Mutagenetix > Incidental Mutation

Incidental Mutation 'R8839:1600015I10Rik'

674314

Institutional Source

Beutler Lab

Gene Symbol

1600015I10Rik

Ensembl Gene

ENSMUSG00000029813

Gene Name

RIKEN cDNA 1600015I10 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R8839 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48929895-48933687 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48931040 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 325 (Y325H)

Ref Sequence

ENSEMBL: ENSMUSP00000031837 (fasta)

Gene Model

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

AlphaFold

E9Q745

Predicted Effect

probably damaging
Transcript: ENSMUST00000031837
AA Change: Y325H

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

SMART Domains

Protein: ENSMUSP00000031837
Gene: ENSMUSG00000029813
AA Change: Y325H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace3	T	C	11: 105,998,368	Y475H	probably damaging	Het
Ankfy1	T	C	11: 72,730,566	I226T	probably benign	Het
Anln	G	A	9: 22,356,172	S825L	probably benign	Het
B3galt4	A	G	17: 33,950,893	S124P	possibly damaging	Het
Cabin1	T	C	10: 75,656,816	I1882V	probably benign	Het
Caprin2	A	T	6: 148,873,027	S262R	probably benign	Het
Csmd2	A	C	4: 128,442,888	I1420L		Het
Cyp2b9	T	G	7: 26,200,760	V331G	probably damaging	Het
Cyp3a59	A	T	5: 146,109,086	M433L	probably benign	Het
Edrf1	A	G	7: 133,653,915	D597G	probably benign	Het
Emc3	G	A	6: 113,519,970	R147C	possibly damaging	Het
Fam172a	A	T	13: 77,999,662	H283L	probably benign	Het
Fkbp7	T	C	2: 76,667,237		probably benign	Het
Flii	T	C	11: 60,718,607	T665A	possibly damaging	Het
Fxr1	A	G	3: 34,046,682		probably benign	Het
Gpr37	T	G	6: 25,669,370	I492L	probably benign	Het
Hmg20b	A	C	10: 81,348,915	W108G	probably damaging	Het
Ighv9-3	G	A	12: 114,140,765	T93I	possibly damaging	Het
Inpp5a	T	C	7: 139,389,433	V15A	probably benign	Het
Inpp5d	T	A	1: 87,691,711	Y376N	probably damaging	Het
Ints6	A	G	14: 62,693,673	F854L	probably benign	Het
Ipo7	A	T	7: 110,042,016	K314N	probably damaging	Het
Ltn1	C	A	16: 87,418,502	C415F	probably damaging	Het
Mfsd9	T	C	1: 40,774,394	T254A	probably benign	Het
Musk	A	G	4: 58,286,151	T14A	probably benign	Het
Ncapd3	T	C	9: 27,094,434	V1438A		Het
Nnt	A	T	13: 119,357,637	V636D	unknown	Het
Olfr1338	A	G	4: 118,754,214	L110P	probably damaging	Het
Olfr629	A	G	7: 103,740,814	I142T	probably benign	Het
Olfr748	A	T	14: 50,710,500	T57S	possibly damaging	Het
Ost4	T	C	5: 30,907,591		probably benign	Het
Pdzph1	T	C	17: 58,950,242	T934A	probably benign	Het
Plekhn1	T	A	4: 156,222,589		probably benign	Het
Prkd1	T	C	12: 50,342,833		probably benign	Het
Ptch1	A	T	13: 63,541,224	L413Q	probably damaging	Het
S100pbp	A	G	4: 129,182,207		probably null	Het
Sec23a	T	C	12: 58,990,995	K361E	possibly damaging	Het
Sema3b	C	T	9: 107,601,353		probably benign	Het
Serpina3g	A	G	12: 104,237,779		probably benign	Het
Slc23a2	C	T	2: 132,101,472		silent	Het
Smug1	T	C	15: 103,155,820	R225G	possibly damaging	Het
Srbd1	T	A	17: 85,988,421	I854L	probably benign	Het
Tbc1d16	G	A	11: 119,156,648	R417C	probably damaging	Het
Tiam1	A	G	16: 89,884,939	Y384H	probably damaging	Het
Trappc9	T	A	15: 73,058,238	K90*	probably null	Het
Tubgcp6	A	T	15: 89,103,478	H1097Q	possibly damaging	Het
Ugt2b37	A	G	5: 87,254,556	L72P	probably damaging	Het
Vmn2r20	A	T	6: 123,396,556	H442Q	possibly damaging	Het
Vmn2r65	A	T	7: 84,946,281	Y398*	probably null	Het
Zfhx4	A	G	3: 5,401,855	T2383A	probably benign	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
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
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'- TGGTATAACGGCAAGCTCTAC -3'
(R):5'- CCCACATCCATGTACTTGGC -3'

Sequencing Primer
(F):5'- CTGGCTCAGAAATACGCAGATG -3'
(R):5'- ACATCCATGTACTTGGCCTGAGTG -3'

Posted On

2021-07-15