Mutagenetix > Incidental Mutation

Incidental Mutation 'R7648:2610021A01Rik'

590640

Institutional Source

Beutler Lab

Gene Symbol

2610021A01Rik

Ensembl Gene

ENSMUSG00000091474

Gene Name

RIKEN cDNA 2610021A01 gene

Synonyms

MMRRC Submission

045726-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R7648 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41248654-41277957 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41261886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 46 (V46A)

Ref Sequence

ENSEMBL: ENSMUSP00000127760 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163475] [ENSMUST00000205433]

AlphaFold

E9Q0Q3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163475
AA Change: V46A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000127760
Gene: ENSMUSG00000091474
AA Change: V46A

Domain	Start	End	E-Value	Type
KRAB	18	78	1.32e-32	SMART
ZnF_C2H2	415	437	4.54e-4	SMART
ZnF_C2H2	443	465	3.69e-4	SMART
ZnF_C2H2	471	493	5.14e-3	SMART
ZnF_C2H2	499	521	4.94e-5	SMART
ZnF_C2H2	527	549	3.16e-3	SMART
ZnF_C2H2	555	577	3.16e-3	SMART
ZnF_C2H2	583	605	8.6e-5	SMART
ZnF_C2H2	611	633	1.79e-2	SMART
ZnF_C2H2	639	661	2.43e-4	SMART
ZnF_C2H2	667	689	1.72e-4	SMART
ZnF_C2H2	695	717	9.73e-4	SMART
ZnF_C2H2	723	745	2.02e-1	SMART
ZnF_C2H2	751	773	1.69e-3	SMART
ZnF_C2H2	779	801	3.69e-4	SMART
ZnF_C2H2	807	829	7.37e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000205433
AA Change: V46A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

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

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb13	C	A	13: 3,699,332 (GRCm39)	N177K	probably damaging	Het
Asprv1	A	G	6: 86,605,852 (GRCm39)	T233A	probably damaging	Het
Atad2b	T	A	12: 5,077,182 (GRCm39)		probably null	Het
Atxn2	G	T	5: 121,934,440 (GRCm39)	V880F	probably damaging	Het
Car14	T	C	3: 95,805,507 (GRCm39)	N322S	probably benign	Het
Cdc42bpb	T	C	12: 111,343,587 (GRCm39)	E40G	probably damaging	Het
Ceacam16	G	T	7: 19,586,203 (GRCm39)	A103E	unknown	Het
Cnnm2	A	G	19: 46,866,339 (GRCm39)	D829G	probably damaging	Het
Cpt1b	C	T	15: 89,305,570 (GRCm39)	A382T	probably damaging	Het
Crygc	A	G	1: 65,112,484 (GRCm39)	F30S	probably damaging	Het
Cstf2t	A	G	19: 31,060,992 (GRCm39)	Q176R	possibly damaging	Het
Ctif	A	T	18: 75,770,213 (GRCm39)	H57Q	probably benign	Het
Cyp2c40	A	G	19: 39,792,289 (GRCm39)	*195Q	probably null	Het
Cyp2j8	T	A	4: 96,387,840 (GRCm39)	D207V	probably damaging	Het
Ddx49	A	G	8: 70,750,605 (GRCm39)	V123A	possibly damaging	Het
E4f1	A	T	17: 24,664,422 (GRCm39)	I456K	probably benign	Het
Eif4b	T	C	15: 101,997,435 (GRCm39)	S317P	unknown	Het
Enam	A	T	5: 88,652,016 (GRCm39)	Q1175L	possibly damaging	Het
Eppk1	T	C	15: 75,994,871 (GRCm39)	Y670C	probably benign	Het
Fam163b	G	T	2: 27,002,752 (GRCm39)	Q82K	probably benign	Het
Fam193a	A	T	5: 34,588,526 (GRCm39)	K358N	probably damaging	Het
Gls	C	A	1: 52,235,939 (GRCm39)	R392L	probably damaging	Het
Gramd1c	A	G	16: 43,810,232 (GRCm39)	V247A	probably damaging	Het
Gucy1a1	C	T	3: 82,016,014 (GRCm39)	E325K	possibly damaging	Het
Hectd4	T	C	5: 121,392,434 (GRCm39)	C233R	possibly damaging	Het
Ice1	A	G	13: 70,737,916 (GRCm39)	V2177A	possibly damaging	Het
Kif28	A	G	1: 179,536,989 (GRCm39)	V498A	possibly damaging	Het
Klhdc7a	T	C	4: 139,693,250 (GRCm39)	S566G	possibly damaging	Het
Mlph	G	A	1: 90,861,248 (GRCm39)		probably null	Het
Mndal	T	A	1: 173,684,961 (GRCm39)	Y536F	probably benign	Het
Mrgpra2a	A	T	7: 47,076,411 (GRCm39)	C282*	probably null	Het
Msantd5	G	A	11: 51,125,613 (GRCm39)	E179K	possibly damaging	Het
Msh3	A	T	13: 92,410,536 (GRCm39)	I684N	probably damaging	Het
Mylk	G	C	16: 34,699,894 (GRCm39)	S419T	probably benign	Het
Nfxl1	T	C	5: 72,680,879 (GRCm39)	K747R	probably benign	Het
Nup98	T	G	7: 101,773,404 (GRCm39)	H1641P	possibly damaging	Het
Or8b35	A	C	9: 37,903,856 (GRCm39)	T18P	probably damaging	Het
Pcm1	A	G	8: 41,728,736 (GRCm39)	N570D	probably damaging	Het
Plekhh1	T	A	12: 79,101,905 (GRCm39)	V325E	probably benign	Het
Rabl3	A	T	16: 37,384,120 (GRCm39)	I176F	probably damaging	Het
Relb	T	C	7: 19,353,767 (GRCm39)	E37G	possibly damaging	Het
Slc4a7	G	A	14: 14,773,348 (GRCm38)	E773K	probably benign	Het
Tars2	G	A	3: 95,658,294 (GRCm39)	T177I	probably benign	Het
Tenm2	T	A	11: 35,997,563 (GRCm39)	N842I	probably damaging	Het
Tmem175	A	G	5: 108,792,432 (GRCm39)	E236G	possibly damaging	Het
Trank1	A	G	9: 111,220,753 (GRCm39)	T2497A	probably benign	Het
Trf	A	G	9: 103,105,168 (GRCm39)	V48A	probably benign	Het
Ttc28	A	G	5: 111,331,258 (GRCm39)	K493E	possibly damaging	Het
Unc50	T	C	1: 37,470,402 (GRCm39)	S9P	probably benign	Het
Uso1	T	A	5: 92,341,861 (GRCm39)		probably null	Het
Usp49	A	T	17: 47,985,753 (GRCm39)	N487I	possibly damaging	Het
Xab2	T	C	8: 3,660,638 (GRCm39)	D768G	probably benign	Het
Xcr1	T	C	9: 123,685,657 (GRCm39)	E35G	possibly damaging	Het

Other mutations in 2610021A01Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:2610021A01Rik	APN	7	41,274,996 (GRCm39)	missense	possibly damaging	0.61
IGL00566:2610021A01Rik	APN	7	41,274,815 (GRCm39)	missense	possibly damaging	0.53
R0940:2610021A01Rik	UTSW	7	41,275,858 (GRCm39)	missense	probably damaging	1.00
R1101:2610021A01Rik	UTSW	7	41,276,783 (GRCm39)	missense	probably damaging	1.00
R1180:2610021A01Rik	UTSW	7	41,275,141 (GRCm39)	missense	probably benign	0.41
R1560:2610021A01Rik	UTSW	7	41,275,466 (GRCm39)	missense	probably benign	0.09
R1740:2610021A01Rik	UTSW	7	41,275,549 (GRCm39)	nonsense	probably null
R1988:2610021A01Rik	UTSW	7	41,276,081 (GRCm39)	nonsense	probably null
R2041:2610021A01Rik	UTSW	7	41,275,403 (GRCm39)	missense	possibly damaging	0.63
R2964:2610021A01Rik	UTSW	7	41,275,829 (GRCm39)	nonsense	probably null
R2965:2610021A01Rik	UTSW	7	41,275,829 (GRCm39)	nonsense	probably null
R2966:2610021A01Rik	UTSW	7	41,275,829 (GRCm39)	nonsense	probably null
R4002:2610021A01Rik	UTSW	7	41,274,964 (GRCm39)	missense	possibly damaging	0.83
R4569:2610021A01Rik	UTSW	7	41,275,262 (GRCm39)	missense	probably benign	0.04
R4708:2610021A01Rik	UTSW	7	41,261,309 (GRCm39)	missense	probably damaging	1.00
R4880:2610021A01Rik	UTSW	7	41,276,529 (GRCm39)	missense	possibly damaging	0.47
R4933:2610021A01Rik	UTSW	7	41,276,226 (GRCm39)	missense	probably damaging	0.98
R5036:2610021A01Rik	UTSW	7	41,275,578 (GRCm39)	missense	possibly damaging	0.92
R5206:2610021A01Rik	UTSW	7	41,276,009 (GRCm39)	nonsense	probably null
R5235:2610021A01Rik	UTSW	7	41,274,256 (GRCm39)	missense	possibly damaging	0.53
R6449:2610021A01Rik	UTSW	7	41,275,298 (GRCm39)	nonsense	probably null
R6488:2610021A01Rik	UTSW	7	41,275,298 (GRCm39)	nonsense	probably null
R6904:2610021A01Rik	UTSW	7	41,275,516 (GRCm39)	nonsense	probably null
R7058:2610021A01Rik	UTSW	7	41,275,554 (GRCm39)	missense	possibly damaging	0.61
R7157:2610021A01Rik	UTSW	7	41,276,400 (GRCm39)	missense	probably damaging	1.00
R7392:2610021A01Rik	UTSW	7	41,275,990 (GRCm39)	missense	probably damaging	1.00
R7589:2610021A01Rik	UTSW	7	41,276,396 (GRCm39)	missense	probably damaging	1.00
R7785:2610021A01Rik	UTSW	7	41,262,617 (GRCm39)	missense	probably benign
R8153:2610021A01Rik	UTSW	7	41,275,157 (GRCm39)	missense	probably benign	0.00
R8199:2610021A01Rik	UTSW	7	41,275,304 (GRCm39)	missense	probably damaging	0.98
R8943:2610021A01Rik	UTSW	7	41,275,667 (GRCm39)	missense	probably damaging	0.98
R9052:2610021A01Rik	UTSW	7	41,275,449 (GRCm39)	missense	probably benign	0.29
R9071:2610021A01Rik	UTSW	7	41,274,783 (GRCm39)	missense	probably benign
R9169:2610021A01Rik	UTSW	7	41,261,109 (GRCm39)	start gained	probably benign
R9209:2610021A01Rik	UTSW	7	41,275,837 (GRCm39)	missense	possibly damaging	0.79
R9281:2610021A01Rik	UTSW	7	41,274,184 (GRCm39)	missense	possibly damaging	0.73
R9530:2610021A01Rik	UTSW	7	41,274,165 (GRCm39)	missense	possibly damaging	0.53
R9612:2610021A01Rik	UTSW	7	41,276,327 (GRCm39)	missense	possibly damaging	0.73
X0067:2610021A01Rik	UTSW	7	41,276,741 (GRCm39)	missense	probably benign	0.09
Z1176:2610021A01Rik	UTSW	7	41,274,766 (GRCm39)	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- GTCAAAATGTCCTCCGTCCC -3'
(R):5'- CACAAGGTAGACTGGTTTCAAATG -3'

Sequencing Primer
(F):5'- AAATGTCCTCCGTCCCATATCATAG -3'
(R):5'- AGAGCTGAGACTCAGACA -3'

Posted On

2019-10-24