probably damaging	Het
Tcaf2	T	C	6: 42,630,328 (GRCm38)	T231A	probably benign	Het
Tiparp	G	T	3: 65,552,609 (GRCm38)	G442*	probably null	Het
Tnks	A	G	8: 34,839,982 (GRCm38)	Y1138H	probably damaging	Het
Vezt	T	A	10: 93,996,857 (GRCm38)	I231F	probably damaging	Het
Vmn2r4	A	T	3: 64,406,395 (GRCm38)	N388K	probably damaging	Het
Zbed3	A	G	13: 95,336,634 (GRCm38)	K189E	possibly damaging	Het
Zfp512b	T	C	2: 181,587,785 (GRCm38)	T625A	possibly damaging	Het
Zfp827	A	T	8: 79,060,733 (GRCm38)	Q176L	possibly damaging	Het

Other mutations in 4931414P19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:4931414P19Rik	APN	14	54,595,578 (GRCm38)	missense	possibly damaging	0.56
IGL01934:4931414P19Rik	APN	14	54,585,655 (GRCm38)	missense	probably damaging	1.00
IGL02194:4931414P19Rik	APN	14	54,591,355 (GRCm38)	nonsense	probably null
IGL02721:4931414P19Rik	APN	14	54,585,745 (GRCm38)	missense	probably damaging	1.00
IGL03124:4931414P19Rik	APN	14	54,595,139 (GRCm38)	missense	probably benign	0.00
R0575:4931414P19Rik	UTSW	14	54,591,252 (GRCm38)	missense	possibly damaging	0.62
R2049:4931414P19Rik	UTSW	14	54,584,987 (GRCm38)	nonsense	probably null
R3829:4931414P19Rik	UTSW	14	54,584,509 (GRCm38)	missense	probably damaging	1.00
R3876:4931414P19Rik	UTSW	14	54,591,400 (GRCm38)	nonsense	probably null
R4392:4931414P19Rik	UTSW	14	54,584,978 (GRCm38)	critical splice donor site	probably null
R4680:4931414P19Rik	UTSW	14	54,585,076 (GRCm38)	missense	probably damaging	1.00
R4805:4931414P19Rik	UTSW	14	54,595,454 (GRCm38)	missense	probably benign	0.00
R4940:4931414P19Rik	UTSW	14	54,591,325 (GRCm38)	missense	probably benign
R5091:4931414P19Rik	UTSW	14	54,585,711 (GRCm38)	missense	probably damaging	1.00
R5291:4931414P19Rik	UTSW	14	54,585,937 (GRCm38)	missense	probably damaging	1.00
R5594:4931414P19Rik	UTSW	14	54,584,984 (GRCm38)	missense	probably damaging	1.00
R6815:4931414P19Rik	UTSW	14	54,591,153 (GRCm38)	missense	probably damaging	1.00
R7031:4931414P19Rik	UTSW	14	54,595,601 (GRCm38)	missense	probably benign	0.23
R7229:4931414P19Rik	UTSW	14	54,595,352 (GRCm38)	missense	probably benign	0.00
R7616:4931414P19Rik	UTSW	14	54,585,666 (GRCm38)	missense	probably damaging	1.00

Posted On

2013-11-11