Mutagenetix > Incidental Mutation

Incidental Mutation 'R4480:D130040H23Rik'

331429

Institutional Source

Beutler Lab

Gene Symbol

D130040H23Rik

Ensembl Gene

ENSMUSG00000079038

Gene Name

RIKEN cDNA D130040H23 gene

Synonyms

MMRRC Submission

041737-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R4480 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69723732-69766859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 69755155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 187 (H187N)

Ref Sequence

ENSEMBL: ENSMUSP00000077378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078257] [ENSMUST00000212549]

AlphaFold

Q8BII3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078257
AA Change: H187N

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000077378
Gene: ENSMUSG00000079038
AA Change: H187N

Domain	Start	End	E-Value	Type
internal_repeat_1	2	170	4.27e-17	PROSPERO
internal_repeat_1	199	366	4.27e-17	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212443

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212549
AA Change: T204K

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

95% (40/42)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,654,663 (GRCm39)	T553A	possibly damaging	Het
Adgrb3	A	T	1: 25,150,829 (GRCm39)	F1135I	probably damaging	Het
Arfgef3	A	T	10: 18,476,348 (GRCm39)	F1490L	probably damaging	Het
Begain	A	G	12: 109,000,049 (GRCm39)	Y446H	probably damaging	Het
Cdh15	A	G	8: 123,591,415 (GRCm39)	H517R	probably benign	Het
Cemip2	A	G	19: 21,792,853 (GRCm39)	Q703R	probably benign	Het
Dip2b	C	T	15: 100,084,182 (GRCm39)	T935M	probably damaging	Het
Eif2s2	T	C	2: 154,730,190 (GRCm39)	T36A	probably benign	Het
Eif4g1	G	T	16: 20,497,593 (GRCm39)		probably benign	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fbxo10	T	C	4: 45,048,470 (GRCm39)	Y555C	probably damaging	Het
Fpr2	C	T	17: 18,114,015 (GRCm39)	T337I	probably benign	Het
Frem3	A	T	8: 81,337,986 (GRCm39)	Q93L	probably benign	Het
Gapdh	A	G	6: 125,140,145 (GRCm39)	V119A	possibly damaging	Het
Gm3159	T	C	14: 4,398,584 (GRCm38)	Y92H	probably damaging	Het
Hkdc1	T	C	10: 62,227,151 (GRCm39)	I769V	probably benign	Het
Ifne	T	C	4: 88,797,838 (GRCm39)	*193W	probably null	Het
Katna1	T	C	10: 7,614,594 (GRCm39)	V32A	probably damaging	Het
Nup107	T	C	10: 117,597,237 (GRCm39)	I673V	probably benign	Het
Nup188	T	A	2: 30,212,141 (GRCm39)		probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or10g1	G	A	14: 52,647,765 (GRCm39)	A188V	probably damaging	Het
Or2t48	G	T	11: 58,420,627 (GRCm39)	P62T	probably damaging	Het
Pcdhb5	T	A	18: 37,453,805 (GRCm39)	S62T	probably benign	Het
Plekha5	T	C	6: 140,472,205 (GRCm39)	V44A	probably damaging	Het
Psg18	C	T	7: 18,084,787 (GRCm39)	S103N	probably benign	Het
Ptprcap	A	G	19: 4,206,223 (GRCm39)	E102G	probably benign	Het
Ptprs	A	G	17: 56,733,404 (GRCm39)	V804A	possibly damaging	Het
Rab35	C	A	5: 115,775,823 (GRCm39)	S34*	probably null	Het
Slco6d1	T	A	1: 98,435,299 (GRCm39)	Y671*	probably null	Het
Sostdc1	A	G	12: 36,367,165 (GRCm39)	I114V	probably damaging	Het
Tecta	A	G	9: 42,284,529 (GRCm39)	F852S	possibly damaging	Het
Tmem179	T	C	12: 112,469,737 (GRCm39)	E21G	probably benign	Het
Usp17la	T	A	7: 104,509,897 (GRCm39)	H167Q	probably benign	Het
Vps8	A	T	16: 21,363,986 (GRCm39)		probably benign	Het
Wdr17	A	G	8: 55,117,999 (GRCm39)		probably null	Het
Wdr73	T	C	7: 80,542,969 (GRCm39)	E213G	probably benign	Het
Zfp985	A	G	4: 147,668,536 (GRCm39)	D468G	probably benign	Het

Other mutations in D130040H23Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00905:D130040H23Rik	APN	8	69,753,422 (GRCm39)	missense	possibly damaging	0.59
R0164:D130040H23Rik	UTSW	8	69,755,195 (GRCm39)	missense	possibly damaging	0.61
R0164:D130040H23Rik	UTSW	8	69,755,195 (GRCm39)	missense	possibly damaging	0.61
R0269:D130040H23Rik	UTSW	8	69,753,446 (GRCm39)	missense	probably benign	0.00
R1534:D130040H23Rik	UTSW	8	69,755,378 (GRCm39)	missense	possibly damaging	0.62
R1565:D130040H23Rik	UTSW	8	69,755,812 (GRCm39)	makesense	probably null
R1648:D130040H23Rik	UTSW	8	69,755,633 (GRCm39)	missense	probably benign	0.04
R1869:D130040H23Rik	UTSW	8	69,755,354 (GRCm39)	missense	probably benign	0.22
R1870:D130040H23Rik	UTSW	8	69,755,354 (GRCm39)	missense	probably benign	0.22
R1871:D130040H23Rik	UTSW	8	69,755,354 (GRCm39)	missense	probably benign	0.22
R2025:D130040H23Rik	UTSW	8	69,755,525 (GRCm39)	missense	probably benign	0.29
R3418:D130040H23Rik	UTSW	8	69,755,579 (GRCm39)	missense	probably benign	0.27
R3810:D130040H23Rik	UTSW	8	69,755,022 (GRCm39)	missense	probably damaging	1.00
R3896:D130040H23Rik	UTSW	8	69,755,610 (GRCm39)	missense	probably damaging	1.00
R4477:D130040H23Rik	UTSW	8	69,755,155 (GRCm39)	missense	possibly damaging	0.95
R4478:D130040H23Rik	UTSW	8	69,755,155 (GRCm39)	missense	possibly damaging	0.95
R4479:D130040H23Rik	UTSW	8	69,755,155 (GRCm39)	missense	possibly damaging	0.95
R6849:D130040H23Rik	UTSW	8	69,755,303 (GRCm39)	nonsense	probably null
R7121:D130040H23Rik	UTSW	8	69,754,931 (GRCm39)	missense	probably damaging	0.99
R7821:D130040H23Rik	UTSW	8	69,752,887 (GRCm39)	splice site	probably null
R8269:D130040H23Rik	UTSW	8	69,755,800 (GRCm39)	missense	probably benign	0.00
R8747:D130040H23Rik	UTSW	8	69,755,705 (GRCm39)	missense	probably benign	0.00
R8946:D130040H23Rik	UTSW	8	69,755,033 (GRCm39)	missense	possibly damaging	0.70
R9095:D130040H23Rik	UTSW	8	69,755,748 (GRCm39)	frame shift	probably null
R9776:D130040H23Rik	UTSW	8	69,755,566 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCCTATGAATGTAATCAGTGTG -3'
(R):5'- ATTTGTAGGGGTTCTCTCCAGT -3'

Sequencing Primer
(F):5'- GTGCTAAAGCCTTTTCACAACAGAG -3'
(R):5'- GTGATGTGCAAAGGTCTTACCAC -3'

Posted On

2015-07-21