Mutagenetix > Incidental Mutation

Incidental Mutation 'R3896:D130040H23Rik'

310545

Institutional Source

Beutler Lab

Gene Symbol

D130040H23Rik

Ensembl Gene

ENSMUSG00000079038

Gene Name

RIKEN cDNA D130040H23 gene

Synonyms

MMRRC Submission

040807-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R3896 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69723732-69766859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69755610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 356 (C356S)

Ref Sequence

ENSEMBL: ENSMUSP00000148399 (fasta)

Gene Model

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

AlphaFold

Q8BII3

Predicted Effect

probably benign
Transcript: ENSMUST00000078257
AA Change: N338K

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000077378
Gene: ENSMUSG00000079038
AA Change: N338K

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

probably damaging
Transcript: ENSMUST00000212549
AA Change: C356S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.5036

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	A	T	3: 146,356,868 (GRCm39)	N13K	possibly damaging	Het
Alas1	G	T	9: 106,119,000 (GRCm39)		probably null	Het
Arhgap20	A	T	9: 51,728,137 (GRCm39)	I117F	probably damaging	Het
Asz1	A	G	6: 18,075,766 (GRCm39)	I269T	probably benign	Het
Atp8a2	C	A	14: 60,263,589 (GRCm39)		probably null	Het
Atp8b2	A	T	3: 89,864,626 (GRCm39)	I163K	probably damaging	Het
Casd1	T	A	6: 4,640,980 (GRCm39)	F700L	probably damaging	Het
Ccdc80	A	G	16: 44,916,984 (GRCm39)	D580G	probably benign	Het
Cog7	C	T	7: 121,540,392 (GRCm39)		probably benign	Het
Cyp2c66	T	C	19: 39,130,722 (GRCm39)	V112A	possibly damaging	Het
Emb	A	G	13: 117,409,598 (GRCm39)	*331W	probably null	Het
Enpp3	A	C	10: 24,653,847 (GRCm39)	S703R	possibly damaging	Het
Fam13b	T	C	18: 34,596,008 (GRCm39)		probably benign	Het
Foxp1	T	A	6: 99,052,897 (GRCm39)	Q97L	probably benign	Het
Gdf10	A	T	14: 33,656,438 (GRCm39)	N467Y	probably damaging	Het
Gm29394	C	T	15: 57,912,024 (GRCm39)		probably benign	Het
Gsn	T	C	2: 35,192,650 (GRCm39)	S522P	possibly damaging	Het
Hydin	T	A	8: 111,235,711 (GRCm39)	F1899I	possibly damaging	Het
Ints1	C	A	5: 139,743,399 (GRCm39)	E1658*	probably null	Het
Jakmip2	A	T	18: 43,682,751 (GRCm39)	F691Y	probably benign	Het
Klhl28	A	G	12: 65,004,333 (GRCm39)	F60S	probably damaging	Het
Loxhd1	C	T	18: 77,469,719 (GRCm39)	S992L	possibly damaging	Het
Lrp1b	A	T	2: 40,812,440 (GRCm39)		probably null	Het
Macf1	A	T	4: 123,364,987 (GRCm39)	I3258N	possibly damaging	Het
Map4k2	G	T	19: 6,391,958 (GRCm39)	E91*	probably null	Het
Matcap1	T	A	8: 106,009,920 (GRCm39)	H343L	probably benign	Het
Myo1b	A	T	1: 51,812,420 (GRCm39)	V739E	probably damaging	Het
Naa35	C	T	13: 59,755,109 (GRCm39)	T185I	probably damaging	Het
Or10v9	T	C	19: 11,832,951 (GRCm39)	D122G	probably damaging	Het
Or4c15b	A	G	2: 89,113,441 (GRCm39)	F33S	possibly damaging	Het
Reg4	A	T	3: 98,132,082 (GRCm39)		probably benign	Het
Rnaseh2b	A	C	14: 62,597,906 (GRCm39)		probably benign	Het
Rnf123	G	A	9: 107,946,302 (GRCm39)		probably benign	Het
Scn8a	A	T	15: 100,933,379 (GRCm39)	M1528L	probably benign	Het
Sdr16c5	T	A	4: 4,006,609 (GRCm39)	T228S	probably damaging	Het
Sgo2a	T	C	1: 58,052,805 (GRCm39)	C202R	probably damaging	Het
Slc25a46	A	G	18: 31,716,725 (GRCm39)	L259P	probably damaging	Het
Slc4a4	A	G	5: 89,345,625 (GRCm39)		probably benign	Het
Sox14	G	T	9: 99,757,636 (GRCm39)	H34Q	probably damaging	Het
Syna	T	A	5: 134,587,165 (GRCm39)	K595*	probably null	Het
Taf4	A	G	2: 179,573,807 (GRCm39)	V687A	probably benign	Het
Tmbim7	C	T	5: 3,711,916 (GRCm39)	H54Y	probably benign	Het
Vmn1r212	T	C	13: 23,068,067 (GRCm39)	M89V	probably benign	Het
Vmn1r86	T	C	7: 12,836,093 (GRCm39)	Y261C	probably benign	Het
Xkr4	A	G	1: 3,286,414 (GRCm39)	I592T	probably damaging	Het
Ywhah	A	G	5: 33,184,349 (GRCm39)	Y184C	probably damaging	Het
Zkscan16	C	T	4: 58,946,125 (GRCm39)		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
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
R4480: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'- GTCAATGTGGTAAGACCTTTGC -3'
(R):5'- TTGGCTACAGATCTCACTAAACAC -3'

Sequencing Primer
(F):5'- GTGGTAAGACCTTTGCACATCAC -3'
(R):5'- TGTCCTCAAAGACAACTGTGACATG -3'

Posted On

2015-04-17