Mutagenetix > Incidental Mutation

Incidental Mutation 'R4208:1600015I10Rik'

319021

Institutional Source

Beutler Lab

Gene Symbol

1600015I10Rik

Ensembl Gene

ENSMUSG00000029813

Gene Name

RIKEN cDNA 1600015I10 gene

Synonyms

MMRRC Submission

041037-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R4208 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48929895-48933687 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48931647 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 527 (D527V)

Ref Sequence

ENSEMBL: ENSMUSP00000031837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031837]

AlphaFold

E9Q745

Predicted Effect

probably damaging
Transcript: ENSMUST00000031837
AA Change: D527V

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

SMART Domains

Protein: ENSMUSP00000031837
Gene: ENSMUSG00000029813
AA Change: D527V

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:Cu_amine_oxidN2	50	136	1.7e-25	PFAM
Pfam:Cu_amine_oxidN3	152	252	3.5e-16	PFAM
Pfam:Cu_amine_oxid	306	708	7.1e-94	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158710

Meta Mutation Damage Score

0.9707

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.1%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	C	19: 31,932,660	L284P	probably benign	Het
Abca8b	G	A	11: 109,981,725	Q17*	probably null	Het
Abcc6	A	C	7: 45,986,563	L1020R	probably damaging	Het
Ace2	A	G	X: 164,169,585	I110V	probably benign	Het
Adamts12	A	G	15: 11,071,754	H128R	probably benign	Het
Apol9a	G	C	15: 77,404,396	T257S	probably benign	Het
B4galnt3	A	G	6: 120,215,102	S557P	probably damaging	Het
C3	C	T	17: 57,205,303	D1542N	possibly damaging	Het
Casp12	T	C	9: 5,346,629	L52P	probably damaging	Het
Cep126	C	T	9: 8,100,821	E571K	probably damaging	Het
Cfhr1	A	G	1: 139,547,878		probably benign	Het
Cmah	A	G	13: 24,417,427		probably null	Het
Col10a1	C	T	10: 34,395,543	P504S	probably damaging	Het
Ctnna3	T	A	10: 64,959,778	D758E	probably benign	Het
Cyp2c65	T	C	19: 39,090,655	S393P	probably damaging	Het
Dclk2	A	G	3: 86,830,822		probably null	Het
Dis3	T	G	14: 99,095,316	I227L	probably benign	Het
Efhc2	T	C	X: 17,230,550	N186S	possibly damaging	Het
F13b	G	T	1: 139,516,341	W471L	probably damaging	Het
Fam181a	A	G	12: 103,315,914	D26G	probably damaging	Het
Gabpb2	A	G	3: 95,203,934		probably benign	Het
Gm7293	A	G	9: 51,623,579		noncoding transcript	Het
H3f3a	C	T	1: 180,803,138	R117H	probably benign	Het
Ino80b	G	C	6: 83,122,333	P178R	probably damaging	Het
Kif3b	G	A	2: 153,323,557	R628Q	probably damaging	Het
Lars	T	C	18: 42,229,703	E557G	probably benign	Het
Ldlrad3	C	T	2: 101,953,162	D240N	probably damaging	Het
Lingo2	T	C	4: 35,709,810	I57V	probably benign	Het
Lsr	A	G	7: 30,973,094	I27T	probably benign	Het
Me2	T	C	18: 73,791,085	K352R	probably benign	Het
Met	T	C	6: 17,548,729	V924A	possibly damaging	Het
Mpp3	T	C	11: 102,000,600	T571A	probably benign	Het
Olfr1231	A	T	2: 89,302,926	I222N	probably damaging	Het
Olfr665	A	G	7: 104,881,603	T299A	probably damaging	Het
Padi1	C	A	4: 140,817,227	V552L	possibly damaging	Het
Pfkfb1	A	T	X: 150,622,188	D208V	possibly damaging	Het
Rnase4	A	G	14: 51,105,005	K62R	probably benign	Het
RP24-126A19.1	C	A	5: 146,895,796	R123L	noncoding transcript	Het
Scn10a	T	A	9: 119,616,776	E1438V	probably damaging	Het
Sfmbt2	T	A	2: 10,542,982	D458E	probably damaging	Het
Slitrk3	T	A	3: 73,051,157	Y94F	possibly damaging	Het
Sstr2	A	C	11: 113,624,656	T134P	probably damaging	Het
Steap4	A	G	5: 7,980,404	Y420C	probably damaging	Het
Tamm41	AGGG	AGG	6: 115,012,359		probably benign	Het
Trav7-3	A	G	14: 53,443,746	T82A	probably benign	Het
Trbv23	A	T	6: 41,216,088	I6F	probably benign	Het
Vmn1r87	A	G	7: 13,132,258	V34A	probably benign	Het
Zc3h7a	C	T	16: 11,164,644	E6K	possibly damaging	Het
Zfp606	G	A	7: 12,494,175	C683Y	probably damaging	Het

Other mutations in 1600015I10Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00925:1600015I10Rik	APN	6	48931040	missense	probably damaging	1.00
IGL01347:1600015I10Rik	APN	6	48932543	missense	probably benign	0.02
IGL01751:1600015I10Rik	APN	6	48930588	missense	possibly damaging	0.79
IGL01915:1600015I10Rik	APN	6	48931648	missense	probably damaging	1.00
IGL02669:1600015I10Rik	APN	6	48931473	missense	probably damaging	1.00
IGL03033:1600015I10Rik	APN	6	48932518	missense	probably benign	0.00
IGL03242:1600015I10Rik	APN	6	48932545	missense	possibly damaging	0.68
R0096:1600015I10Rik	UTSW	6	48931188	missense	probably damaging	1.00
R0096:1600015I10Rik	UTSW	6	48931188	missense	probably damaging	1.00
R0448:1600015I10Rik	UTSW	6	48933057	missense	probably damaging	1.00
R1488:1600015I10Rik	UTSW	6	48933447	missense	possibly damaging	0.91
R1498:1600015I10Rik	UTSW	6	48931371	missense	probably benign	0.00
R1520:1600015I10Rik	UTSW	6	48931297	nonsense	probably null
R1922:1600015I10Rik	UTSW	6	48931286	missense	probably benign	0.00
R1992:1600015I10Rik	UTSW	6	48930769	missense	probably damaging	1.00
R1997:1600015I10Rik	UTSW	6	48932429	missense	probably damaging	0.98
R2021:1600015I10Rik	UTSW	6	48931451	missense	probably damaging	1.00
R3771:1600015I10Rik	UTSW	6	48931196	missense	probably damaging	1.00
R4790:1600015I10Rik	UTSW	6	48930552	missense	probably damaging	0.99
R5114:1600015I10Rik	UTSW	6	48931358	missense	probably benign	0.02
R5610:1600015I10Rik	UTSW	6	48931019	missense	probably benign	0.00
R5823:1600015I10Rik	UTSW	6	48930552	missense	probably damaging	0.99
R5847:1600015I10Rik	UTSW	6	48933478	missense	probably damaging	1.00
R6233:1600015I10Rik	UTSW	6	48930965	missense	probably benign
R6357:1600015I10Rik	UTSW	6	48930974	missense	probably benign	0.00
R6694:1600015I10Rik	UTSW	6	48930546	missense	probably benign	0.21
R6733:1600015I10Rik	UTSW	6	48930530	missense	probably damaging	1.00
R6894:1600015I10Rik	UTSW	6	48930662	missense	probably damaging	1.00
R6898:1600015I10Rik	UTSW	6	48931041	missense	probably damaging	0.97
R6916:1600015I10Rik	UTSW	6	48931053	missense	probably benign	0.01
R7242:1600015I10Rik	UTSW	6	48931128	missense	probably damaging	1.00
R7762:1600015I10Rik	UTSW	6	48932686	missense	probably benign	0.07
R8257:1600015I10Rik	UTSW	6	48932497	missense	probably benign	0.04
R8391:1600015I10Rik	UTSW	6	48932668	missense	probably damaging	0.96
R8839:1600015I10Rik	UTSW	6	48931040	missense	probably damaging	1.00
R8863:1600015I10Rik	UTSW	6	48930108	missense	probably benign	0.00
R9266:1600015I10Rik	UTSW	6	48930237	missense	probably benign	0.00
R9274:1600015I10Rik	UTSW	6	48930407	missense	possibly damaging	0.94
R9380:1600015I10Rik	UTSW	6	48933130	missense	probably damaging	1.00
R9382:1600015I10Rik	UTSW	6	48930364	missense	probably benign	0.08
X0062:1600015I10Rik	UTSW	6	48933132	missense	possibly damaging	0.55
Z1176:1600015I10Rik	UTSW	6	48932468	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- CGGACAATCTCATCAGTCCTCC -3'
(R):5'- GAGCCAATAAGATGCACACTGC -3'

Sequencing Primer
(F):5'- GACAATCTCATCAGTCCTCCACTATG -3'
(R):5'- TGCACAACCAGAGAAACCCTAGG -3'

Posted On

2015-06-10