Mutagenetix > Incidental Mutation

Incidental Mutation 'R6233:1600015I10Rik'

504746

Institutional Source

Beutler Lab

Gene Symbol

1600015I10Rik

Ensembl Gene

ENSMUSG00000029813

Gene Name

RIKEN cDNA 1600015I10 gene

Synonyms

MMRRC Submission

044361-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.209) question?

Stock #

R6233 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48929895-48933687 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48930965 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 300 (T300A)

Ref Sequence

ENSEMBL: ENSMUSP00000031837 (fasta)

Gene Model

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

AlphaFold

E9Q745

Predicted Effect

probably benign
Transcript: ENSMUST00000031837
AA Change: T300A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031837
Gene: ENSMUSG00000029813
AA Change: T300A

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: 99.9%
3x: 99.7%
10x: 98.2%
20x: 94.8%

Validation Efficiency

98% (79/81)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	T	C	7: 28,131,460 (GRCm38)	C33R	probably damaging	Het
Acvr1	T	A	2: 58,448,399 (GRCm38)	N437I	probably benign	Het
Adgrg7	T	A	16: 56,778,642 (GRCm38)	T57S	possibly damaging	Het
Agbl2	T	A	2: 90,813,313 (GRCm38)	D792E	probably benign	Het
AI481877	T	A	4: 59,076,245 (GRCm38)	D566V	possibly damaging	Het
Ankrd9	A	T	12: 110,977,120 (GRCm38)	I160N	probably damaging	Het
Baz2b	T	A	2: 59,907,511 (GRCm38)	Q1818L	possibly damaging	Het
Bod1	A	G	11: 31,666,740 (GRCm38)	*174Q	probably null	Het
Cacna1a	A	G	8: 84,588,753 (GRCm38)	Y1539C	probably damaging	Het
Clmn	A	C	12: 104,785,455 (GRCm38)	L247R	probably damaging	Het
Cyp1b1	G	T	17: 79,714,266 (GRCm38)	L16M	probably damaging	Het
Dhx29	T	A	13: 112,964,537 (GRCm38)	S1205T	probably benign	Het
Dmkn	C	A	7: 30,779,679 (GRCm38)	A280E	probably damaging	Het
Dnah7b	G	A	1: 46,204,269 (GRCm38)	D1578N	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038 (GRCm38)		probably null	Homo
Dsc3	C	T	18: 19,965,795 (GRCm38)	G776R	possibly damaging	Het
Eefsec	A	G	6: 88,358,544 (GRCm38)		probably null	Het
Efhb	A	G	17: 53,462,552 (GRCm38)	F243S	possibly damaging	Het
Eif2ak2	A	T	17: 78,871,233 (GRCm38)	Y137*	probably null	Het
Eny2	A	G	15: 44,433,660 (GRCm38)		probably null	Het
F2rl3	A	G	8: 72,762,885 (GRCm38)	T247A	probably benign	Het
Fan1	A	T	7: 64,354,371 (GRCm38)	H782Q	probably damaging	Het
Fbxo28	A	G	1: 182,341,508 (GRCm38)	S22P	unknown	Het
Fcrlb	A	G	1: 170,908,889 (GRCm38)	I106T	probably damaging	Het
Fer1l5	T	C	1: 36,375,286 (GRCm38)		probably null	Het
Fgfbp1	T	C	5: 43,979,362 (GRCm38)	D196G	possibly damaging	Het
Gab1	A	T	8: 80,879,532 (GRCm38)	Y24*	probably null	Het
Gcc2	T	C	10: 58,270,984 (GRCm38)	S681P	probably damaging	Het
Git2	T	C	5: 114,767,114 (GRCm38)	N94S	probably benign	Het
Gm4756	T	C	12: 72,619,567 (GRCm38)	Y110C	probably damaging	Het
Gm5346	T	G	8: 43,625,912 (GRCm38)	N425T	probably benign	Het
Gm5799	T	G	14: 43,544,631 (GRCm38)	L87V	probably damaging	Het
Gm884	A	T	11: 103,613,388 (GRCm38)	L2585I	probably damaging	Het
Gna12	A	G	5: 140,760,692 (GRCm38)	F333L	possibly damaging	Het
Gria2	A	G	3: 80,707,203 (GRCm38)	I510T	probably damaging	Het
Hace1	T	A	10: 45,670,443 (GRCm38)	I391N	possibly damaging	Het
Il1rap	A	G	16: 26,710,506 (GRCm38)	T310A	probably benign	Het
Itpr3	T	C	17: 27,086,960 (GRCm38)	I164T	probably damaging	Het
Kcnk4	T	C	19: 6,928,329 (GRCm38)	N90S	probably benign	Het
Krt40	G	A	11: 99,543,094 (GRCm38)	A22V	possibly damaging	Het
Lamc1	A	T	1: 153,223,666 (GRCm38)	D1520E	probably benign	Het
Mipep	T	A	14: 60,872,105 (GRCm38)	W644R	probably damaging	Het
Mycl	A	G	4: 122,999,920 (GRCm38)	D171G	probably damaging	Het
Myh7b	C	T	2: 155,631,799 (GRCm38)	A1584V	possibly damaging	Het
Nf1	A	G	11: 79,565,975 (GRCm38)	Y629C	probably damaging	Het
Obscn	T	A	11: 58,997,207 (GRCm38)	E2164V	probably damaging	Het
Olfr1061	T	C	2: 86,413,207 (GRCm38)	I282V	probably damaging	Het
Olfr1152	T	C	2: 87,868,560 (GRCm38)	S190P	possibly damaging	Het
Olfr1474	T	C	19: 13,471,740 (GRCm38)	Y257H	probably damaging	Het
Olfr648	A	T	7: 104,179,754 (GRCm38)	V218D	possibly damaging	Het
Olfr799	T	C	10: 129,647,296 (GRCm38)	M56T	probably benign	Het
Pcdh20	T	C	14: 88,468,052 (GRCm38)	E604G	probably benign	Het
Pilra	T	C	5: 137,823,501 (GRCm38)	T291A	possibly damaging	Het
Ppp1r9a	G	T	6: 5,077,610 (GRCm38)	D630Y	probably damaging	Het
Pros1	A	C	16: 62,898,921 (GRCm38)	Q102P	possibly damaging	Het
Rad21l	T	C	2: 151,653,542 (GRCm38)	D407G	probably benign	Het
Rapgef5	G	A	12: 117,739,718 (GRCm38)		probably null	Het
Rbm25	G	A	12: 83,659,426 (GRCm38)	A182T	probably benign	Het
Rnf13	A	G	3: 57,832,970 (GRCm38)	E236G	possibly damaging	Het
Robo3	T	G	9: 37,420,929 (GRCm38)	Y891S	probably damaging	Het
Rsrp1	T	A	4: 134,926,802 (GRCm38)	I255K	probably damaging	Het
Scn1a	T	A	2: 66,277,618 (GRCm38)	Y1588F	possibly damaging	Het
Sdr16c6	T	A	4: 4,069,984 (GRCm38)	I119F	probably damaging	Het
Slc12a7	T	C	13: 73,805,471 (GRCm38)	S767P	possibly damaging	Het
Slc23a1	A	G	18: 35,624,444 (GRCm38)	I258T	probably damaging	Het
Spata13	G	A	14: 60,692,007 (GRCm38)	R338H	probably benign	Het
Sufu	G	A	19: 46,475,632 (GRCm38)	G428R	probably damaging	Het
Sult2a1	T	C	7: 13,832,675 (GRCm38)	D125G	probably damaging	Het
Tapbp	T	C	17: 33,919,982 (GRCm38)	L41P	probably damaging	Het
Tbc1d16	T	A	11: 119,210,565 (GRCm38)	K40*	probably null	Het
Tdrd6	A	G	17: 43,629,752 (GRCm38)	V135A	probably damaging	Het
Tenm3	A	C	8: 48,417,059 (GRCm38)	V233G	probably damaging	Het
Tmem87a	A	T	2: 120,392,175 (GRCm38)		probably null	Het
Tspan11	T	C	6: 127,938,264 (GRCm38)	Y114H	probably damaging	Het
Ttn	T	A	2: 76,737,653 (GRCm38)	Y27632F	probably benign	Het
Usp44	G	A	10: 93,850,340 (GRCm38)	C539Y	probably damaging	Het
Vmn2r73	G	A	7: 85,869,891 (GRCm38)	P508S	probably benign	Het
Zfp831	A	G	2: 174,646,697 (GRCm38)	D1055G	possibly damaging	Het
Zfp871	CCACAC	CC	17: 32,775,520 (GRCm38)		probably null	Het

Other mutations in 1600015I10Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00925:1600015I10Rik	APN	6	48,931,040 (GRCm38)	missense	probably damaging	1.00
IGL01347:1600015I10Rik	APN	6	48,932,543 (GRCm38)	missense	probably benign	0.02
IGL01751:1600015I10Rik	APN	6	48,930,588 (GRCm38)	missense	possibly damaging	0.79
IGL01915:1600015I10Rik	APN	6	48,931,648 (GRCm38)	missense	probably damaging	1.00
IGL02669:1600015I10Rik	APN	6	48,931,473 (GRCm38)	missense	probably damaging	1.00
IGL03033:1600015I10Rik	APN	6	48,932,518 (GRCm38)	missense	probably benign	0.00
IGL03242:1600015I10Rik	APN	6	48,932,545 (GRCm38)	missense	possibly damaging	0.68
R0096:1600015I10Rik	UTSW	6	48,931,188 (GRCm38)	missense	probably damaging	1.00
R0096:1600015I10Rik	UTSW	6	48,931,188 (GRCm38)	missense	probably damaging	1.00
R0448:1600015I10Rik	UTSW	6	48,933,057 (GRCm38)	missense	probably damaging	1.00
R1488:1600015I10Rik	UTSW	6	48,933,447 (GRCm38)	missense	possibly damaging	0.91
R1498:1600015I10Rik	UTSW	6	48,931,371 (GRCm38)	missense	probably benign	0.00
R1520:1600015I10Rik	UTSW	6	48,931,297 (GRCm38)	nonsense	probably null
R1922:1600015I10Rik	UTSW	6	48,931,286 (GRCm38)	missense	probably benign	0.00
R1992:1600015I10Rik	UTSW	6	48,930,769 (GRCm38)	missense	probably damaging	1.00
R1997:1600015I10Rik	UTSW	6	48,932,429 (GRCm38)	missense	probably damaging	0.98
R2021:1600015I10Rik	UTSW	6	48,931,451 (GRCm38)	missense	probably damaging	1.00
R3771:1600015I10Rik	UTSW	6	48,931,196 (GRCm38)	missense	probably damaging	1.00
R4208:1600015I10Rik	UTSW	6	48,931,647 (GRCm38)	missense	probably damaging	1.00
R4790:1600015I10Rik	UTSW	6	48,930,552 (GRCm38)	missense	probably damaging	0.99
R5114:1600015I10Rik	UTSW	6	48,931,358 (GRCm38)	missense	probably benign	0.02
R5610:1600015I10Rik	UTSW	6	48,931,019 (GRCm38)	missense	probably benign	0.00
R5823:1600015I10Rik	UTSW	6	48,930,552 (GRCm38)	missense	probably damaging	0.99
R5847:1600015I10Rik	UTSW	6	48,933,478 (GRCm38)	missense	probably damaging	1.00
R6357:1600015I10Rik	UTSW	6	48,930,974 (GRCm38)	missense	probably benign	0.00
R6694:1600015I10Rik	UTSW	6	48,930,546 (GRCm38)	missense	probably benign	0.21
R6733:1600015I10Rik	UTSW	6	48,930,530 (GRCm38)	missense	probably damaging	1.00
R6894:1600015I10Rik	UTSW	6	48,930,662 (GRCm38)	missense	probably damaging	1.00
R6898:1600015I10Rik	UTSW	6	48,931,041 (GRCm38)	missense	probably damaging	0.97
R6916:1600015I10Rik	UTSW	6	48,931,053 (GRCm38)	missense	probably benign	0.01
R7242:1600015I10Rik	UTSW	6	48,931,128 (GRCm38)	missense	probably damaging	1.00
R7762:1600015I10Rik	UTSW	6	48,932,686 (GRCm38)	missense	probably benign	0.07
R8257:1600015I10Rik	UTSW	6	48,932,497 (GRCm38)	missense	probably benign	0.04
R8391:1600015I10Rik	UTSW	6	48,932,668 (GRCm38)	missense	probably damaging	0.96
R8839:1600015I10Rik	UTSW	6	48,931,040 (GRCm38)	missense	probably damaging	1.00
R8863:1600015I10Rik	UTSW	6	48,930,108 (GRCm38)	missense	probably benign	0.00
R9266:1600015I10Rik	UTSW	6	48,930,237 (GRCm38)	missense	probably benign	0.00
R9274:1600015I10Rik	UTSW	6	48,930,407 (GRCm38)	missense	possibly damaging	0.94
R9380:1600015I10Rik	UTSW	6	48,933,130 (GRCm38)	missense	probably damaging	1.00
R9382:1600015I10Rik	UTSW	6	48,930,364 (GRCm38)	missense	probably benign	0.08
R9562:1600015I10Rik	UTSW	6	48,930,975 (GRCm38)	missense	probably benign	0.01
R9565:1600015I10Rik	UTSW	6	48,930,975 (GRCm38)	missense	probably benign	0.01
R9703:1600015I10Rik	UTSW	6	48,932,695 (GRCm38)	missense	probably benign	0.01
R9781:1600015I10Rik	UTSW	6	48,930,726 (GRCm38)	missense	possibly damaging	0.58
X0062:1600015I10Rik	UTSW	6	48,933,132 (GRCm38)	missense	possibly damaging	0.55
Z1176:1600015I10Rik	UTSW	6	48,932,468 (GRCm38)	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- CTGGAAAGTGAAGCAGCTCTG -3'
(R):5'- CTGAGTGCCTGCAGATACATG -3'

Sequencing Primer
(F):5'- TCTGGTATAACGGCAAGCTC -3'
(R):5'- AGATACATGTCCTCCGAACTGTG -3'

Posted On

2018-02-28