Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02829:D130052B06Rik'

361329

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 #

IGL02829

Quality Score

Status

Chromosome

Chromosomal Location

33557803-33575315 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 33573864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 154 (T154P)

Ref Sequence

ENSEMBL: ENSMUSP00000098922 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000101371
AA Change: T154P

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000098922
Gene: ENSMUSG00000073052
AA Change: T154P

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bbs9	A	G	9: 22,490,780 (GRCm39)	T303A	probably damaging	Het
Bet1	T	A	6: 4,086,795 (GRCm39)	M1L	probably benign	Het
Bicc1	A	C	10: 70,794,710 (GRCm39)	V149G	probably damaging	Het
Braf	C	A	6: 39,604,662 (GRCm39)	L655F	possibly damaging	Het
Cd101	A	G	3: 100,925,881 (GRCm39)		probably benign	Het
Cobll1	T	C	2: 64,956,389 (GRCm39)	K290E	probably damaging	Het
Col6a5	A	T	9: 105,811,506 (GRCm39)	I671K	unknown	Het
Dglucy	A	C	12: 100,837,663 (GRCm39)	H602P	probably damaging	Het
Fbxo34	A	G	14: 47,767,146 (GRCm39)	I220V	probably benign	Het
Gm42878	A	G	5: 121,675,266 (GRCm39)	V101A	probably damaging	Het
Gsdmc4	A	G	15: 63,764,497 (GRCm39)	L381P	probably benign	Het
Ifi208	C	A	1: 173,510,406 (GRCm39)	P187H	probably damaging	Het
Lrrc37a	A	T	11: 103,382,000 (GRCm39)	C2473S	unknown	Het
Miip	T	A	4: 147,947,518 (GRCm39)	N214I	probably benign	Het
Mrc2	A	G	11: 105,227,533 (GRCm39)	T589A	possibly damaging	Het
Mtss1	A	G	15: 58,930,277 (GRCm39)		probably benign	Het
Mypn	T	C	10: 63,028,365 (GRCm39)	R233G	probably benign	Het
Naip6	A	T	13: 100,437,273 (GRCm39)	C417S	probably benign	Het
Or13f5	C	T	4: 52,826,027 (GRCm39)	P210L	probably damaging	Het
Or4c111	A	C	2: 88,844,021 (GRCm39)	L129W	probably damaging	Het
Or8k37	T	A	2: 86,469,599 (GRCm39)	Y151F	possibly damaging	Het
Pcsk1	T	C	13: 75,274,955 (GRCm39)	Y515H	probably damaging	Het
Pla2g2e	T	A	4: 138,607,747 (GRCm39)	Y42*	probably null	Het
Polh	A	T	17: 46,483,828 (GRCm39)	L479Q	possibly damaging	Het
Prr36	T	A	8: 4,265,278 (GRCm39)	R157S	possibly damaging	Het
Reck	T	A	4: 43,891,014 (GRCm39)	C51S	probably damaging	Het
Rev3l	A	G	10: 39,701,236 (GRCm39)	D1911G	probably damaging	Het
Scgb1b27	A	T	7: 33,721,173 (GRCm39)		probably null	Het
Sema4g	G	A	19: 44,981,188 (GRCm39)	R47Q	possibly damaging	Het
Serinc1	A	T	10: 57,400,061 (GRCm39)	Y158*	probably null	Het
Slc15a2	C	A	16: 36,577,555 (GRCm39)	G435C	possibly damaging	Het
Tbc1d17	C	A	7: 44,498,296 (GRCm39)		probably benign	Het
Tenm4	C	T	7: 96,544,205 (GRCm39)	Q2074*	probably null	Het
Tns3	A	G	11: 8,469,564 (GRCm39)	C244R	probably damaging	Het
Vmn2r2	A	T	3: 64,026,172 (GRCm39)		probably benign	Het
Vmn2r44	T	A	7: 8,380,879 (GRCm39)	Q338L	possibly damaging	Het
Wdr70	C	T	15: 8,006,463 (GRCm39)	D363N	possibly damaging	Het
Yipf7	A	T	5: 69,698,434 (GRCm39)	S24R	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
IGL01744:D130052B06Rik	APN	11	33,573,966 (GRCm39)	missense	unknown
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

2015-12-18