Mutagenetix > Incidental Mutations

Incidental Mutation 'R5986:1700011H14Rik'

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481671

Institutional Source

Beutler Lab

Gene Symbol

1700011H14Rik

Ensembl Gene

ENSMUSG00000021850

Gene Name

RIKEN cDNA 1700011H14 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R5986 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49219588-49245474 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49232946 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 172 (L172H)

Ref Sequence

ENSEMBL: ENSMUSP00000154726 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000022398
AA Change: L181H

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

SMART Domains

Protein: ENSMUSP00000022398
Gene: ENSMUSG00000021850
AA Change: L181H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000130853
AA Change: L172H

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

SMART Domains

Protein: ENSMUSP00000117775
Gene: ENSMUSG00000021850
AA Change: L172H

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 damaging
Transcript: ENSMUST00000227113
AA Change: L172H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000228936
AA Change: L172H

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	T	3: 116,772,496	F992I	probably damaging	Het
Ampd1	T	C	3: 103,085,397	F152L	probably damaging	Het
Ank2	T	C	3: 127,012,686	H602R	possibly damaging	Het
Ankib1	T	C	5: 3,747,071	D247G	probably damaging	Het
Bccip	T	A	7: 133,720,865	H313Q	probably benign	Het
Ccdc94	G	A	17: 55,962,030	C46Y	probably damaging	Het
Cep250	A	G	2: 155,979,277	E929G	probably damaging	Het
Chl1	C	A	6: 103,709,191	L954I	probably benign	Het
Cog5	A	T	12: 31,660,717	D32V	probably benign	Het
Cyp4f16	C	A	17: 32,544,142	A187E	probably benign	Het
Dffb	A	T	4: 153,965,593	V271E	probably damaging	Het
Dnah8	A	G	17: 30,851,630	Y4430C	possibly damaging	Het
Dpp3	T	C	19: 4,918,357	E229G	probably benign	Het
Fat3	T	A	9: 15,998,317	N2130Y	probably benign	Het
Gm13128	G	T	4: 144,332,753	V345F	probably damaging	Het
Kcnk3	T	C	5: 30,588,378	V21A	possibly damaging	Het
Kif9	G	A	9: 110,490,026	S186N	probably benign	Het
Lhfpl3	C	A	5: 22,746,426	N78K	probably benign	Het
Ly6c1	A	G	15: 75,045,608	S64P	probably damaging	Het
Mapk10	T	C	5: 103,038,580	T59A	probably benign	Het
Mars	A	T	10: 127,304,302	C394*	probably null	Het
Mettl16	T	A	11: 74,792,237	D168E	possibly damaging	Het
Mgat2	A	T	12: 69,185,384	Q244L	probably benign	Het
Mrps30	A	G	13: 118,384,565		probably null	Het
Myrip	C	A	9: 120,461,421	A702E	probably damaging	Het
Nepn	T	C	10: 52,404,072	L420P	probably damaging	Het
Nrn1	A	T	13: 36,734,264	Y9*	probably null	Het
Nup107	T	C	10: 117,759,176	Y752C	probably damaging	Het
Nutm2	A	T	13: 50,474,460	D520V	probably damaging	Het
Olfm2	C	T	9: 20,675,650	C48Y	probably damaging	Het
Olfr27	A	G	9: 39,144,982	N294S	probably null	Het
Olfr592	T	C	7: 103,187,528	F309S	possibly damaging	Het
Osbpl1a	T	A	18: 12,905,081	D271V	probably damaging	Het
Osmr	G	T	15: 6,844,453	D154E	probably benign	Het
Pcdh9	A	G	14: 93,887,048	V562A	probably damaging	Het
Peak1	A	C	9: 56,259,442	S401A	probably benign	Het
Pigk	A	T	3: 152,740,849	H195L	probably benign	Het
Plekha6	G	C	1: 133,272,307	R208P	possibly damaging	Het
Ppp2r1a	C	T	17: 20,951,346	R28C	probably damaging	Het
Ptbp3	T	C	4: 59,493,311	D123G	probably benign	Het
Ptgr2	G	A	12: 84,308,346	E285K	possibly damaging	Het
Rassf1	G	T	9: 107,551,822	V76L	possibly damaging	Het
Sec22a	A	G	16: 35,314,091	V307A	probably damaging	Het
Skint5	C	T	4: 113,995,648	V18I	probably benign	Het
Slc1a5	T	C	7: 16,782,226	V109A	probably benign	Het
St8sia5	T	A	18: 77,254,782	M396K	possibly damaging	Het
Tiam1	T	C	16: 89,789,186	E602G	probably benign	Het
Tll1	T	C	8: 64,074,263	E408G	probably damaging	Het
Tpsb2	G	A	17: 25,367,134	V109M	probably benign	Het
Trib1	T	A	15: 59,654,602		probably null	Het
Trio	G	T	15: 27,851,933	A765E	possibly damaging	Het
Uggt2	A	T	14: 119,049,426	V193E	probably damaging	Het
Vmn1r115	G	A	7: 20,844,522	P155L	probably benign	Het
Wdr31	A	G	4: 62,455,876	L292S	probably benign	Het
Xrra1	T	C	7: 99,876,255	I127T	probably benign	Het
Zfp442	G	A	2: 150,408,024	Q596*	probably null	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
R1751:1700011H14Rik	UTSW	14	49235884	missense	probably benign	0.09
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
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'- ACACCCCGTGAAATGTTTTAC -3'
(R):5'- GGTTCTATCCTCTGTAATTCCAAACAC -3'

Sequencing Primer
(F):5'- TACTAAAGAAATGGCTCACCTGG -3'
(R):5'- TCTCTGAGACAGTGAGCATGCTC -3'

Posted On

2017-06-26