Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01744:D130052B06Rik'

152960

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

D130052B06Rik

Ensembl Gene

ENSMUSG00000073052

Gene Name

RIKEN cDNA D130052B06 gene

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.392) question?

Stock #

IGL01744

Quality Score

Status

Chromosome

Chromosomal Location

33557803-33575315 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33573966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 188 (S188G)

Ref Sequence

ENSEMBL: ENSMUSP00000098922 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101371]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000101371
AA Change: S188G

SMART Domains

Protein: ENSMUSP00000098922
Gene: ENSMUSG00000073052
AA Change: S188G

Domain	Start	End	E-Value	Type
low complexity region	1	12	N/A	INTRINSIC
low complexity region	20	28	N/A	INTRINSIC
internal_repeat_2	36	101	5.51e-11	PROSPERO
internal_repeat_1	68	122	4.83e-23	PROSPERO
internal_repeat_2	99	175	5.51e-11	PROSPERO
internal_repeat_1	122	176	4.83e-23	PROSPERO

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	C	7: 12,284,459 (GRCm39)	I102T	possibly damaging	Het
4933412E24Rik	C	A	15: 59,887,424 (GRCm39)	A339S	possibly damaging	Het
Ackr2	A	G	9: 121,738,185 (GRCm39)	T187A	probably benign	Het
Adam28	A	G	14: 68,844,956 (GRCm39)	V777A	probably benign	Het
Add3	T	A	19: 53,227,861 (GRCm39)	D515E	probably damaging	Het
Aire	C	A	10: 77,872,557 (GRCm39)	E354*	probably null	Het
AW551984	T	C	9: 39,502,568 (GRCm39)	K670R	probably benign	Het
Bahcc1	T	C	11: 120,162,563 (GRCm39)	V287A	probably benign	Het
Brca1	T	C	11: 101,415,002 (GRCm39)	N1044S	possibly damaging	Het
Bub1b	T	A	2: 118,467,230 (GRCm39)	I851N	probably damaging	Het
Ceacam11	A	T	7: 17,707,323 (GRCm39)	I36F	possibly damaging	Het
Copa	A	G	1: 171,940,756 (GRCm39)	E714G	probably benign	Het
Cth	A	T	3: 157,630,572 (GRCm39)	N32K	probably benign	Het
Cyp2a5	T	A	7: 26,540,434 (GRCm39)	M349K	probably damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Flt1	T	C	5: 147,508,271 (GRCm39)	N1161S	probably benign	Het
Hip1	T	C	5: 135,573,917 (GRCm39)		probably benign	Het
Mapk11	A	G	15: 89,031,046 (GRCm39)		probably benign	Het
Mtif2	A	G	11: 29,494,417 (GRCm39)		probably benign	Het
Myo1f	C	A	17: 33,802,654 (GRCm39)		probably benign	Het
Nipsnap1	G	A	11: 4,839,912 (GRCm39)	R211H	probably damaging	Het
Or52ab4	A	G	7: 102,987,435 (GRCm39)	H58R	probably damaging	Het
Or6c35	T	C	10: 129,169,326 (GRCm39)	I192T	probably benign	Het
Pcdh1	A	T	18: 38,336,302 (GRCm39)	I111N	probably damaging	Het
Piezo2	T	A	18: 63,175,859 (GRCm39)	I1841F	probably damaging	Het
Pirb	G	T	7: 3,720,175 (GRCm39)	Y399*	probably null	Het
Ppp1r36	A	T	12: 76,486,006 (GRCm39)	N388I	possibly damaging	Het
Prr16	A	G	18: 51,436,061 (GRCm39)	D180G	possibly damaging	Het
Prss39	A	G	1: 34,541,280 (GRCm39)		probably null	Het
Spopfm2	T	A	3: 94,083,544 (GRCm39)	K89M	probably damaging	Het
Trank1	T	A	9: 111,178,431 (GRCm39)	V373D	probably damaging	Het
Ubn1	A	G	16: 4,889,923 (GRCm39)	E186G	probably damaging	Het
Zmym2	T	C	14: 57,184,029 (GRCm39)	V997A	probably benign	Het

Other mutations in D130052B06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:D130052B06Rik	APN	11	33,573,558 (GRCm39)	missense	possibly damaging	0.62
IGL00508:D130052B06Rik	APN	11	33,549,402 (GRCm39)	missense	unknown
IGL01152:D130052B06Rik	APN	11	33,573,620 (GRCm39)	splice site	probably null
IGL02829:D130052B06Rik	APN	11	33,573,864 (GRCm39)	missense	probably benign	0.16
IGL02882:D130052B06Rik	APN	11	33,573,780 (GRCm39)	missense	probably damaging	0.99
R0396:D130052B06Rik	UTSW	11	33,573,391 (GRCm39)	missense	unknown
R0571:D130052B06Rik	UTSW	11	33,573,922 (GRCm39)	missense	probably benign	0.00
R1467:D130052B06Rik	UTSW	11	33,573,622 (GRCm39)	splice site	probably benign
R1706:D130052B06Rik	UTSW	11	33,566,230 (GRCm39)	missense	unknown
R1733:D130052B06Rik	UTSW	11	33,573,784 (GRCm39)	missense	probably benign	0.16
R6029:D130052B06Rik	UTSW	11	33,573,477 (GRCm39)	missense	possibly damaging	0.62
R6045:D130052B06Rik	UTSW	11	33,574,008 (GRCm39)	missense	unknown
R6269:D130052B06Rik	UTSW	11	33,573,916 (GRCm39)	missense	possibly damaging	0.92
R7238:D130052B06Rik	UTSW	11	33,573,594 (GRCm39)	missense	probably benign	0.01
R7240:D130052B06Rik	UTSW	11	33,573,874 (GRCm39)	missense	possibly damaging	0.79
R7305:D130052B06Rik	UTSW	11	33,573,355 (GRCm39)	frame shift	probably null
R9013:D130052B06Rik	UTSW	11	33,573,491 (GRCm39)	missense	unknown

Posted On

2014-02-04