Mutagenetix > Incidental Mutation

Incidental Mutation 'R3810:D130040H23Rik'

275162

Institutional Source

Beutler Lab

Gene Symbol

D130040H23Rik

Ensembl Gene

ENSMUSG00000079038

Gene Name

RIKEN cDNA D130040H23 gene

Synonyms

MMRRC Submission

040880-MU

Accession Numbers

Essential gene?

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

Stock #

R3810 (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 69755022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 160 (C160S)

Ref Sequence

ENSEMBL: ENSMUSP00000148399 (fasta)

Gene Model

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

AlphaFold

Q8BII3

Predicted Effect

probably damaging
Transcript: ENSMUST00000078257
AA Change: N142K

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

SMART Domains

Protein: ENSMUSP00000077378
Gene: ENSMUSG00000079038
AA Change: N142K

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: C160S

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd6	T	A	14: 8,045,603 (GRCm38)	V173D	probably benign	Het
Agbl3	G	T	6: 34,776,664 (GRCm39)	S385I	probably damaging	Het
Ahcyl2	A	G	6: 29,891,260 (GRCm39)	I455V	probably benign	Het
Bpifb2	T	A	2: 153,733,871 (GRCm39)	D404E	probably benign	Het
Ctbp1	A	G	5: 33,424,389 (GRCm39)		probably benign	Het
Dapk1	T	C	13: 60,908,503 (GRCm39)	W1039R	probably damaging	Het
Dock6	T	C	9: 21,712,873 (GRCm39)	K1995E	probably damaging	Het
Entpd3	A	G	9: 120,391,068 (GRCm39)	E440G	probably benign	Het
Gm20939	G	A	17: 95,184,138 (GRCm39)	R262K	possibly damaging	Het
Gm9637	A	T	14: 19,402,398 (GRCm38)		noncoding transcript	Het
Gm9847	T	C	12: 14,545,148 (GRCm39)		noncoding transcript	Het
H2-Q6	A	G	17: 35,644,757 (GRCm39)	E182G	probably damaging	Het
Has1	T	C	17: 18,067,822 (GRCm39)	Y356C	probably damaging	Het
Hivep2	A	G	10: 14,006,101 (GRCm39)	T900A	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Klhl35	A	G	7: 99,119,448 (GRCm39)	D311G	probably benign	Het
Metap2	A	T	10: 93,706,026 (GRCm39)	L252*	probably null	Het
Mrgpra9	T	A	7: 46,885,527 (GRCm39)	I47F	probably damaging	Het
Muc5b	T	C	7: 141,417,863 (GRCm39)	L3603P	possibly damaging	Het
Neurl4	A	G	11: 69,794,859 (GRCm39)	H323R	probably damaging	Het
Oas1d	A	T	5: 121,053,049 (GRCm39)	I35F	probably damaging	Het
Or4c124	G	A	2: 89,156,098 (GRCm39)	T142M	probably benign	Het
Or4c12b	T	A	2: 89,647,395 (GRCm39)	S242T	probably damaging	Het
Or5w18	C	T	2: 87,633,396 (GRCm39)	S221F	possibly damaging	Het
Or5w19	T	A	2: 87,698,745 (GRCm39)	S137T	probably damaging	Het
Orc6	T	A	8: 86,026,613 (GRCm39)	S19R	probably benign	Het
Pcdh12	T	C	18: 38,414,290 (GRCm39)	E945G	probably damaging	Het
Plekha6	A	G	1: 133,201,717 (GRCm39)	M377V	probably benign	Het
Psmd1	T	A	1: 86,060,437 (GRCm39)	V828D	probably damaging	Het
Rbbp5	T	C	1: 132,420,325 (GRCm39)	V59A	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Tas2r130	A	G	6: 131,607,792 (GRCm39)	M1T	probably null	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trgv2	T	C	13: 19,521,011 (GRCm39)	T28A	possibly damaging	Het
Trpc4ap	T	A	2: 155,485,355 (GRCm39)	I448F	probably damaging	Het
Ttc21b	C	T	2: 66,082,577 (GRCm39)		probably null	Het
Txndc5	T	C	13: 38,707,381 (GRCm39)	K99E	probably benign	Het
Uvrag	A	G	7: 98,628,919 (GRCm39)	Y383H	probably damaging	Het
Vim	T	C	2: 13,583,563 (GRCm39)		probably null	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
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
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'- GCCTTTGCACAACACAGTC -3'
(R):5'- ATGTGCAAAGGCTTTACCACATTG -3'

Sequencing Primer
(F):5'- ACAGTCATCTTCAAGGGCATG -3'
(R):5'- GCATTGATAAGGTTTCTCTCCAG -3'

Posted On

2015-04-02