Mutagenetix > Incidental Mutations

Incidental Mutation 'R1751:1700011H14Rik'

193543

Institutional Source

Beutler Lab

Gene Symbol

1700011H14Rik

Ensembl Gene

ENSMUSG00000021850

Gene Name

RIKEN cDNA 1700011H14 gene

Synonyms

MMRRC Submission

039783-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R1751 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49219588-49245474 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 49235884 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 128 (T128I)

Ref Sequence

ENSEMBL: ENSMUSP00000153946 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022398] [ENSMUST00000130853] [ENSMUST00000148109] [ENSMUST00000227113] [ENSMUST00000228936]

Predicted Effect

probably benign
Transcript: ENSMUST00000022398
AA Change: T138I

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000022398
Gene: ENSMUSG00000021850
AA Change: T138I

Domain	Start	End	E-Value	Type
Pfam:DUF4619	1	294	1e-153	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130853
AA Change: T128I

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000117775
Gene: ENSMUSG00000021850
AA Change: T128I

Domain	Start	End	E-Value	Type
Pfam:DUF4619	1	217	4.8e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148109

SMART Domains

Protein: ENSMUSP00000114834
Gene: ENSMUSG00000021850

Domain	Start	End	E-Value	Type
Pfam:DUF4619	1	65	3.4e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000227113
AA Change: T128I

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000228936
AA Change: T128I

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

Meta Mutation Damage Score

0.156

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

99% (85/86)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	T	A	8: 43,519,911	I685F	probably benign	Het
Alcam	A	T	16: 52,270,714	N480K	probably damaging	Het
Arhgef2	A	G	3: 88,643,953	Q778R	probably damaging	Het
Ascc3	T	A	10: 50,718,376	I1189N	probably damaging	Het
AU040320	G	A	4: 126,840,724	G713D	probably damaging	Het
Bank1	G	T	3: 136,234,614	R203S	probably benign	Het
Bank1	A	G	3: 136,254,937	V53A	probably benign	Het
Cacna1g	T	C	11: 94,459,802	S406G	probably benign	Het
Ccdc40	T	A	11: 119,230,696		probably null	Het
Cdc5l	A	T	17: 45,407,805	D628E	probably benign	Het
Chd3	G	A	11: 69,353,901		probably benign	Het
Clstn3	A	T	6: 124,431,999	W860R	probably damaging	Het
Cntn4	G	A	6: 106,618,410		probably null	Het
Coq10b	A	G	1: 55,061,354	R66G	probably damaging	Het
Cpn2	A	T	16: 30,259,667	Y405*	probably null	Het
Cyp2b9	T	C	7: 26,186,675	V89A	probably benign	Het
Depdc1a	T	C	3: 159,523,287	C559R	probably damaging	Het
Ephx1	C	T	1: 180,994,677	G101S	probably damaging	Het
Fam20a	A	T	11: 109,677,838	N287K	probably damaging	Het
Flg	A	T	3: 93,279,913	Y224F	possibly damaging	Het
Fzd8	C	T	18: 9,213,643	R242C	probably damaging	Het
Gart	A	C	16: 91,642,949		probably benign	Het
Gm11116	T	C	5: 88,111,452		probably benign	Het
Gm5519	T	C	19: 33,824,991	Y145H	possibly damaging	Het
Gmeb1	G	A	4: 132,234,887	Q154*	probably null	Het
Gnas	T	A	2: 174,297,894		probably benign	Het
Greb1	A	G	12: 16,723,438		probably benign	Het
Grin3a	A	T	4: 49,844,423	V220E	probably damaging	Het
Gstt2	T	C	10: 75,834,264	D8G	probably damaging	Het
Gucy2c	A	T	6: 136,748,775		probably benign	Het
Igf2r	A	C	17: 12,697,441	S1677A	possibly damaging	Het
Jmjd1c	T	C	10: 67,225,690	L1274P	probably benign	Het
Krt13	A	C	11: 100,121,100	H132Q	possibly damaging	Het
L1td1	T	C	4: 98,737,449	V627A	probably benign	Het
Lrp6	A	G	6: 134,464,568	L1145S	probably damaging	Het
Lrrn4cl	A	G	19: 8,851,771	T38A	probably benign	Het
Ly96	A	G	1: 16,706,175	T112A	probably benign	Het
Meltf	G	T	16: 31,883,929	C158F	probably damaging	Het
Mycbp2	A	T	14: 103,248,405	H1040Q	probably damaging	Het
Nol8	A	T	13: 49,667,408	T914S	probably benign	Het
Npas4	G	A	19: 4,988,183	P199L	probably benign	Het
Olfr109	A	T	17: 37,466,901	M232L	probably benign	Het
Pcdh10	A	T	3: 45,384,177	H923L	probably damaging	Het
Pcp4	A	C	16: 96,525,489	Q290P	probably damaging	Het
Pdlim1	C	T	19: 40,251,904		probably benign	Het
Pias3	T	C	3: 96,701,403	S228P	probably damaging	Het
Pign	A	G	1: 105,653,192	V154A	probably benign	Het
Pik3c2a	A	C	7: 116,346,236	V1445G	probably damaging	Het
Plod3	T	A	5: 136,990,176	V305E	possibly damaging	Het
Plxnc1	A	G	10: 94,849,815		probably benign	Het
Prkra	G	T	2: 76,647,240	H40Q	possibly damaging	Het
Retnlg	A	T	16: 48,873,628	D49V	possibly damaging	Het
Rfx2	A	G	17: 56,784,754	V313A	probably benign	Het
Robo2	A	G	16: 74,035,024	V256A	probably damaging	Het
Rtp1	A	G	16: 23,431,374	E163G	probably damaging	Het
Sbpl	A	G	17: 23,954,803		probably null	Het
Scg3	G	A	9: 75,669,340	T251M	probably damaging	Het
Setbp1	T	C	18: 78,857,398	D1018G	probably damaging	Het
Slc38a11	T	A	2: 65,350,108	I182F	probably benign	Het
Slc6a20a	T	A	9: 123,637,100	I522F	probably damaging	Het
Smarca2	T	C	19: 26,640,380		probably benign	Het
Ssbp3	G	T	4: 107,047,415	D336Y	probably damaging	Het
Stox1	T	C	10: 62,659,666	T943A	probably damaging	Het
Sun2	A	G	15: 79,725,557	S694P	probably benign	Het
Tdp1	G	A	12: 99,891,343		probably null	Het
Tfap2a	A	T	13: 40,725,137	I204N	probably damaging	Het
Tfip11	T	A	5: 112,334,432	W519R	probably damaging	Het
Tie1	T	C	4: 118,476,176	E831G	possibly damaging	Het
Tln2	C	T	9: 67,286,514	A1773T	probably benign	Het
Tmem39b	A	C	4: 129,693,183	I78M	possibly damaging	Het
Trank1	T	C	9: 111,391,479	V2428A	probably benign	Het
Trim35	A	G	14: 66,304,168	E247G	probably damaging	Het
Trpc7	T	A	13: 56,776,143	D743V	probably damaging	Het
Trrap	T	C	5: 144,814,575		probably null	Het
Tsc1	A	G	2: 28,676,026	I485V	probably damaging	Het
Tsc22d1	T	C	14: 76,418,102	S674P	probably damaging	Het
Tsn	A	T	1: 118,300,888	D201E	probably damaging	Het
Tsr3	T	C	17: 25,242,639	I317T	possibly damaging	Het
Tubb1	A	G	2: 174,456,896	S124G	probably benign	Het
Vmn1r192	A	G	13: 22,187,271	S260P	probably benign	Het
Vmn2r108	A	T	17: 20,462,524	V806E	probably damaging	Het
Wnt10b	A	T	15: 98,772,675	L228Q	probably damaging	Het
Zfp108	C	A	7: 24,261,896	H637Q	probably damaging	Het

Other mutations in 1700011H14Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:1700011H14Rik	APN	14	49235884	missense	probably benign	0.02
IGL02133:1700011H14Rik	APN	14	49232967	missense	probably benign	0.05
IGL03325:1700011H14Rik	APN	14	49243820	splice site	probably benign
R1767:1700011H14Rik	UTSW	14	49235884	missense	probably benign	0.09
R1846:1700011H14Rik	UTSW	14	49235963	missense	probably damaging	1.00
R1908:1700011H14Rik	UTSW	14	49226575	missense	probably damaging	1.00
R4563:1700011H14Rik	UTSW	14	49234498	missense	probably benign	0.27
R4883:1700011H14Rik	UTSW	14	49245103	missense	probably damaging	1.00
R4915:1700011H14Rik	UTSW	14	49232894	missense	probably benign	0.01
R5381:1700011H14Rik	UTSW	14	49232907	missense	probably damaging	1.00
R5986:1700011H14Rik	UTSW	14	49232946	missense	probably damaging	1.00
R6379:1700011H14Rik	UTSW	14	49243734	missense	probably benign	0.02
R6829:1700011H14Rik	UTSW	14	49226568	makesense	probably null
R6841:1700011H14Rik	UTSW	14	49243813	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGGCTCTCTTTTCTCCACAAAGCAG -3'
(R):5'- GTGCCGCTTTCACACAATGCTC -3'

Sequencing Primer
(F):5'- GTGGAGGGCACTTGCCAG -3'
(R):5'- CGGGTAGTTTAATGTACCTGCTTTTG -3'

Posted On

2014-05-23