Mutagenetix > Incidental Mutation

Incidental Mutation 'R5847:1600015I10Rik'

453667

Institutional Source

Beutler Lab

Gene Symbol

1600015I10Rik

Ensembl Gene

ENSMUSG00000029813

Gene Name

RIKEN cDNA 1600015I10 gene

Synonyms

MMRRC Submission

044065-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R5847 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48929895-48933687 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48933478 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 701 (F701L)

Ref Sequence

ENSEMBL: ENSMUSP00000031837 (fasta)

Gene Model

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

AlphaFold

E9Q745

Predicted Effect

probably damaging
Transcript: ENSMUST00000031837
AA Change: F701L

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

SMART Domains

Protein: ENSMUSP00000031837
Gene: ENSMUSG00000029813
AA Change: F701L

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

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	T	5: 24,544,166	L778Q	probably benign	Het
Adgrg6	T	A	10: 14,426,777	Y964F	probably damaging	Het
Akap3	T	A	6: 126,865,558	L380Q	probably damaging	Het
Alpk1	A	G	3: 127,680,074	I760T	probably benign	Het
Arhgap20	G	A	9: 51,824,976		probably benign	Het
Cacng3	T	C	7: 122,762,309	F113S	possibly damaging	Het
Ccdc158	G	T	5: 92,627,480	N955K	probably benign	Het
Ccdc63	T	A	5: 122,116,845	M368L	possibly damaging	Het
Cnot2	T	C	10: 116,527,946	T18A	probably damaging	Het
Ctnna2	A	T	6: 76,973,837	D550E	possibly damaging	Het
Cyp2c37	C	T	19: 40,011,732	R433W	probably damaging	Het
Dact2	A	G	17: 14,199,188	S103P	probably damaging	Het
Dek	A	G	13: 47,101,601		probably benign	Het
Dnah9	CAGTTGCTTAAA	CA	11: 66,095,240		probably null	Het
Dock4	A	G	12: 40,621,251	Y23C	probably damaging	Het
Edar	T	A	10: 58,603,179	S344C	probably damaging	Het
Epg5	T	C	18: 78,030,055	V2431A	probably benign	Het
Evc2	C	T	5: 37,404,724		probably benign	Het
Idh3b	A	T	2: 130,284,028	D41E	probably benign	Het
Igkv8-24	A	T	6: 70,216,972	V84D	probably damaging	Het
Mgam	T	C	6: 40,684,055	I1118T	probably benign	Het
Mtmr3	A	G	11: 4,482,925	V1116A	probably damaging	Het
Myoc	A	G	1: 162,639,367	Y35C	probably damaging	Het
Ncr1	A	T	7: 4,344,574	D246V	probably benign	Het
Nphp3	A	G	9: 104,003,037	E86G	probably damaging	Het
Olfr1097	A	C	2: 86,890,332	V281G	probably damaging	Het
Olfr168	A	T	16: 19,530,326	V198E	probably damaging	Het
Olfr678	A	T	7: 105,069,857	Y130F	probably benign	Het
Pbld1	A	T	10: 63,076,414	I275L	probably benign	Het
Pde12	A	G	14: 26,665,631	V574A	possibly damaging	Het
Pdxk	G	T	10: 78,445,038	D189E	probably benign	Het
Pkhd1	C	A	1: 20,374,736	E2276*	probably null	Het
Ppp1r10	A	G	17: 35,926,847	N237S	possibly damaging	Het
Rheb	T	A	5: 24,807,069	Y131F	probably benign	Het
Rpgrip1l	T	C	8: 91,304,985	D88G	probably damaging	Het
Scgb2b33	T	C	7: 33,112,814		noncoding transcript	Het
Snx9	C	A	17: 5,924,621	N461K	possibly damaging	Het
Tbc1d2b	C	A	9: 90,209,724	V842F	probably damaging	Het
Tgfbi	G	A	13: 56,636,605	E615K	possibly damaging	Het
Tmem51	A	G	4: 142,032,035	M134T	probably damaging	Het
Tox4	A	G	14: 52,286,784	D125G	probably damaging	Het
Trappc3	A	T	4: 126,273,978	N110I	probably damaging	Het
Trim11	T	A	11: 58,990,593	D437E	probably damaging	Het
Ttc23l	T	C	15: 10,537,596	N196S	probably benign	Het
Wnk1	C	A	6: 119,992,408	G362V	probably damaging	Het
Wwc1	A	G	11: 35,867,326	F731S	probably damaging	Het
Wwp1	A	T	4: 19,662,174	D140E	possibly damaging	Het
Zfp24	G	A	18: 24,018,038	P17L	possibly damaging	Het
Zfp354b	T	C	11: 50,923,216	E294G	probably damaging	Het
Zfp853	C	T	5: 143,288,669	V399M	unknown	Het
Zfp868	T	C	8: 69,611,652	H344R	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
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
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	probably benign	0.01
R9565:1600015I10Rik	UTSW	6	48930975	missense	probably benign	0.01
R9703:1600015I10Rik	UTSW	6	48932695	missense	probably benign	0.01
R9781:1600015I10Rik	UTSW	6	48930726	missense	possibly damaging	0.58
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'- ATCCCATGAAGTCTGTGGGC -3'
(R):5'- TTGAATGTAACCATGGCCACC -3'

Sequencing Primer
(F):5'- TCTGTGGGCACGGCAAGTC -3'
(R):5'- TGGAGCCCATTCCCTGCAC -3'

Posted On

2017-02-10