Mutagenetix > Incidental Mutation

Incidental Mutation 'R6592:Gm17430'

524670

Institutional Source

Beutler Lab

Gene Symbol

Gm17430

Ensembl Gene

ENSMUSG00000091285

Gene Name

predicted gene, 17430

Synonyms

MMRRC Submission

044716-MU

Accession Numbers

Essential gene?

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

Stock #

R6592 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9726205-9726670 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 9726514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 53 (V53I)

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: V53I

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000130323
Gene: ENSMUSG00000091285
AA Change: V53I

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: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

94% (31/33)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	A	G	10: 106,859,579 (GRCm39)	V340A	possibly damaging	Het
Btbd17	T	C	11: 114,682,302 (GRCm39)	Y470C	probably damaging	Het
Clca3a1	G	C	3: 144,719,644 (GRCm39)	A442G	probably damaging	Het
Cyp4v3	A	T	8: 45,760,018 (GRCm39)	N511K	probably benign	Het
Efcab5	G	T	11: 77,004,436 (GRCm39)	Q1097K	possibly damaging	Het
Epha7	T	C	4: 28,813,482 (GRCm39)		probably null	Het
Exoc6	A	G	19: 37,560,360 (GRCm39)	T126A	probably benign	Het
Fnip2	T	C	3: 79,389,015 (GRCm39)	Q572R	probably benign	Het
Gpr149	T	C	3: 62,437,961 (GRCm39)	D732G	probably benign	Het
Hdlbp	A	G	1: 93,340,083 (GRCm39)		probably null	Het
Herc2	A	G	7: 55,857,438 (GRCm39)		probably null	Het
Htt	C	T	5: 35,034,388 (GRCm39)	T1953I	possibly damaging	Het
Lgmn	C	T	12: 102,370,529 (GRCm39)	V134I	probably damaging	Het
Lhfpl7	A	G	5: 113,382,329 (GRCm39)	Y34C	probably damaging	Het
Lysmd1	A	G	3: 95,045,197 (GRCm39)	S148G	probably benign	Het
Man2a2	T	C	7: 80,002,947 (GRCm39)	D1054G	probably damaging	Het
Mcph1	A	G	8: 18,718,983 (GRCm39)	T640A	probably damaging	Het
Nat10	T	C	2: 103,584,495 (GRCm39)	E94G	probably null	Het
Or4a67	G	A	2: 88,598,471 (GRCm39)	H63Y	probably damaging	Het
Or5v1	T	A	17: 37,809,988 (GRCm39)	W149R	probably damaging	Het
Pgm3	A	G	9: 86,441,496 (GRCm39)	V367A	possibly damaging	Het
Ppp1r1a	A	C	15: 103,439,799 (GRCm39)	D164E	probably damaging	Het
Proca1	G	T	11: 78,095,779 (GRCm39)	S137I	probably benign	Het
Serinc5	T	C	13: 92,844,634 (GRCm39)	F459L	possibly damaging	Het
Slc12a8	T	C	16: 33,437,626 (GRCm39)		probably null	Het
Slc51a	T	C	16: 32,294,621 (GRCm39)	D321G	probably damaging	Het
Tchhl1	T	A	3: 93,378,116 (GRCm39)	D273E	probably damaging	Het
Tlk1	G	A	2: 70,544,497 (GRCm39)	R713C	probably damaging	Het
Tpr	T	C	1: 150,287,656 (GRCm39)	I465T	possibly damaging	Het
Usp1	A	G	4: 98,814,756 (GRCm39)	I5M	possibly damaging	Het
Zcchc14	T	C	8: 122,331,378 (GRCm39)		probably benign	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
R5840:Gm17430	UTSW	18	9,726,528 (GRCm39)	missense	probably damaging	0.96
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'- CACAATCTTTTGTCTGGGTGC -3'
(R):5'- ATGAAGTACGCAGGCACCAG -3'

Sequencing Primer
(F):5'- TTCCTTGGCAGCCCCGATAG -3'
(R):5'- ACCAGGGTCGAGCTGTG -3'

Posted On

2018-06-22