Mutagenetix > Incidental Mutation

Incidental Mutation 'R8943:2610021A01Rik'

681099

Institutional Source

Beutler Lab

Gene Symbol

2610021A01Rik

Ensembl Gene

ENSMUSG00000091474

Gene Name

RIKEN cDNA 2610021A01 gene

Synonyms

MMRRC Submission

068782-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R8943 (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 41275667 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 457 (S457P)

Ref Sequence

ENSEMBL: ENSMUSP00000127760 (fasta)

Gene Model

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

AlphaFold

E9Q0Q3

Predicted Effect

probably damaging
Transcript: ENSMUST00000163475
AA Change: S457P

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127760
Gene: ENSMUSG00000091474
AA Change: S457P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	A	G	6: 86,964,234 (GRCm39)	N945S	unknown	Het
Actr1a	C	A	19: 46,369,438 (GRCm39)	R192L	possibly damaging	Het
Adgrl2	T	A	3: 148,534,119 (GRCm39)	N1036I	probably damaging	Het
Ak5	A	G	3: 152,361,511 (GRCm39)	V137A	probably damaging	Het
Aldh1a2	T	C	9: 71,169,055 (GRCm39)	V179A	probably damaging	Het
Ap2b1	A	T	11: 83,237,579 (GRCm39)	I548F	probably damaging	Het
Arhgef10l	A	G	4: 140,292,550 (GRCm39)	Y352H	probably damaging	Het
Atad5	C	T	11: 79,986,524 (GRCm39)	T537M	possibly damaging	Het
Atoh7	A	G	10: 62,935,938 (GRCm39)	K2E	possibly damaging	Het
BC061237	A	G	14: 44,741,658 (GRCm39)	I134V	probably benign	Het
Cadm1	T	C	9: 47,701,136 (GRCm39)	I141T	probably damaging	Het
Capn10	T	C	1: 92,871,454 (GRCm39)	S351P	probably damaging	Het
Cct6b	T	C	11: 82,654,959 (GRCm39)		probably benign	Het
Cd19	T	C	7: 126,011,330 (GRCm39)	T284A	probably benign	Het
Cfap53	A	G	18: 74,432,253 (GRCm39)	Y47C	probably damaging	Het
Cldn18	T	C	9: 99,578,162 (GRCm39)	M194V	probably benign	Het
Dgkb	T	A	12: 38,652,777 (GRCm39)	Y721N	probably damaging	Het
Dmbt1	A	G	7: 130,721,372 (GRCm39)	Q1880R	possibly damaging	Het
Dock2	T	C	11: 34,599,646 (GRCm39)	N311S	possibly damaging	Het
Dpysl5	G	T	5: 30,935,375 (GRCm39)	M159I	probably benign	Het
Eif2b3	G	A	4: 116,901,778 (GRCm39)	G147E	probably damaging	Het
Fam193a	A	G	5: 34,597,796 (GRCm39)	D531G	probably benign	Het
Fndc3b	T	C	3: 27,555,329 (GRCm39)		probably benign	Het
Foxe3	C	A	4: 114,782,523 (GRCm39)	A230S	unknown	Het
Gm5591	A	T	7: 38,219,727 (GRCm39)	V382E	probably benign	Het
Gm7995	A	T	14: 42,132,228 (GRCm39)	N21I	probably damaging	Het
Ipo8	G	A	6: 148,676,547 (GRCm39)	P981S	probably benign	Het
Kcnh8	A	G	17: 53,104,486 (GRCm39)	D161G	probably benign	Het
Krt71	A	G	15: 101,645,180 (GRCm39)	I377T	possibly damaging	Het
Krt75	A	T	15: 101,476,767 (GRCm39)	M374K	probably benign	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lpcat1	A	G	13: 73,662,029 (GRCm39)	T409A	probably benign	Het
Lrch1	A	T	14: 75,032,808 (GRCm39)	I514K	probably benign	Het
Mc4r	A	C	18: 66,993,110 (GRCm39)	M1R	probably null	Het
Mthfd1l	A	T	10: 3,978,466 (GRCm39)	H442L	probably damaging	Het
Or5d38	T	A	2: 87,954,718 (GRCm39)	I204F	probably damaging	Het
Pdcd1lg2	T	C	19: 29,423,553 (GRCm39)	M199T	probably benign	Het
Pigg	G	A	5: 108,484,066 (GRCm39)	V438M	probably damaging	Het
Pira12	T	C	7: 3,898,365 (GRCm39)	E319G	probably benign	Het
Ppfibp1	T	A	6: 146,920,681 (GRCm39)		probably null	Het
Rbm15	T	A	3: 107,239,372 (GRCm39)	Y342F	possibly damaging	Het
Rhbdl1	A	T	17: 26,054,116 (GRCm39)	V278E	probably damaging	Het
Ryr3	T	C	2: 112,465,669 (GRCm39)	N4781S	probably damaging	Het
Scn7a	A	T	2: 66,525,206 (GRCm39)		silent	Het
Sfswap	A	G	5: 129,581,168 (GRCm39)	R114G	probably damaging	Het
Sohlh2	C	A	3: 55,104,282 (GRCm39)	A258D	possibly damaging	Het
Sstr4	T	A	2: 148,237,782 (GRCm39)	V131D	possibly damaging	Het
Tenm2	T	C	11: 36,834,861 (GRCm39)	T45A	probably damaging	Het
Tmem131l	A	T	3: 83,831,479 (GRCm39)	F818I	probably damaging	Het
Trappc6b	A	G	12: 59,097,149 (GRCm39)	F58L	probably damaging	Het
Vmn1r229	A	T	17: 21,035,418 (GRCm39)	H221L	possibly damaging	Het
Vmn1r33	T	A	6: 66,588,783 (GRCm39)	Y257F	probably damaging	Het
Wdfy3	T	C	5: 101,993,231 (GRCm39)		probably benign	Het
Zfp446	C	T	7: 12,713,564 (GRCm39)	Q177*	probably null	Het
Zup1	A	G	10: 33,795,301 (GRCm39)	*552Q	probably null	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
R7648:2610021A01Rik	UTSW	7	41,261,886 (GRCm39)	missense	possibly damaging	0.51
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
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'- TGCTTCAACCTGGAGGAAC -3'
(R):5'- TGATCGTGTGGCAAAGGAC -3'

Sequencing Primer
(F):5'- TTCTCAGTTCTCAGGCTACAGAGAG -3'
(R):5'- TGTGGCAAAGGACTTTCCAC -3'

Posted On

2021-08-31