Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00508:D130052B06Rik'

332527

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: 0.386) question?

Stock #

IGL00508

Quality Score

Status

Chromosome

Chromosomal Location

33557803-33575315 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33549402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 7 (E7G)

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: E7G

SMART Domains

Protein: ENSMUSP00000098922
Gene: ENSMUSG00000073052
AA Change: E7G

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	C	13: 81,654,306 (GRCm39)	D2188E	probably damaging	Het
Atrx	A	G	X: 104,867,405 (GRCm39)	S2026P	probably damaging	Het
Cacna1b	A	C	2: 24,547,301 (GRCm39)		probably null	Het
Cfap46	C	T	7: 139,240,605 (GRCm39)	S56N	probably damaging	Het
Cfap57	C	T	4: 118,438,367 (GRCm39)		probably null	Het
Ckap5	T	G	2: 91,436,601 (GRCm39)	V1567G	probably damaging	Het
Cyp2c38	A	T	19: 39,449,169 (GRCm39)	Y61*	probably null	Het
Dhx38	A	G	8: 110,283,566 (GRCm39)	L527P	possibly damaging	Het
Dnaaf5	A	G	5: 139,163,701 (GRCm39)	N653D	probably benign	Het
Dnah8	T	G	17: 31,074,904 (GRCm39)	M4541R	probably damaging	Het
Dpyd	A	T	3: 118,858,636 (GRCm39)	T617S	probably benign	Het
Fpr2	A	T	17: 18,113,034 (GRCm39)	N10I	probably damaging	Het
Frmd4a	A	T	2: 4,599,545 (GRCm39)	K524*	probably null	Het
Gpr45	C	T	1: 43,071,452 (GRCm39)	P32S	possibly damaging	Het
H2-Eb2	A	T	17: 34,553,341 (GRCm39)	I176F	probably damaging	Het
Hcrtr1	T	A	4: 130,031,062 (GRCm39)	N74I	probably damaging	Het
Ifi47	C	T	11: 48,986,241 (GRCm39)	Q3*	probably null	Het
Krt8	T	A	15: 101,906,460 (GRCm39)	M350L	probably benign	Het
Lilra6	A	G	7: 3,914,553 (GRCm39)	S533P	probably benign	Het
Map1b	A	T	13: 99,565,741 (GRCm39)	S2327T	unknown	Het
Mcoln3	T	A	3: 145,839,683 (GRCm39)	I345N	probably damaging	Het
Mettl3	C	A	14: 52,532,436 (GRCm39)		probably benign	Het
Mgat4a	G	A	1: 37,488,204 (GRCm39)	R472*	probably null	Het
Micall1	A	G	15: 79,014,768 (GRCm39)	K715E	probably damaging	Het
Pak1	G	T	7: 97,503,775 (GRCm39)	G37C	probably benign	Het
Pomt2	T	G	12: 87,166,401 (GRCm39)	H426P	probably damaging	Het
Pou2f3	G	A	9: 43,051,258 (GRCm39)	P155S	probably benign	Het
Psg25	A	G	7: 18,263,656 (GRCm39)	Y56H	probably benign	Het
Rab9	G	T	X: 165,240,860 (GRCm39)	Y150*	probably null	Het
Rhox2g	T	A	X: 36,824,463 (GRCm39)	N152I	probably damaging	Het
Sema6d	T	C	2: 124,498,844 (GRCm39)		probably benign	Het
Simc1	C	A	13: 54,672,989 (GRCm39)	Q446K	probably benign	Het
Svs5	G	T	2: 164,078,962 (GRCm39)	T315K	possibly damaging	Het
Syt9	C	T	7: 107,024,574 (GRCm39)	R156*	probably null	Het
Tmem260	A	T	14: 48,746,578 (GRCm39)	Y618F	probably damaging	Het
Wdr44	A	G	X: 23,666,783 (GRCm39)	I719V	possibly damaging	Het
Zfp518a	T	G	19: 40,901,914 (GRCm39)	I614M	probably damaging	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
IGL01152:D130052B06Rik	APN	11	33,573,620 (GRCm39)	splice site	probably null
IGL01744:D130052B06Rik	APN	11	33,573,966 (GRCm39)	missense	unknown
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

2015-08-05