Mutagenetix > Incidental Mutations

Incidental Mutation 'R6082:1700022I11Rik'

482229

Institutional Source

Beutler Lab

Gene Symbol

1700022I11Rik

Ensembl Gene

ENSMUSG00000028451

Gene Name

RIKEN cDNA 1700022I11 gene

Synonyms

MMRRC Submission

044241-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R6082 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42969604-42983640 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42972511 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 615 (M615V)

Ref Sequence

ENSEMBL: ENSMUSP00000030163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030163] [ENSMUST00000139127] [ENSMUST00000185904] [ENSMUST00000190902]

Predicted Effect

probably benign
Transcript: ENSMUST00000030163
AA Change: M615V

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000030163
Gene: ENSMUSG00000028451
AA Change: M615V

Domain	Start	End	E-Value	Type
low complexity region	38	55	N/A	INTRINSIC
low complexity region	85	93	N/A	INTRINSIC
low complexity region	253	269	N/A	INTRINSIC
internal_repeat_1	322	432	6.53e-5	PROSPERO
low complexity region	434	449	N/A	INTRINSIC
low complexity region	507	521	N/A	INTRINSIC
low complexity region	599	610	N/A	INTRINSIC
internal_repeat_1	622	738	6.53e-5	PROSPERO
low complexity region	847	861	N/A	INTRINSIC
low complexity region	897	908	N/A	INTRINSIC
low complexity region	914	925	N/A	INTRINSIC
low complexity region	944	958	N/A	INTRINSIC
low complexity region	990	1001	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139127

SMART Domains

Protein: ENSMUSP00000116415
Gene: ENSMUSG00000028451

Domain	Start	End	E-Value	Type
low complexity region	38	55	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185904

SMART Domains

Protein: ENSMUSP00000140492
Gene: ENSMUSG00000028451

Domain	Start	End	E-Value	Type
low complexity region	25	33	N/A	INTRINSIC
Pfam:FAM75	99	149	2e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189414

Predicted Effect

probably benign
Transcript: ENSMUST00000190902

SMART Domains

Protein: ENSMUSP00000140363
Gene: ENSMUSG00000028451

Domain	Start	End	E-Value	Type
low complexity region	49	57	N/A	INTRINSIC
low complexity region	217	233	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	C	1: 11,798,528	I344T	probably benign	Het
Adamts19	G	A	18: 58,968,774	A639T	probably benign	Het
Adamts9	T	C	6: 92,889,949	D122G	probably damaging	Het
Bin2	A	G	15: 100,645,148	S358P	possibly damaging	Het
Bora	A	T	14: 99,062,294	Q234L	possibly damaging	Het
Btaf1	C	T	19: 36,983,542	R772C	probably damaging	Het
Cenpf	T	C	1: 189,658,104	E1177G	probably benign	Het
Clec4b2	A	T	6: 123,204,141		probably null	Het
Dedd2	G	A	7: 25,211,290	P154S	probably benign	Het
Dennd5b	A	G	6: 149,068,695	S87P	probably damaging	Het
Dhx8	C	T	11: 101,764,313	R1050W	probably damaging	Het
Eif3a	T	C	19: 60,772,130	K682R	possibly damaging	Het
Eif4e2	G	T	1: 87,226,234		probably null	Het
Ephb1	T	C	9: 101,971,104	D665G	probably damaging	Het
Gbp7	G	A	3: 142,545,936	V515M	probably benign	Het
Hnrnpdl	C	T	5: 100,036,481	G398S	probably null	Het
Hook3	C	A	8: 26,110,785	A32S	probably benign	Het
Hoxb4	T	C	11: 96,318,533		probably benign	Het
Idi1	T	A	13: 8,890,470	Y229*	probably null	Het
Lpl	A	T	8: 68,896,649	I276F	probably damaging	Het
Ltbp4	T	C	7: 27,335,680		probably benign	Het
Mphosph8	A	G	14: 56,668,541	I64V	probably damaging	Het
Mroh1	A	G	15: 76,430,223	D700G	probably benign	Het
Myt1l	T	C	12: 29,842,519	Y52H	probably damaging	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Nlrp9a	T	A	7: 26,567,977	D777E	probably benign	Het
Nudt4	A	G	10: 95,551,456	I82T	probably benign	Het
Nwd2	T	C	5: 63,805,031	C653R	possibly damaging	Het
Obscn	A	G	11: 58,999,567	Y7380H	unknown	Het
Olfr1045	A	C	2: 86,198,317	V145G	probably damaging	Het
Olfr281	C	T	15: 98,456,766	A152V	probably damaging	Het
Olfr46	A	G	7: 140,610,681	T172A	probably benign	Het
Olfr918	C	A	9: 38,672,570	R291S	probably damaging	Het
Ptk2	A	T	15: 73,276,865	M409K	probably damaging	Het
Ptpn11	T	C	5: 121,154,526	T253A	probably benign	Het
Rabl6	C	T	2: 25,583,825		probably benign	Het
Rnf14	T	C	18: 38,301,670	S57P	possibly damaging	Het
Scnm1	T	C	3: 95,130,285	I157V	probably benign	Het
Slco1b2	A	C	6: 141,663,670	I269L	probably benign	Het
Smchd1	A	G	17: 71,349,719	Y1918H	probably benign	Het
Spag17	A	T	3: 100,124,185	I2255F	possibly damaging	Het
Tnnt2	A	G	1: 135,849,434	M199V	probably benign	Het
Tymp	GC	GCC	15: 89,374,364		probably null	Het
Vmn2r73	T	A	7: 85,858,221	I628L	probably benign	Het
Zc2hc1b	C	A	10: 13,171,311	E19*	probably null	Het

Other mutations in 1700022I11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:1700022I11Rik	APN	4	42973982	missense	probably benign	0.40
IGL01340:1700022I11Rik	APN	4	42971984	missense	possibly damaging	0.94
IGL02078:1700022I11Rik	APN	4	42972685	missense	possibly damaging	0.71
IGL02082:1700022I11Rik	APN	4	42970198	missense	probably benign	0.00
IGL02993:1700022I11Rik	APN	4	42971719	missense	probably damaging	0.99
IGL03174:1700022I11Rik	APN	4	42970975	missense	probably benign	0.00
IGL03188:1700022I11Rik	APN	4	42971225	missense	possibly damaging	0.56
R0031:1700022I11Rik	UTSW	4	42973712	missense	probably damaging	0.99
R0179:1700022I11Rik	UTSW	4	42972214	missense	probably benign	0.00
R0409:1700022I11Rik	UTSW	4	42972203	missense	probably damaging	0.98
R0422:1700022I11Rik	UTSW	4	42972199	missense	possibly damaging	0.95
R0462:1700022I11Rik	UTSW	4	42973429	missense	probably benign
R0467:1700022I11Rik	UTSW	4	42972715	missense	probably benign
R0677:1700022I11Rik	UTSW	4	42970952	nonsense	probably null
R0723:1700022I11Rik	UTSW	4	42971691	missense	probably damaging	0.98
R1479:1700022I11Rik	UTSW	4	42972543	missense	possibly damaging	0.55
R1586:1700022I11Rik	UTSW	4	42971512	missense	probably benign	0.03
R1956:1700022I11Rik	UTSW	4	42970105	splice site	probably null
R2030:1700022I11Rik	UTSW	4	42974131	nonsense	probably null
R2074:1700022I11Rik	UTSW	4	42974171	missense	probably benign	0.38
R2162:1700022I11Rik	UTSW	4	42972238	missense	possibly damaging	0.59
R2419:1700022I11Rik	UTSW	4	42974146	missense	possibly damaging	0.94
R2939:1700022I11Rik	UTSW	4	42972946	missense	probably benign	0.04
R3615:1700022I11Rik	UTSW	4	42971864	missense	probably benign	0.10
R3616:1700022I11Rik	UTSW	4	42971864	missense	probably benign	0.10
R3981:1700022I11Rik	UTSW	4	42971534	missense	probably damaging	0.99
R5037:1700022I11Rik	UTSW	4	42972195	missense	probably benign
R5252:1700022I11Rik	UTSW	4	42971706	missense	probably benign	0.00
R5526:1700022I11Rik	UTSW	4	42972125	missense	possibly damaging	0.90
R5642:1700022I11Rik	UTSW	4	42971831	missense	possibly damaging	0.61
R5935:1700022I11Rik	UTSW	4	42971465	missense	probably benign
R6136:1700022I11Rik	UTSW	4	42972853	missense	probably damaging	0.96
R6361:1700022I11Rik	UTSW	4	42972695	missense	probably benign	0.05
R6494:1700022I11Rik	UTSW	4	42971924	missense	possibly damaging	0.94
R6641:1700022I11Rik	UTSW	4	42971245	missense	possibly damaging	0.90
R7289:1700022I11Rik	UTSW	4	42972379	missense	probably benign	0.00
R7289:1700022I11Rik	UTSW	4	42973252	missense	possibly damaging	0.66
R7777:1700022I11Rik	UTSW	4	42970171	nonsense	probably null
R7777:1700022I11Rik	UTSW	4	42971095	missense	probably benign
R7893:1700022I11Rik	UTSW	4	42971539	missense	probably damaging	0.99
R8066:1700022I11Rik	UTSW	4	42971929	missense	possibly damaging	0.66
R8311:1700022I11Rik	UTSW	4	42973169	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- CTCTGAAACTCCAACCCTGG -3'
(R):5'- AGGTTCAGAAATGGCGGCTC -3'

Sequencing Primer
(F):5'- AACCCTGGACTTCCACGTG -3'
(R):5'- GGCTCAGAAGACGAACATTTCTTTG -3'

Posted On

2017-07-14