Mutagenetix > Incidental Mutation

Incidental Mutation 'R5840:Gm17430'

450402

Institutional Source

Beutler Lab

Gene Symbol

Gm17430

Ensembl Gene

ENSMUSG00000091285

Gene Name

predicted gene, 17430

Synonyms

MMRRC Submission

044060-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.336) question?

Stock #

R5840 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9726205-9726670 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9726528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 48 (Q48L)

Ref Sequence

ENSEMBL: ENSMUSP00000130323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040069] [ENSMUST00000171339]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040069

SMART Domains

Protein: ENSMUSP00000043220
Gene: ENSMUSG00000036103

Domain	Start	End	E-Value	Type
transmembrane domain	34	56	N/A	INTRINSIC
coiled coil region	112	157	N/A	INTRINSIC
low complexity region	205	211	N/A	INTRINSIC
coiled coil region	217	247	N/A	INTRINSIC
low complexity region	268	280	N/A	INTRINSIC
low complexity region	369	385	N/A	INTRINSIC
Pfam:Collagen	441	499	1.4e-10	PFAM
Pfam:Collagen	482	548	9.6e-10	PFAM
Pfam:Collagen	530	591	3.8e-11	PFAM
CLECT	607	731	4.19e-36	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000171339
AA Change: Q48L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000130323
Gene: ENSMUSG00000091285
AA Change: Q48L

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L24e	1	66	1e-26	PFAM
low complexity region	111	137	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 96.5%
20x: 88.1%

Validation Efficiency

99% (75/76)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	A	2: 25,323,371 (GRCm39)	R113Q	probably benign	Het
Aip	G	A	19: 4,166,010 (GRCm39)	P147L	possibly damaging	Het
Anapc1	A	C	2: 128,448,957 (GRCm39)		probably benign	Het
Arhgap42	C	T	9: 9,046,518 (GRCm39)	V240I	possibly damaging	Het
Axdnd1	T	C	1: 156,176,528 (GRCm39)	E684G	probably damaging	Het
BC005624	G	A	2: 30,871,869 (GRCm39)	R2W	probably benign	Het
Cd177	T	G	7: 24,457,495 (GRCm39)	Q182P	probably damaging	Het
Cdca5	G	A	19: 6,140,399 (GRCm39)	E187K	possibly damaging	Het
Chmp1a	T	C	8: 123,934,839 (GRCm39)	Q39R	probably benign	Het
Dab2ip	A	G	2: 35,617,511 (GRCm39)	I1079V	probably damaging	Het
Dip2c	A	T	13: 9,556,712 (GRCm39)	E85D	possibly damaging	Het
Elmo2	A	T	2: 165,137,472 (GRCm39)	S497R	possibly damaging	Het
Ephb6	C	T	6: 41,592,507 (GRCm39)	A339V	possibly damaging	Het
Foxred1	T	C	9: 35,121,435 (GRCm39)	K38E	probably damaging	Het
Frem2	T	A	3: 53,555,342 (GRCm39)	T1732S	probably damaging	Het
Fto	A	G	8: 92,393,068 (GRCm39)		probably benign	Het
Gng2	A	G	14: 19,925,882 (GRCm39)	I70T	probably damaging	Het
Gtf2a2	A	G	9: 69,922,575 (GRCm39)		probably benign	Het
Invs	A	G	4: 48,396,284 (GRCm39)	D263G	probably damaging	Het
Itga2b	C	T	11: 102,352,157 (GRCm39)	V475M	probably damaging	Het
Kansl1l	A	G	1: 66,809,374 (GRCm39)		probably benign	Het
Klhl25	T	C	7: 75,516,440 (GRCm39)	F449L	possibly damaging	Het
Lamb1	T	A	12: 31,316,755 (GRCm39)	C83S	probably damaging	Het
Loxl4	G	T	19: 42,587,154 (GRCm39)	T648K	probably damaging	Het
Lrit2	T	C	14: 36,790,962 (GRCm39)	F214L	possibly damaging	Het
N4bp2	T	G	5: 65,965,437 (GRCm39)	L1162R	probably damaging	Het
Naa40	A	T	19: 7,207,373 (GRCm39)	I117N	probably benign	Het
Ncapd3	T	C	9: 27,006,054 (GRCm39)	S1492P	probably benign	Het
Nf2	T	A	11: 4,766,146 (GRCm39)	D128V	probably benign	Het
Nox4	T	C	7: 87,010,001 (GRCm39)	S401P	probably benign	Het
Nt5c1b	T	C	12: 10,427,171 (GRCm39)	V323A	probably damaging	Het
Or52a33	C	T	7: 103,288,463 (GRCm39)	V295I	probably benign	Het
Or52s19	T	A	7: 103,007,576 (GRCm39)	H275L	probably damaging	Het
Or5b118	G	A	19: 13,449,242 (GRCm39)	V303I	probably benign	Het
Pcdhb14	T	C	18: 37,581,803 (GRCm39)	V303A	probably benign	Het
Pde8a	C	A	7: 80,863,713 (GRCm39)	H17Q	probably benign	Het
Pfkl	C	T	10: 77,824,558 (GRCm39)	V716I	probably benign	Het
Phc3	G	A	3: 30,990,732 (GRCm39)	S495L	possibly damaging	Het
Psg18	A	G	7: 18,080,527 (GRCm39)		probably benign	Het
Rcc2	T	G	4: 140,439,449 (GRCm39)	N175K	possibly damaging	Het
Rhot2	G	A	17: 26,059,032 (GRCm39)	T276I	probably benign	Het
Rnase9	A	T	14: 51,276,445 (GRCm39)	Y178N	probably benign	Het
Sema4b	T	C	7: 79,868,697 (GRCm39)	C297R	probably damaging	Het
Slc35d2	T	C	13: 64,266,227 (GRCm39)		probably null	Het
Sptlc3	A	T	2: 139,389,126 (GRCm39)	N169Y	probably damaging	Het
Srsf9	T	G	5: 115,469,524 (GRCm39)	M29R	probably benign	Het
Stip1	C	A	19: 6,999,436 (GRCm39)	D449Y	possibly damaging	Het
Syne2	T	A	12: 75,927,065 (GRCm39)		probably null	Het
Tgm5	A	G	2: 120,916,141 (GRCm39)		probably null	Het
Thbs2	A	T	17: 14,901,692 (GRCm39)		probably null	Het
Trak2	T	C	1: 58,958,432 (GRCm39)	E283G	probably damaging	Het
Trbv21	A	G	6: 41,179,792 (GRCm39)	Y36C	probably damaging	Het
Trpm7	A	T	2: 126,664,531 (GRCm39)	Y949*	probably null	Het
Ubqln5	T	C	7: 103,778,161 (GRCm39)	D221G	possibly damaging	Het
Ubxn4	T	A	1: 128,187,262 (GRCm39)	V85D	possibly damaging	Het
Vmn1r172	T	A	7: 23,359,600 (GRCm39)	W162R	probably benign	Het
Vrk2	A	G	11: 26,484,314 (GRCm39)		probably benign	Het
Zc3h8	A	C	2: 128,771,824 (GRCm39)	D276E	probably benign	Het
Zfp369	C	T	13: 65,445,092 (GRCm39)	T745I	possibly damaging	Het
Zfp608	T	C	18: 55,031,978 (GRCm39)	K654R	probably damaging	Het

Other mutations in Gm17430

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0541:Gm17430	UTSW	18	9,726,267 (GRCm39)	missense	probably damaging	0.99
R5037:Gm17430	UTSW	18	9,726,561 (GRCm39)	missense	probably benign	0.02
R5466:Gm17430	UTSW	18	9,726,228 (GRCm39)	missense	probably benign	0.30
R6592:Gm17430	UTSW	18	9,726,514 (GRCm39)	missense	probably benign	0.12
R8692:Gm17430	UTSW	18	9,726,336 (GRCm39)	missense	probably benign	0.10
R9093:Gm17430	UTSW	18	9,726,640 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTTGGGCTTTCCTAACCTCTGG -3'
(R):5'- AAATTAGCTCTGCAGAGTGAGG -3'

Sequencing Primer
(F):5'- GGCTTCTGATTCCACTTGGC -3'
(R):5'- AGGCCAAGAGATGCTGACTCC -3'

Posted On

2016-12-20