Mutagenetix > Incidental Mutation

Incidental Mutation 'R5037:Gm17430'

389602

Institutional Source

Beutler Lab

Gene Symbol

Gm17430

Ensembl Gene

ENSMUSG00000091285

Gene Name

predicted gene, 17430

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.317) question?

Stock #

R5037 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9726205-9726670 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9726561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 37 (E37G)

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 benign
Transcript: ENSMUST00000171339
AA Change: E37G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000130323
Gene: ENSMUSG00000091285
AA Change: E37G

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Btaf1	T	C	19: 36,980,931 (GRCm39)	V1584A	probably damaging	Het
Ccdc136	A	T	6: 29,417,122 (GRCm39)	S648C	probably damaging	Het
Ccna2	A	G	3: 36,625,152 (GRCm39)		probably benign	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cenpf	T	C	1: 189,416,043 (GRCm39)	E94G	probably damaging	Het
Clic1	G	A	17: 35,274,235 (GRCm39)	V139I	probably benign	Het
Coasy	A	G	11: 100,975,648 (GRCm39)	E327G	probably damaging	Het
Col6a5	C	T	9: 105,805,337 (GRCm39)	E1190K	unknown	Het
Cyp2c70	A	G	19: 40,172,441 (GRCm39)	V67A	possibly damaging	Het
Dglucy	A	G	12: 100,801,500 (GRCm39)	S52G	probably benign	Het
Dync1h1	A	G	12: 110,607,341 (GRCm39)	N2644S	probably benign	Het
Eif4g2	A	T	7: 110,676,239 (GRCm39)	N347K	probably benign	Het
Epha10	T	C	4: 124,809,178 (GRCm39)		probably benign	Het
Epm2aip1	T	C	9: 111,101,218 (GRCm39)	F64L	probably benign	Het
Eri2	G	A	7: 119,384,897 (GRCm39)	L535F	probably benign	Het
Garin5b	T	G	7: 4,761,575 (GRCm39)	K379T	possibly damaging	Het
Heatr5b	T	A	17: 79,131,939 (GRCm39)	Q388L	probably benign	Het
Htr1f	A	G	16: 64,746,291 (GRCm39)	W334R	probably damaging	Het
Icam4	A	T	9: 20,940,937 (GRCm39)	C717*	probably null	Het
Iqgap1	A	C	7: 80,383,848 (GRCm39)	L1072W	probably damaging	Het
Kbtbd11	G	T	8: 15,077,886 (GRCm39)	A162S	probably benign	Het
Kif13b	T	G	14: 64,996,038 (GRCm39)	Y941*	probably null	Het
Kndc1	T	C	7: 139,490,371 (GRCm39)	V291A	possibly damaging	Het
Lrrn3	A	T	12: 41,503,594 (GRCm39)	I241N	probably damaging	Het
Macf1	A	G	4: 123,349,312 (GRCm39)	S2387P	probably damaging	Het
Msh5	A	G	17: 35,251,369 (GRCm39)	L451S	possibly damaging	Het
Mthfd1	T	G	12: 76,340,914 (GRCm39)	F258V	probably damaging	Het
Ncstn	C	T	1: 171,896,193 (GRCm39)	R495H	probably damaging	Het
Or4k2	T	G	14: 50,423,745 (GRCm39)	T310P	probably benign	Het
Pkd1l3	T	A	8: 110,392,268 (GRCm39)	I1954N	probably damaging	Het
Ppox	C	A	1: 171,105,169 (GRCm39)	V340L	probably damaging	Het
Prkag1	T	C	15: 98,713,768 (GRCm39)	T21A	possibly damaging	Het
Pygo1	C	A	9: 72,852,199 (GRCm39)	H129N	probably damaging	Het
Rad9a	A	T	19: 4,247,173 (GRCm39)	C271S	probably benign	Het
Raph1	T	C	1: 60,535,381 (GRCm39)		probably null	Het
Reln	A	G	5: 22,153,510 (GRCm39)	F2265L	probably damaging	Het
Shc4	A	G	2: 125,471,647 (GRCm39)	I304T	probably damaging	Het
Slc35f3	T	A	8: 127,116,011 (GRCm39)	L313M	probably damaging	Het
Spata31g1	T	A	4: 42,972,195 (GRCm39)	H509Q	probably benign	Het
Spef1l	A	T	7: 139,558,587 (GRCm39)	S3R	possibly damaging	Het
Sycp2l	T	A	13: 41,283,337 (GRCm39)	M191K	possibly damaging	Het
Tmem132c	C	A	5: 127,630,199 (GRCm39)	Q579K	probably benign	Het
Trbj2-5	A	G	6: 41,520,394 (GRCm39)		probably benign	Het
Ttc38	A	G	15: 85,728,741 (GRCm39)	E231G	probably benign	Het
Utp20	A	G	10: 88,611,192 (GRCm39)	V1375A	probably benign	Het
Vcan	T	A	13: 89,852,096 (GRCm39)	T955S	probably damaging	Het
Vmn1r89	T	C	7: 12,953,314 (GRCm39)	C17R	possibly damaging	Het
Wnk1	A	G	6: 119,942,696 (GRCm39)		probably benign	Het
Zfp667	T	G	7: 6,308,949 (GRCm39)	I539S	possibly damaging	Het
Zfp738	T	A	13: 67,818,320 (GRCm39)	H557L	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
R5466:Gm17430	UTSW	18	9,726,228 (GRCm39)	missense	probably benign	0.30
R5840:Gm17430	UTSW	18	9,726,528 (GRCm39)	missense	probably damaging	0.96
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'- CAAATTAGCTCTGCAGAGTGAGG -3'

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

Posted On

2016-06-06