Mutagenetix > Incidental Mutation

Incidental Mutation 'R0761:2610008E11Rik'

70095

Institutional Source

Beutler Lab

Gene Symbol

2610008E11Rik

Ensembl Gene

ENSMUSG00000060301

Gene Name

RIKEN cDNA 2610008E11 gene

Synonyms

MMRRC Submission

038941-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R0761 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78900208-78933434 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78903833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 133 (Y133C)

Ref Sequence

ENSEMBL: ENSMUSP00000151709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039271] [ENSMUST00000218854] [ENSMUST00000220220]

AlphaFold

G3X964

Predicted Effect

probably benign
Transcript: ENSMUST00000039271
AA Change: Y161C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000044020
Gene: ENSMUSG00000060301
AA Change: Y161C

Domain	Start	End	E-Value	Type
KRAB	10	70	6.95e-32	SMART
ZnF_C2H2	215	237	1.61e2	SMART
ZnF_C2H2	243	266	4.24e-4	SMART
ZnF_C2H2	272	295	1.03e-2	SMART
ZnF_C2H2	301	324	1.76e-1	SMART
ZnF_C2H2	330	352	1.45e-2	SMART
ZnF_C2H2	358	380	1.58e-3	SMART
ZnF_C2H2	386	408	2.75e-3	SMART
ZnF_C2H2	414	437	4.61e-5	SMART
ZnF_C2H2	443	465	1.1e-2	SMART
ZnF_C2H2	471	493	5.81e-2	SMART
ZnF_C2H2	499	521	4.79e-3	SMART
ZnF_C2H2	527	549	3.58e-2	SMART
ZnF_C2H2	555	577	3.44e-4	SMART
ZnF_C2H2	583	605	6.78e-3	SMART
ZnF_C2H2	611	633	3.95e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000218854
AA Change: Y133C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000220220

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.7%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy5	G	A	16: 35,091,195 (GRCm39)		probably benign	Het
Asb17	A	G	3: 153,550,052 (GRCm39)	K28R	probably damaging	Het
Bbs10	G	T	10: 111,135,244 (GRCm39)	C119F	probably damaging	Het
Camk2g	G	A	14: 20,816,280 (GRCm39)	Q119*	probably null	Het
Cdh18	A	T	15: 23,226,838 (GRCm39)	I46L	possibly damaging	Het
Cimip2a	T	C	2: 25,110,135 (GRCm39)		probably benign	Het
Clmn	T	A	12: 104,747,817 (GRCm39)	N577Y	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Crocc	T	C	4: 140,774,387 (GRCm39)	E63G	probably benign	Het
Crocc	T	C	4: 140,757,087 (GRCm39)	T965A	probably benign	Het
Cryzl2	A	G	1: 157,293,294 (GRCm39)	I132V	probably benign	Het
Csgalnact2	T	C	6: 118,103,073 (GRCm39)		probably benign	Het
Ctr9	T	C	7: 110,645,479 (GRCm39)	S569P	probably damaging	Het
Cul3	A	G	1: 80,255,203 (GRCm39)		probably benign	Het
Dcp2	G	A	18: 44,543,300 (GRCm39)	S286N	probably benign	Het
Dgkz	C	T	2: 91,775,696 (GRCm39)	R189H	probably benign	Het
Dst	A	G	1: 34,221,848 (GRCm39)	T2551A	probably benign	Het
Kcna4	T	A	2: 107,126,417 (GRCm39)	S384T	probably benign	Het
Klhl17	T	C	4: 156,317,204 (GRCm39)		probably null	Het
Kmt2e	C	A	5: 23,708,032 (GRCm39)	S1865*	probably null	Het
L3mbtl1	G	A	2: 162,807,967 (GRCm39)	R534H	probably damaging	Het
Lmnb2	A	T	10: 80,742,088 (GRCm39)	M1K	probably null	Het
Lrp1b	T	C	2: 41,075,947 (GRCm39)	D1784G	probably damaging	Het
Lrrc34	A	G	3: 30,685,425 (GRCm39)		probably null	Het
Megf10	C	A	18: 57,421,048 (GRCm39)	Y895*	probably null	Het
Mesd	G	T	7: 83,544,951 (GRCm39)	A143S	probably damaging	Het
Mfap3l	G	T	8: 61,124,615 (GRCm39)	V286L	possibly damaging	Het
Mroh2a	G	A	1: 88,171,672 (GRCm39)	R770Q	probably damaging	Het
Nek1	T	A	8: 61,542,489 (GRCm39)	D717E	probably benign	Het
Nudt12	A	T	17: 59,318,064 (GRCm39)	D60E	probably benign	Het
Nup205	C	T	6: 35,173,363 (GRCm39)		probably benign	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or2j3	A	T	17: 38,616,282 (GRCm39)	H23Q	probably benign	Het
Or4a75	T	C	2: 89,448,179 (GRCm39)	D119G	probably damaging	Het
Or5w19	C	T	2: 87,698,880 (GRCm39)	P182S	possibly damaging	Het
Pacs2	T	A	12: 113,023,688 (GRCm39)		probably benign	Het
Pcdha9	T	A	18: 37,133,016 (GRCm39)	L695*	probably null	Het
Pira12	A	T	7: 3,896,978 (GRCm39)		probably null	Het
Pkd1l1	A	G	11: 8,804,375 (GRCm39)	S1739P	probably damaging	Het
Polr1e	C	A	4: 45,027,392 (GRCm39)	D207E	probably damaging	Het
Polr3f	T	A	2: 144,376,327 (GRCm39)	V142E	probably damaging	Het
Psma6	T	A	12: 55,459,127 (GRCm39)	W170R	possibly damaging	Het
Rev3l	T	C	10: 39,750,191 (GRCm39)	Y3114H	probably benign	Het
Rps6ka5	C	T	12: 100,537,141 (GRCm39)	A530T	probably damaging	Het
Simc1	T	C	13: 54,674,387 (GRCm39)	Y912H	probably damaging	Het
Tnfrsf1b	T	C	4: 144,942,670 (GRCm39)	D371G	possibly damaging	Het
Trank1	T	C	9: 111,195,681 (GRCm39)	V1235A	probably damaging	Het
Ttn	T	C	2: 76,577,102 (GRCm39)	E24597G	probably damaging	Het
Ubr2	G	A	17: 47,294,242 (GRCm39)	P297L	probably damaging	Het
Unc5d	A	T	8: 29,186,560 (GRCm39)		probably null	Het
Xpo4	A	G	14: 57,850,840 (GRCm39)	F355L	probably damaging	Het

Other mutations in 2610008E11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01551:2610008E11Rik	APN	10	78,924,147 (GRCm39)	missense	possibly damaging	0.79
IGL01905:2610008E11Rik	APN	10	78,903,582 (GRCm39)	missense	probably damaging	1.00
IGL02522:2610008E11Rik	APN	10	78,903,633 (GRCm39)	missense	probably benign	0.27
IGL02999:2610008E11Rik	APN	10	78,903,424 (GRCm39)	missense	possibly damaging	0.74
K7371:2610008E11Rik	UTSW	10	78,903,767 (GRCm39)	missense	probably benign	0.01
R0557:2610008E11Rik	UTSW	10	78,903,519 (GRCm39)	missense	probably damaging	0.99
R1528:2610008E11Rik	UTSW	10	78,903,530 (GRCm39)	missense	possibly damaging	0.72
R1801:2610008E11Rik	UTSW	10	78,903,230 (GRCm39)	missense	probably damaging	1.00
R1923:2610008E11Rik	UTSW	10	78,903,743 (GRCm39)	missense	probably damaging	0.98
R2444:2610008E11Rik	UTSW	10	78,904,561 (GRCm39)	missense	possibly damaging	0.95
R4223:2610008E11Rik	UTSW	10	78,930,286 (GRCm39)	missense	probably damaging	1.00
R4653:2610008E11Rik	UTSW	10	78,903,264 (GRCm39)	missense	probably benign	0.42
R5127:2610008E11Rik	UTSW	10	78,902,826 (GRCm39)	missense	probably damaging	1.00
R5784:2610008E11Rik	UTSW	10	78,903,441 (GRCm39)	missense	possibly damaging	0.68
R6175:2610008E11Rik	UTSW	10	78,902,448 (GRCm39)	missense	probably damaging	0.98
R6990:2610008E11Rik	UTSW	10	78,902,925 (GRCm39)	missense	probably damaging	0.99
R7055:2610008E11Rik	UTSW	10	78,903,681 (GRCm39)	missense	probably damaging	0.98
R7133:2610008E11Rik	UTSW	10	78,902,474 (GRCm39)	missense	probably benign	0.33
R7133:2610008E11Rik	UTSW	10	78,902,473 (GRCm39)	missense	probably benign	0.02
R7142:2610008E11Rik	UTSW	10	78,903,446 (GRCm39)	missense	probably damaging	1.00
R7382:2610008E11Rik	UTSW	10	78,903,103 (GRCm39)	missense	probably damaging	1.00
R7577:2610008E11Rik	UTSW	10	78,902,325 (GRCm39)	missense	possibly damaging	0.95
R8103:2610008E11Rik	UTSW	10	78,903,668 (GRCm39)	missense	probably benign
R8117:2610008E11Rik	UTSW	10	78,930,289 (GRCm39)	missense	probably benign	0.07
R8296:2610008E11Rik	UTSW	10	78,903,568 (GRCm39)	missense	probably benign	0.09
R8316:2610008E11Rik	UTSW	10	78,903,573 (GRCm39)	missense	probably damaging	1.00
R8477:2610008E11Rik	UTSW	10	78,924,174 (GRCm39)	missense	probably benign	0.00
R8790:2610008E11Rik	UTSW	10	78,928,285 (GRCm39)	missense	possibly damaging	0.85
R9044:2610008E11Rik	UTSW	10	78,902,314 (GRCm39)	nonsense	probably null
R9147:2610008E11Rik	UTSW	10	78,903,406 (GRCm39)	nonsense	probably null
R9148:2610008E11Rik	UTSW	10	78,903,406 (GRCm39)	nonsense	probably null
R9474:2610008E11Rik	UTSW	10	78,903,565 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTTCCGATGAAAAGACTTCCTGC -3'
(R):5'- TTTGGGGCCATTGACACCCTTC -3'

Sequencing Primer
(F):5'- ATTTCCCAGCACTGTGGAGAG -3'
(R):5'- GTATTTACTGCCCAAAGCATGG -3'

Posted On

2013-09-30