Mutagenetix > Incidental Mutations

Incidental Mutation 'R2419:1700022I11Rik'

249128

Institutional Source

Beutler Lab

Gene Symbol

1700022I11Rik

Ensembl Gene

ENSMUSG00000028451

Gene Name

RIKEN cDNA 1700022I11 gene

Synonyms

MMRRC Submission

040381-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R2419 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42969604-42983640 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42974146 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1160 (T1160A)

Ref Sequence

ENSEMBL: ENSMUSP00000030163 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030163
AA Change: T1160A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030163
Gene: ENSMUSG00000028451
AA Change: T1160A

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

0.0684

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	A	2: 25,437,989	A768T	probably benign	Het
Acyp2	T	C	11: 30,632,316	Y33C	probably benign	Het
Ampd3	A	G	7: 110,768,369		probably benign	Het
Arap3	T	C	18: 37,989,944	D501G	probably damaging	Het
Arl4d	A	T	11: 101,666,888	Q80L	probably damaging	Het
Bcorl1	A	G	X: 48,370,541	T425A	probably damaging	Het
Ccdc38	T	A	10: 93,548,975	V35D	probably benign	Het
Cd6	G	A	19: 10,792,852	P492S	probably damaging	Het
Cdh20	G	A	1: 104,975,015	S477N	possibly damaging	Het
Cnmd	G	A	14: 79,638,048	P311S	probably damaging	Het
Cnot8	G	A	11: 58,115,310	G222R	probably damaging	Het
Dnah9	A	T	11: 66,095,415	L1131*	probably null	Het
Dscc1	G	A	15: 55,083,424	R302*	probably null	Het
Dusp18	T	C	11: 3,897,018	S3P	possibly damaging	Het
Eml2	A	G	7: 19,176,695		probably benign	Het
Foxb2	G	C	19: 16,872,961	A227G	probably damaging	Het
Hey1	A	G	3: 8,665,943		probably null	Het
Itk	A	G	11: 46,338,217	F379L	probably damaging	Het
Kcna2	G	A	3: 107,104,153	G17R	probably benign	Het
Kif7	C	A	7: 79,698,693	R1300L	probably benign	Het
Klkb1	A	T	8: 45,289,112	D43E	possibly damaging	Het
Leng9	A	G	7: 4,148,627	V350A	probably benign	Het
Lmbr1l	A	C	15: 98,907,537	F361C	possibly damaging	Het
Lrat	A	G	3: 82,903,685	S10P	probably damaging	Het
Lrrk2	C	A	15: 91,797,526		probably benign	Het
Mcur1	C	T	13: 43,549,537	V241M	possibly damaging	Het
Met	T	C	6: 17,535,830		probably benign	Het
Mical3	A	G	6: 120,959,923	V342A	probably benign	Het
Nup210	G	A	6: 91,017,556		probably benign	Het
Olfr1212	A	G	2: 88,959,036	N190S	probably benign	Het
Olfr1357	T	A	10: 78,612,387	I85F	probably benign	Het
Olfr340	T	A	2: 36,453,326	V247E	probably damaging	Het
Pcdhac1	T	C	18: 37,091,328	L398P	probably benign	Het
Phc3	T	C	3: 30,950,878	M189V	probably damaging	Het
Plcb1	A	G	2: 135,262,100		probably benign	Het
Plcxd3	G	T	15: 4,574,763	K284N	probably benign	Het
Plxnb2	A	G	15: 89,161,069	V1058A	possibly damaging	Het
Rbbp5	T	C	1: 132,493,826	I88T	possibly damaging	Het
Rfpl4b	T	C	10: 38,821,372	R78G	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,579,908		probably benign	Het
Samt2	A	T	X: 154,575,227		probably null	Het
Sdad1	T	C	5: 92,305,818	H37R	possibly damaging	Het
Setd2	T	A	9: 110,548,997	F627I	possibly damaging	Het
Ski	A	G	4: 155,160,893	S293P	probably benign	Het
Slc27a1	A	G	8: 71,579,916	E191G	possibly damaging	Het
Snx18	T	C	13: 113,617,219	M393V	possibly damaging	Het
Tacc1	A	G	8: 25,182,813	V42A	possibly damaging	Het
Tbc1d8	A	G	1: 39,376,902	F897L	probably damaging	Het
Tenm3	C	T	8: 48,276,658	D1438N	possibly damaging	Het
Tmem62	G	A	2: 121,007,105	G501E	probably damaging	Het
Tmem94	A	G	11: 115,796,815	K1167E	probably damaging	Het
Trap1	A	G	16: 4,068,330	S88P	probably benign	Het
Ugt2b38	T	C	5: 87,423,732	D147G	probably damaging	Het
Vmn1r168	A	T	7: 23,541,399	N227I	probably benign	Het
Vmn1r203	T	A	13: 22,524,834	S262T	possibly damaging	Het
Vmn1r204	T	G	13: 22,556,250	L17R	probably damaging	Het
Zcchc14	T	A	8: 121,603,936	Q896L	probably damaging	Het
Zfp619	A	G	7: 39,535,883	K446E	possibly damaging	Het
Zpr1	T	C	9: 46,276,192		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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCTCAGAGTTCCCCACATTC -3'
(R):5'- GGTTACTCTGCTCACTCCAG -3'

Sequencing Primer
(F):5'- ACATTCGGCCCTTGCTCAG -3'
(R):5'- CATTACAGGTAGTTGTGAGCCACC -3'

Posted On

2014-11-12