Mutagenetix > Incidental Mutation

Incidental Mutation 'R1922:1600015I10Rik'

213139

Institutional Source

Beutler Lab

Gene Symbol

1600015I10Rik

Ensembl Gene

ENSMUSG00000029813

Gene Name

RIKEN cDNA 1600015I10 gene

Synonyms

MMRRC Submission

039940-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1922 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48929895-48933687 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 48931286 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 407 (I407L)

Ref Sequence

ENSEMBL: ENSMUSP00000031837 (fasta)

Gene Model

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

AlphaFold

E9Q745

Predicted Effect

probably benign
Transcript: ENSMUST00000031837
AA Change: I407L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000031837
Gene: ENSMUSG00000029813
AA Change: I407L

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

Coding Region Coverage

1x: 97.5%
3x: 97.1%
10x: 95.8%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,319,924	N574K	probably benign	Het
Adcy9	A	T	16: 4,311,657	L455H	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Amy1	T	A	3: 113,564,895	I163F	probably damaging	Het
Armc5	A	G	7: 128,240,505	S332G	probably benign	Het
Brd4	T	C	17: 32,198,086		probably benign	Het
Cadps	T	C	14: 12,465,859	K1017R	possibly damaging	Het
Cfap45	A	G	1: 172,545,112	E458G	probably damaging	Het
Chrna1	A	G	2: 73,568,232	S288P	probably damaging	Het
Cpe	T	A	8: 64,617,689	D174V	probably benign	Het
Dclre1c	T	C	2: 3,440,782	F235L	possibly damaging	Het
Ddx20	A	T	3: 105,678,584	V815D	probably damaging	Het
Dhx9	T	C	1: 153,460,274		probably null	Het
Dmxl2	A	C	9: 54,401,523	H1981Q	probably benign	Het
Doc2a	A	C	7: 126,851,431	D293A	probably damaging	Het
Eif2a	C	T	3: 58,548,530	R317C	probably damaging	Het
Fancc	A	G	13: 63,330,567	V318A	possibly damaging	Het
Fes	A	T	7: 80,383,986	Y172*	probably null	Het
Gipc3	T	A	10: 81,338,215	I242F	probably damaging	Het
Glul	G	A	1: 153,907,324	M214I	probably benign	Het
Gm14496	A	G	2: 182,001,004	I823V	probably benign	Het
Gm6665	T	C	18: 31,820,265	N50S	probably benign	Het
Gm6729	T	C	10: 86,540,918		noncoding transcript	Het
Gpr21	T	A	2: 37,518,338	C299S	probably damaging	Het
Hapln2	T	A	3: 88,023,377	N196Y	probably benign	Het
Hsd17b12	A	G	2: 94,045,392	V196A	probably benign	Het
Kalrn	A	T	16: 34,392,093	D28E	probably benign	Het
Kansl1	A	T	11: 104,343,640	L680Q	probably damaging	Het
Kcna3	T	C	3: 107,037,935	S505P	possibly damaging	Het
Klra1	A	C	6: 130,372,865	N203K	probably benign	Het
L3mbtl2	T	A	15: 81,675,621	I236N	probably damaging	Het
Mcm3ap	C	A	10: 76,507,361	P1696T	probably damaging	Het
Mecom	T	C	3: 29,957,442	D647G	probably damaging	Het
Mn1	A	G	5: 111,418,746	D194G	probably damaging	Het
Muc5ac	A	G	7: 141,793,689	N407S	probably benign	Het
Mx2	C	T	16: 97,560,351	R584C	probably benign	Het
Myo1c	A	G	11: 75,668,229	R597G	probably benign	Het
Nav3	T	C	10: 109,705,606	D1932G	probably benign	Het
Nwd2	T	A	5: 63,794,242	D205E	probably benign	Het
Olfr1353	T	A	10: 78,970,141	L164*	probably null	Het
Olfr885	T	C	9: 38,061,685	Y122H	probably damaging	Het
Osmr	T	C	15: 6,844,367	E183G	possibly damaging	Het
Peak1	A	T	9: 56,206,687	W627R	probably damaging	Het
Pkd1	C	A	17: 24,595,157	P4167Q	probably damaging	Het
Plekhg4	T	A	8: 105,378,385	L560Q	probably damaging	Het
Prg4	C	T	1: 150,449,999	W1217*	probably null	Het
Prkdc	A	G	16: 15,714,266	I1465V	probably benign	Het
Pus1	A	G	5: 110,777,639	F105S	probably damaging	Het
Ranbp3l	T	C	15: 9,057,125	S154P	probably damaging	Het
Rhbdl1	C	T	17: 25,835,539	G211S	probably damaging	Het
Rnf219	T	C	14: 104,479,186	K584E	probably benign	Het
Rrp36	C	T	17: 46,672,745	R47Q	possibly damaging	Het
Rtp1	T	A	16: 23,431,410	I175N	probably damaging	Het
Sash1	T	A	10: 8,727,908	N1127Y	possibly damaging	Het
Setbp1	C	T	18: 78,858,362	E697K	possibly damaging	Het
Slc27a3	A	T	3: 90,386,317	V587E	probably benign	Het
Slc38a2	A	G	15: 96,691,162	F454L	possibly damaging	Het
Sprn	A	T	7: 140,153,545		probably benign	Het
St14	A	G	9: 31,089,870	V855A	possibly damaging	Het
Syt10	C	T	15: 89,790,776	D456N	probably damaging	Het
Tbc1d1	A	G	5: 64,311,221	E732G	probably damaging	Het
Tnfaip3	A	G	10: 19,003,607	F671S	possibly damaging	Het
Tor1aip2	C	A	1: 156,064,794	P282Q	probably damaging	Het
Ttc7b	C	T	12: 100,415,130		probably null	Het
Ttll2	A	T	17: 7,352,390	F46Y	probably damaging	Het
Ttn	A	G	2: 76,734,150	S28548P	probably damaging	Het
Tubb5	T	C	17: 35,835,298	Y340C	probably benign	Het
Usp32	A	T	11: 85,007,004	C1170*	probably null	Het
Usp54	G	T	14: 20,560,904	H1281Q	probably benign	Het
Vgll4	C	T	6: 114,921,335	G22S	probably benign	Het
Vmn2r120	T	A	17: 57,524,839	I317F	probably benign	Het
Zdhhc5	A	T	2: 84,693,427	F225Y	probably damaging	Het
Zfp652	A	G	11: 95,764,025	E418G	possibly 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
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
R4208:1600015I10Rik	UTSW	6	48931647	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
R9562:1600015I10Rik	UTSW	6	48930975	missense	not run
R9565:1600015I10Rik	UTSW	6	48930975	missense	not run
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'- GGATTTTCTCCTTCCGGCTAAG -3'
(R):5'- TGAGATTGTCCGTAGCACCAG -3'

Sequencing Primer
(F):5'- CAGATCCTGAATGTGCACTTTCGG -3'
(R):5'- GTAGCACCAGCATGTGTCCATTTG -3'

Posted On

2014-07-14