Mutagenetix > Incidental Mutation

Incidental Mutation 'R3616:1700022I11Rik'

473019

Institutional Source

Beutler Lab

Gene Symbol

1700022I11Rik

Ensembl Gene

ENSMUSG00000028451

Gene Name

RIKEN cDNA 1700022I11 gene

Synonyms

MMRRC Submission

040673-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R3616 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42969604-42983640 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42971864 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 399 (N399S)

Ref Sequence

ENSEMBL: ENSMUSP00000030163 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030163
AA Change: N399S

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000030163
Gene: ENSMUSG00000028451
AA Change: N399S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (29/29)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,558,294	T818A	probably benign	Het
Aasdh	A	G	5: 76,888,782	V304A	probably benign	Het
Angptl3	G	A	4: 99,034,465	A248T	probably benign	Het
Ap2b1	T	A	11: 83,324,565	C112S	possibly damaging	Het
Aqr	A	T	2: 114,136,887	I549N	probably damaging	Het
Barhl1	C	T	2: 28,911,550	D161N	possibly damaging	Het
Col28a1	A	G	6: 8,014,942	V821A	probably damaging	Het
Dclk2	G	A	3: 86,920,035	P46S	probably damaging	Het
Dnah1	A	G	14: 31,315,148	L247P	possibly damaging	Het
Dpysl2	T	A	14: 66,834,370	H107L	probably damaging	Het
Dzip3	A	G	16: 48,937,063	L869S	probably damaging	Het
Efs	T	C	14: 54,920,095	Y160C	probably damaging	Het
Enam	A	T	5: 88,504,447	N1197Y	possibly damaging	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fam184b	A	G	5: 45,582,815	V343A	possibly damaging	Het
Fbxw26	A	T	9: 109,743,760	Y105*	probably null	Het
Fiz1	A	G	7: 5,008,172	L449P	probably benign	Het
Foxi2	T	A	7: 135,410,451	C23S	possibly damaging	Het
Gdf2	G	A	14: 33,944,957	R212Q	probably damaging	Het
Gm5105	C	A	3: 138,049,688	A46S	unknown	Het
Gm597	T	C	1: 28,776,575	D792G	probably benign	Het
Grik5	C	T	7: 25,022,571	A581T	probably benign	Het
Gse1	C	G	8: 120,572,742		probably benign	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Kif1b	A	T	4: 149,262,283		probably benign	Het
Krt25	A	C	11: 99,317,298	V368G	possibly damaging	Het
Lacc1	A	G	14: 77,033,287	V269A	probably benign	Het
Lamc1	T	C	1: 153,251,150	K417E	probably damaging	Het
Miip	A	G	4: 147,865,914	M75T	probably benign	Het
Nlrp10	A	G	7: 108,924,476	F599S	probably benign	Het
Nlrp12	T	A	7: 3,240,575	M436L	probably benign	Het
Olfr142	T	C	2: 90,252,409	E193G	possibly damaging	Het
Pafah1b1	G	A	11: 74,690,232	S57F	probably damaging	Het
Pard6b	T	C	2: 168,087,339		probably benign	Het
Pla2g2e	G	A	4: 138,880,374	V22I	probably benign	Het
Plekhd1	A	G	12: 80,717,270	E202G	probably damaging	Het
Prss21	A	G	17: 23,872,831	T258A	probably benign	Het
Prss34	A	G	17: 25,298,846	E65G	probably benign	Het
Psap	A	G	10: 60,294,603	N149S	probably benign	Het
Ptprf	C	T	4: 118,237,883	A275T	probably benign	Het
Sem1	A	G	6: 6,578,520	L12P	probably damaging	Het
Sf3b3	A	G	8: 110,844,523	Y4H	probably damaging	Het
Sh3bp4	G	T	1: 89,137,705	R7L	probably damaging	Het
Slc16a1	T	A	3: 104,653,570	L397Q	probably damaging	Het
Smg5	A	G	3: 88,336,451	S10G	possibly damaging	Het
Smr2	AT	ATT	5: 88,108,824		probably null	Het
Tas2r102	C	T	6: 132,762,818	Q230*	probably null	Het
Tdo2	A	G	3: 81,975,428	Y13H	possibly damaging	Het
Tmem231	C	T	8: 111,918,313	R187H	possibly damaging	Het
Tmem30b	A	G	12: 73,545,579	M254T	probably damaging	Het
Trpm1	G	A	7: 64,243,570	G1057R	probably damaging	Het
Tusc3	A	T	8: 39,164,838	K347N	probably damaging	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Vash2	T	C	1: 190,970,419	Y117C	probably damaging	Het
Vrk2	A	G	11: 26,489,866	I235T	possibly damaging	Het
Wdr20	A	G	12: 110,793,939	T420A	probably benign	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
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
R6082:1700022I11Rik	UTSW	4	42972511	missense	probably benign	0.27
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
R8706:1700022I11Rik	UTSW	4	42971776	missense	probably benign	0.02
R8743:1700022I11Rik	UTSW	4	42971030	missense	probably benign	0.00
R8774:1700022I11Rik	UTSW	4	42971087	missense	probably damaging	1.00
R8774-TAIL:1700022I11Rik	UTSW	4	42971087	missense	probably damaging	1.00
R8806:1700022I11Rik	UTSW	4	42971261	missense	probably benign	0.37
R8916:1700022I11Rik	UTSW	4	42973034	missense	probably damaging	1.00
R8927:1700022I11Rik	UTSW	4	42972251	missense	probably benign	0.00
R8928:1700022I11Rik	UTSW	4	42972251	missense	probably benign	0.00
R8947:1700022I11Rik	UTSW	4	42972097	missense	probably benign	0.17
R9193:1700022I11Rik	UTSW	4	42971519	missense	probably benign	0.01
R9569:1700022I11Rik	UTSW	4	42971740	missense	probably benign	0.10

Predicted Primers

Posted On

2017-04-14