Mutagenetix > Incidental Mutation

Incidental Mutation 'R3874:D630039A03Rik'

276710

Institutional Source

Beutler Lab

Gene Symbol

D630039A03Rik

Ensembl Gene

ENSMUSG00000052117

Gene Name

RIKEN cDNA D630039A03 gene

Synonyms

MMRRC Submission

040792-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R3874 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57908483-57916297 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57910606 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 69 (T69S)

Ref Sequence

ENSEMBL: ENSMUSP00000068932 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063816]

AlphaFold

Q8K0M7

Predicted Effect

probably benign
Transcript: ENSMUST00000063816
AA Change: T69S

PolyPhen 2 Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130213A22Rik	C	A	11: 69,121,475 (GRCm38)	G26*	probably null	Het
Abca5	T	A	11: 110,310,233 (GRCm38)	Y447F	probably damaging	Het
Acox2	A	G	14: 8,248,061 (GRCm38)	I407T	probably benign	Het
Adam8	T	C	7: 139,987,607 (GRCm38)	N408D	probably damaging	Het
Adgre1	A	T	17: 57,401,925 (GRCm38)	T39S	probably benign	Het
Akap12	G	A	10: 4,357,590 (GRCm38)	V1467I	probably benign	Het
Arid1b	T	A	17: 5,336,515 (GRCm38)		probably null	Het
Atp2c2	A	G	8: 119,735,296 (GRCm38)	I303V	possibly damaging	Het
Bpifc	C	T	10: 85,991,254 (GRCm38)	V144I	probably benign	Het
Camk4	A	G	18: 33,158,854 (GRCm38)	E189G	possibly damaging	Het
Casz1	A	G	4: 148,939,589 (GRCm38)		probably benign	Het
Ccdc134	T	C	15: 82,131,442 (GRCm38)	V41A	possibly damaging	Het
Chrd	A	T	16: 20,738,910 (GRCm38)	T753S	probably damaging	Het
Cracd	A	G	5: 76,840,892 (GRCm38)	D30G	probably damaging	Het
Cyb561a3	T	C	19: 10,585,371 (GRCm38)	V125A	probably benign	Het
Dchs1	A	G	7: 105,761,635 (GRCm38)	F1687S	probably damaging	Het
Dlgap4	T	C	2: 156,749,347 (GRCm38)	S818P	probably benign	Het
Dnah2	A	G	11: 69,429,348 (GRCm38)	I3965T	probably damaging	Het
Dnai2	G	T	11: 114,732,955 (GRCm38)	G15W	probably damaging	Het
Dsg1c	A	G	18: 20,277,052 (GRCm38)	I526V	probably benign	Het
Far2	G	A	6: 148,150,591 (GRCm38)	E123K	probably benign	Het
Gli1	A	T	10: 127,330,219 (GRCm38)	V1055E	probably damaging	Het
Hand2	G	T	8: 57,321,976 (GRCm38)	A24S	probably benign	Het
Helb	T	C	10: 120,106,037 (GRCm38)	I249V	probably benign	Het
Hspa4l	G	A	3: 40,772,642 (GRCm38)	V492M	probably damaging	Het
Hspg2	T	C	4: 137,539,349 (GRCm38)	I1916T	probably damaging	Het
Igfals	G	A	17: 24,881,605 (GRCm38)	V557I	possibly damaging	Het
Itpa	T	G	2: 130,681,010 (GRCm38)	S176A	probably damaging	Het
Kcnu1	T	A	8: 25,885,317 (GRCm38)	L353H	probably damaging	Het
Klhl1	A	G	14: 96,518,179 (GRCm38)	F47L	probably benign	Het
Klhl13	T	C	X: 23,285,176 (GRCm38)	D21G	probably benign	Het
Krt26	T	C	11: 99,334,744 (GRCm38)	K304E	probably damaging	Het
Krt9	C	T	11: 100,190,849 (GRCm38)	V285I	probably damaging	Het
Mansc1	T	C	6: 134,610,183 (GRCm38)	R344G	possibly damaging	Het
Mier2	G	T	10: 79,541,797 (GRCm38)	P439T	possibly damaging	Het
Mppe1	T	A	18: 67,225,886 (GRCm38)		probably null	Het
Nedd4l	G	A	18: 65,167,535 (GRCm38)	A243T	probably benign	Het
Notch4	T	A	17: 34,578,069 (GRCm38)	C934*	probably null	Het
Nsmce3	C	T	7: 64,872,168 (GRCm38)	D251N	probably damaging	Het
Or10a49	C	T	7: 108,869,128 (GRCm38)	V9M	probably damaging	Het
Or12d12	T	A	17: 37,299,979 (GRCm38)	T148S	probably benign	Het
Or3a10	A	G	11: 74,044,699 (GRCm38)	C192R	probably damaging	Het
Or4f6	T	C	2: 112,008,323 (GRCm38)	T288A	possibly damaging	Het
Or5l13	T	A	2: 87,949,530 (GRCm38)	R234S	probably damaging	Het
Or8g23	A	G	9: 39,060,174 (GRCm38)	I164T	probably benign	Het
Pdzd7	T	C	19: 45,045,628 (GRCm38)	T6A	probably benign	Het
Picalm	T	A	7: 90,189,219 (GRCm38)	F493Y	probably damaging	Het
Prl7d1	A	G	13: 27,716,668 (GRCm38)	M1T	probably null	Het
Prl8a1	T	C	13: 27,575,458 (GRCm38)	K199E	possibly damaging	Het
Rims1	C	T	1: 22,428,489 (GRCm38)	R764H	probably damaging	Het
Rnf17	G	T	14: 56,475,413 (GRCm38)	R779L	possibly damaging	Het
Rufy2	T	C	10: 62,998,137 (GRCm38)	L294P	probably damaging	Het
Sgsh	A	G	11: 119,350,947 (GRCm38)	L111P	probably damaging	Het
Slc22a30	G	T	19: 8,336,849 (GRCm38)	T491K	probably benign	Het
Slc35b3	T	C	13: 38,943,068 (GRCm38)	N20D	possibly damaging	Het
Slc5a4a	T	C	10: 76,181,655 (GRCm38)	F429L	probably benign	Het
Sulf1	T	C	1: 12,817,412 (GRCm38)	I270T	probably damaging	Het
Tmem51	T	C	4: 142,031,748 (GRCm38)	T230A	probably damaging	Het
Tnc	T	A	4: 64,008,710 (GRCm38)	I860F	probably damaging	Het
Trh	A	T	6: 92,243,698 (GRCm38)	V61E	possibly damaging	Het
Ttn	T	G	2: 76,754,099 (GRCm38)	T22222P	probably damaging	Het
Uroc1	A	T	6: 90,361,512 (GRCm38)	K652*	probably null	Het
Usp34	C	T	11: 23,489,033 (GRCm38)	P3532S	possibly damaging	Het
Vmn2r120	A	T	17: 57,524,954 (GRCm38)	F278L	probably benign	Het
Vmn2r7	A	G	3: 64,719,611 (GRCm38)	F86L	possibly damaging	Het
Vmn2r87	A	T	10: 130,479,987 (GRCm38)	I70K	possibly damaging	Het
Vps13a	C	T	19: 16,744,953 (GRCm38)	A332T	probably benign	Het
Zfp568	T	A	7: 30,023,396 (GRCm38)	C589S	probably damaging	Het

Other mutations in D630039A03Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01666:D630039A03Rik	APN	4	57,910,570 (GRCm38)	missense	possibly damaging	0.86
IGL02071:D630039A03Rik	APN	4	57,910,309 (GRCm38)	missense	possibly damaging	0.94
IGL03338:D630039A03Rik	APN	4	57,910,509 (GRCm38)	missense	probably benign	0.12
R1828:D630039A03Rik	UTSW	4	57,910,240 (GRCm38)	missense	probably benign	0.02
R2883:D630039A03Rik	UTSW	4	57,910,560 (GRCm38)	missense	probably damaging	1.00
R3875:D630039A03Rik	UTSW	4	57,910,606 (GRCm38)	missense	probably benign	0.27
R4776:D630039A03Rik	UTSW	4	57,910,452 (GRCm38)	missense	possibly damaging	0.72
R5152:D630039A03Rik	UTSW	4	57,910,434 (GRCm38)	missense	probably damaging	1.00
R7003:D630039A03Rik	UTSW	4	57,910,521 (GRCm38)	missense	probably damaging	0.97
R8162:D630039A03Rik	UTSW	4	57,910,525 (GRCm38)	missense	probably benign	0.02
R8875:D630039A03Rik	UTSW	4	57,910,320 (GRCm38)	missense	probably benign	0.01
R9168:D630039A03Rik	UTSW	4	57,910,113 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGGCTCCACAAGGTATCC -3'
(R):5'- AAGAGTGCATGTGCTGGGTC -3'

Sequencing Primer
(F):5'- TTTGAACCAAGCGATGCAGC -3'
(R):5'- CATGTGCTGGGTCATGCG -3'

Posted On

2015-04-06