Mutagenetix > Incidental Mutation

Incidental Mutation 'R7142:2610008E11Rik'

553481

Institutional Source

Beutler Lab

Gene Symbol

2610008E11Rik

Ensembl Gene

ENSMUSG00000060301

Gene Name

RIKEN cDNA 2610008E11 gene

Synonyms

MMRRC Submission

045250-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R7142 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78900208-78933434 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78903446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 290 (H290L)

Ref Sequence

ENSEMBL: ENSMUSP00000044020 (fasta)

Gene Model

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

AlphaFold

G3X964

Predicted Effect

probably damaging
Transcript: ENSMUST00000039271
AA Change: H290L

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

SMART Domains

Protein: ENSMUSP00000044020
Gene: ENSMUSG00000060301
AA Change: H290L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000220220

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	A	4: 53,082,050 (GRCm39)	S737C	probably damaging	Het
Abca14	G	C	7: 119,850,406 (GRCm39)	V753L	possibly damaging	Het
Adgrl1	C	T	8: 84,663,829 (GRCm39)	H1099Y	probably benign	Het
Akap6	T	G	12: 52,934,147 (GRCm39)	D546E	probably benign	Het
Aldh1l1	G	A	6: 90,540,398 (GRCm39)	D228N	probably damaging	Het
Cacna1e	G	T	1: 154,288,230 (GRCm39)	Q1883K	probably damaging	Het
Caskin2	A	G	11: 115,697,562 (GRCm39)	Y125H	probably benign	Het
Ccdc85a	A	T	11: 28,527,192 (GRCm39)	Y139N	probably damaging	Het
Cd93	C	T	2: 148,283,725 (GRCm39)	W540*	probably null	Het
Cdh3	G	A	8: 107,271,860 (GRCm39)		probably null	Het
Chmp2b	G	A	16: 65,343,794 (GRCm39)	Q88*	probably null	Het
Cpt1a	T	C	19: 3,425,100 (GRCm39)	M489T	probably benign	Het
Ctsk	G	A	3: 95,414,259 (GRCm39)	V274M	possibly damaging	Het
Cyp3a44	A	G	5: 145,714,771 (GRCm39)	V460A	probably benign	Het
Cypt4	C	T	9: 24,536,740 (GRCm39)	R77*	probably null	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dnah7a	A	T	1: 53,452,927 (GRCm39)	Y3850*	probably null	Het
Drosha	A	T	15: 12,924,232 (GRCm39)	T1205S	possibly damaging	Het
Eif3j2	T	C	18: 43,610,465 (GRCm39)	E116G	probably damaging	Het
Ercc5	A	G	1: 44,213,374 (GRCm39)	E790G	probably damaging	Het
Fam163b	C	T	2: 27,003,567 (GRCm39)	R29Q	probably damaging	Het
Fbxo44	C	T	4: 148,243,269 (GRCm39)	G50E	unknown	Het
Foxo3	T	C	10: 42,150,591 (GRCm39)		probably null	Het
Gnal	C	T	18: 67,351,599 (GRCm39)	P386L	probably damaging	Het
Gpc5	T	A	14: 115,654,615 (GRCm39)	H478Q	probably benign	Het
Grhl2	A	T	15: 37,279,826 (GRCm39)	D178V	probably benign	Het
Gtf2i	C	A	5: 134,273,705 (GRCm39)	V755L	possibly damaging	Het
Hal	T	C	10: 93,336,513 (GRCm39)	V414A	possibly damaging	Het
Hmx2	T	C	7: 131,157,465 (GRCm39)	V193A	probably damaging	Het
Il17a	T	A	1: 20,802,327 (GRCm39)	M12K	probably benign	Het
Invs	T	A	4: 48,407,696 (GRCm39)	I557N	probably damaging	Het
Kng1	T	A	16: 22,898,170 (GRCm39)	H523Q	probably benign	Het
Lrp4	T	A	2: 91,325,339 (GRCm39)	I1388N	probably damaging	Het
Mboat4	A	G	8: 34,587,291 (GRCm39)	I63V	probably benign	Het
Mcoln2	G	A	3: 145,889,324 (GRCm39)		probably null	Het
Mgat5	A	T	1: 127,339,924 (GRCm39)	D435V	probably damaging	Het
Mri1	C	A	8: 84,983,753 (GRCm39)	R46L	probably damaging	Het
Mxra8	A	T	4: 155,927,519 (GRCm39)	Y409F	probably benign	Het
Nlrp1b	T	A	11: 71,062,901 (GRCm39)	R720*	probably null	Het
Ofcc1	T	C	13: 40,157,538 (GRCm39)	I887V	probably benign	Het
Or5l13	T	C	2: 87,780,056 (GRCm39)	I174V	probably benign	Het
Otud4	T	A	8: 80,399,391 (GRCm39)		probably null	Het
P3h1	T	A	4: 119,104,358 (GRCm39)	D626E	probably benign	Het
Pde2a	A	T	7: 101,153,857 (GRCm39)	D485V	probably damaging	Het
Phldb2	G	A	16: 45,577,539 (GRCm39)	R1129*	probably null	Het
Pkn1	T	C	8: 84,420,596 (GRCm39)	E10G	possibly damaging	Het
Psd2	A	G	18: 36,113,097 (GRCm39)	D264G	possibly damaging	Het
Psg29	A	G	7: 16,944,546 (GRCm39)	D352G	probably damaging	Het
Rgs14	T	C	13: 55,527,417 (GRCm39)	S218P	probably damaging	Het
Sec14l2	T	C	11: 4,048,379 (GRCm39)	T380A	probably benign	Het
Septin12	T	C	16: 4,806,226 (GRCm39)	T312A	unknown	Het
Skint5	A	T	4: 113,428,791 (GRCm39)	V1075E	unknown	Het
Ston2	A	G	12: 91,614,009 (GRCm39)	S800P	probably damaging	Het
Tmem106b	A	G	6: 13,081,564 (GRCm39)	N157S	probably damaging	Het
Tmem132b	G	A	5: 125,699,737 (GRCm39)	G133S	probably damaging	Het
Tmie	A	T	9: 110,699,749 (GRCm39)	M55K	possibly damaging	Het
Trpc6	A	T	9: 8,653,017 (GRCm39)	R608*	probably null	Het
Unc93a2	G	A	17: 7,644,021 (GRCm39)	T96I	probably damaging	Het
Usp35	A	G	7: 96,960,754 (GRCm39)	S891P	probably damaging	Het
Vmn1r178	A	G	7: 23,593,035 (GRCm39)	T28A	probably damaging	Het
Wnk1	T	A	6: 119,926,240 (GRCm39)	M1324L	probably benign	Het
Wrnip1	C	A	13: 32,986,616 (GRCm39)	S132R	possibly damaging	Het
Wsb1	T	C	11: 79,141,814 (GRCm39)	K68E	probably benign	Het
Zfp433	A	T	10: 81,556,040 (GRCm39)	K181*	probably null	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
R0761:2610008E11Rik	UTSW	10	78,903,833 (GRCm39)	missense	probably benign	0.00
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
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'- AAAAGGCTTTTCCCCACTATGAG -3'
(R):5'- CTGGAAGTCCCAACTCAGTGTAC -3'

Sequencing Primer
(F):5'- CCCCACTATGAGTTGTTTGATGACG -3'
(R):5'- GTCCCAACTCAGTGTACATGAG -3'

Posted On

2019-05-15