Mutagenetix > Incidental Mutation

Incidental Mutation 'R7157:2610021A01Rik'

557372

Institutional Source

Beutler Lab

Gene Symbol

2610021A01Rik

Ensembl Gene

ENSMUSG00000091474

Gene Name

RIKEN cDNA 2610021A01 gene

Synonyms

MMRRC Submission

045258-MU

Accession Numbers

Essential gene?

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

Stock #

R7157 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41248654-41277957 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 41276400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 701 (G701D)

Ref Sequence

ENSEMBL: ENSMUSP00000127760 (fasta)

Gene Model

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

AlphaFold

E9Q0Q3

Predicted Effect

probably damaging
Transcript: ENSMUST00000163475
AA Change: G701D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127760
Gene: ENSMUSG00000091474
AA Change: G701D

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: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	T	A	11: 117,693,780 (GRCm39)	N82K	probably damaging	Het
Abca17	A	T	17: 24,554,564 (GRCm39)	V130E	possibly damaging	Het
Alpk2	T	A	18: 65,399,348 (GRCm39)	K2077*	probably null	Het
Aox1	T	C	1: 58,322,651 (GRCm39)	F73S	probably benign	Het
Ap3b1	T	A	13: 94,668,542 (GRCm39)	C965*	probably null	Het
Arhgef10	T	A	8: 14,980,030 (GRCm39)	V90E	probably damaging	Het
Atr	T	A	9: 95,751,953 (GRCm39)	H523Q	probably benign	Het
Bicdl1	G	T	5: 115,789,916 (GRCm39)	Q511K	possibly damaging	Het
Capn15	A	T	17: 26,184,228 (GRCm39)	N150K	probably damaging	Het
Card6	A	T	15: 5,129,591 (GRCm39)	W602R	probably benign	Het
Clnk	A	T	5: 38,927,234 (GRCm39)	S82T	possibly damaging	Het
Cmah	T	C	13: 24,620,612 (GRCm39)	I282T	probably damaging	Het
Cog8	A	G	8: 107,779,131 (GRCm39)	I382T	probably benign	Het
Dhrs7c	G	T	11: 67,700,722 (GRCm39)		probably null	Het
Dhrs9	T	A	2: 69,223,502 (GRCm39)	D83E	probably damaging	Het
Dmac2l	A	T	12: 69,788,562 (GRCm39)	N154Y	probably benign	Het
Dmgdh	G	A	13: 93,852,043 (GRCm39)	G624E	probably damaging	Het
Dnajc30	C	A	5: 135,093,569 (GRCm39)	F155L	probably damaging	Het
Drc7	A	C	8: 95,800,778 (GRCm39)	K600T	probably damaging	Het
Efhb	A	C	17: 53,707,928 (GRCm39)	I745S	probably damaging	Het
Elp1	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176 (GRCm39)		probably benign	Het
Fasn	T	A	11: 120,701,291 (GRCm39)	K1988*	probably null	Het
Gad2	T	C	2: 22,525,035 (GRCm39)	L273P	probably damaging	Het
Gm45861	A	T	8: 28,032,536 (GRCm39)	K887*	probably null	Het
Gm45861	A	T	8: 28,032,537 (GRCm39)	K887I	unknown	Het
Gm9195	A	G	14: 72,718,221 (GRCm39)	Y152H	probably damaging	Het
Grip1	G	A	10: 119,781,061 (GRCm39)	D237N	probably damaging	Het
Hamp	A	C	7: 30,641,961 (GRCm39)	C65G	possibly damaging	Het
Hes3	A	G	4: 152,372,581 (GRCm39)		probably benign	Het
Hgh1	T	C	15: 76,254,650 (GRCm39)	I342T	probably damaging	Het
Hlcs	T	A	16: 94,069,023 (GRCm39)	K66*	probably null	Het
Ift80	A	T	3: 68,898,277 (GRCm39)	C19*	probably null	Het
Kbtbd12	C	T	6: 88,595,650 (GRCm39)	C60Y	probably damaging	Het
Kdm4c	T	A	4: 74,263,804 (GRCm39)	V696E	probably benign	Het
Lect2	A	G	13: 56,690,803 (GRCm39)	I117T	unknown	Het
Lipn	T	A	19: 34,054,390 (GRCm39)	Y209*	probably null	Het
Lpin3	G	A	2: 160,740,627 (GRCm39)	V391I	probably benign	Het
Mocs2	A	T	13: 114,961,143 (GRCm39)	I47L	probably benign	Het
Mogs	T	A	6: 83,095,488 (GRCm39)	H768Q	probably benign	Het
Nbeal1	T	A	1: 60,276,317 (GRCm39)	I686N	probably damaging	Het
Nbeal1	T	A	1: 60,299,793 (GRCm39)	C1376*	probably null	Het
Ninl	A	G	2: 150,791,263 (GRCm39)	Y1087H	possibly damaging	Het
Or10a3	A	G	7: 108,480,475 (GRCm39)	F113L	probably benign	Het
Or10ak14	A	G	4: 118,611,615 (GRCm39)	V42A	possibly damaging	Het
Or4k5	A	G	14: 50,385,689 (GRCm39)	L214S	probably damaging	Het
Or51b6b	A	C	7: 103,309,788 (GRCm39)	L223R	probably damaging	Het
Or6s1	A	G	14: 51,308,616 (GRCm39)	V78A	possibly damaging	Het
Or8k30	T	A	2: 86,339,369 (GRCm39)	C189S	probably damaging	Het
Pkn1	A	G	8: 84,398,363 (GRCm39)	F768S	probably damaging	Het
Plekha2	A	G	8: 25,553,957 (GRCm39)	F82L	probably damaging	Het
Ppie	T	C	4: 123,028,900 (GRCm39)	E111G	probably benign	Het
Rps6ka5	T	C	12: 100,547,679 (GRCm39)	Y277C	probably damaging	Het
Scgb2b12	A	G	7: 32,026,102 (GRCm39)	V30A	probably benign	Het
Serac1	A	T	17: 6,124,476 (GRCm39)	S16T	probably benign	Het
Sf3a3	T	C	4: 124,616,693 (GRCm39)	Y192H	probably damaging	Het
Slc14a1	A	G	18: 78,145,626 (GRCm39)	V436A	probably benign	Het
Smc3	T	A	19: 53,630,329 (GRCm39)	M1112K	probably damaging	Het
Tnk2	G	A	16: 32,499,986 (GRCm39)	G1017E	probably damaging	Het
Tnn	T	A	1: 159,953,947 (GRCm39)	K603*	probably null	Het
Trpm6	T	C	19: 18,815,462 (GRCm39)	S1183P	possibly damaging	Het
Ttn	A	T	2: 76,614,724 (GRCm39)	V16964E	possibly damaging	Het
Usp17le	G	A	7: 104,417,696 (GRCm39)	T482I	probably benign	Het
Vmn1r219	T	A	13: 23,347,525 (GRCm39)	M238K	probably damaging	Het
Wfs1	C	T	5: 37,124,516 (GRCm39)	G792S	probably benign	Het
Xpa	A	T	4: 46,185,612 (GRCm39)	L122Q	probably 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
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
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'- GCAGCTCCTGTCTTCGAACAC -3'
(R):5'- GATGTGAGTGCTGGGTAAAGGAC -3'

Sequencing Primer
(F):5'- TCCTGTCTTCGAACACATCACAG -3'
(R):5'- GTAAAGGACTTGCCACAATCTGTGC -3'

Posted On

2019-06-26