Mutagenetix > Incidental Mutation

Incidental Mutation 'R5146:Gm7030'

395129

Institutional Source

Beutler Lab

Gene Symbol

Gm7030

Ensembl Gene

ENSMUSG00000092243

Gene Name

predicted gene 7030

Synonyms

MMRRC Submission

042730-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R5146 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36109719-36129425 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36129015 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 76 (W76R)

Ref Sequence

ENSEMBL: ENSMUSP00000133734 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046131] [ENSMUST00000172968] [ENSMUST00000173128] [ENSMUST00000173322]

AlphaFold

Q0WXH6

Predicted Effect

probably damaging
Transcript: ENSMUST00000046131
AA Change: W76R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040558
Gene: ENSMUSG00000092243
AA Change: W76R

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:MHC_I	26	204	2.3e-81	PFAM
IGc1	220	285	8.12e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000172968
AA Change: W76R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133748
Gene: ENSMUSG00000092243
AA Change: W76R

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:MHC_I	26	204	1.5e-80	PFAM
IGc1	220	285	8.12e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173128

SMART Domains

Protein: ENSMUSP00000134339
Gene: ENSMUSG00000092277

Domain	Start	End	E-Value	Type
low complexity region	103	115	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000173322
AA Change: W76R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133734
Gene: ENSMUSG00000092243
AA Change: W76R

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:MHC_I	26	204	2.3e-81	PFAM
IGc1	220	285	8.12e-13	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,243,025	D1498G	possibly damaging	Het
Adcyap1r1	A	G	6: 55,484,972	I329V	probably benign	Het
Ahnak2	A	C	12: 112,775,726	H637Q	probably benign	Het
Carmil3	A	G	14: 55,497,179	D455G	probably benign	Het
Cdh7	A	G	1: 109,994,312	T45A	probably damaging	Het
Chil4	T	A	3: 106,202,834	T315S	probably benign	Het
Cntnap5c	T	C	17: 58,013,847	V138A	probably damaging	Het
Csmd1	T	C	8: 16,196,190	D1065G	probably damaging	Het
Cspp1	C	T	1: 10,074,876	R296*	probably null	Het
Dnah17	A	G	11: 118,114,179	M793T	probably damaging	Het
Dock4	A	G	12: 40,649,492		probably null	Het
Fgfr4	G	T	13: 55,165,912	L511F	probably damaging	Het
Gm14415	T	C	2: 177,104,231		noncoding transcript	Het
Gpam	A	G	19: 55,093,946	V91A	probably damaging	Het
Grin2b	T	A	6: 135,779,342	I462F	probably damaging	Het
Grwd1	A	T	7: 45,827,834	F210I	probably damaging	Het
Itfg1	T	C	8: 85,718,868	*611W	probably null	Het
Kcna2	T	C	3: 107,105,498	V465A	probably benign	Het
Mfng	C	T	15: 78,764,388	R163H	probably benign	Het
Myo15b	A	G	11: 115,891,198	T1444A	probably benign	Het
Nlgn3	G	A	X: 101,318,285	V287I	probably benign	Het
Oas1c	A	G	5: 120,802,094	S336P	probably benign	Het
Pirb	T	C	7: 3,712,621		probably benign	Het
Pot1b	A	T	17: 55,672,865	Y330*	probably null	Het
Rnf20	A	T	4: 49,651,456	M641L	probably benign	Het
Sppl2b	T	C	10: 80,867,640	*579Q	probably null	Het
Sumf1	G	A	6: 108,185,310	P83S	probably benign	Het
Tmem101	C	T	11: 102,154,624	R133Q	probably benign	Het
Ttn	G	A	2: 76,870,363		probably benign	Het
Vmn2r84	A	G	10: 130,386,102	Y750H	probably damaging	Het
Zfp873	A	G	10: 82,060,224	Y300C	probably damaging	Het

Other mutations in Gm7030

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02997:Gm7030	APN	17	36127836	missense	possibly damaging	0.81
IGL03154:Gm7030	APN	17	36127875	missense	probably benign	0.01
IGL03170:Gm7030	APN	17	36128713	missense	probably damaging	1.00
IGL03229:Gm7030	APN	17	36127722	missense	probably damaging	1.00
R0401:Gm7030	UTSW	17	36128705	missense	probably damaging	0.99
R0666:Gm7030	UTSW	17	36127834	missense	possibly damaging	0.56
R1981:Gm7030	UTSW	17	36128722	missense	probably damaging	0.99
R1982:Gm7030	UTSW	17	36128722	missense	probably damaging	0.99
R3110:Gm7030	UTSW	17	36129146	missense	probably damaging	1.00
R3112:Gm7030	UTSW	17	36129146	missense	probably damaging	1.00
R4811:Gm7030	UTSW	17	36127776	missense	probably damaging	0.97
R5023:Gm7030	UTSW	17	36109415	unclassified	probably benign
R5802:Gm7030	UTSW	17	36111287	intron	probably benign
R6628:Gm7030	UTSW	17	36129054	missense	possibly damaging	0.49
R7123:Gm7030	UTSW	17	36127794	missense	possibly damaging	0.82
R7244:Gm7030	UTSW	17	36127604	splice site	probably null
R7880:Gm7030	UTSW	17	36127869	missense	possibly damaging	0.59
R8118:Gm7030	UTSW	17	36127690	missense	probably damaging	0.97
R8926:Gm7030	UTSW	17	36109734	critical splice acceptor site	probably null
V1662:Gm7030	UTSW	17	36128931	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCCCTTCAGTGAGTTCGTGAG -3'
(R):5'- GAAGCGAGTTGTCCTGTCTC -3'

Sequencing Primer
(F):5'- AGGGGACGTGACCTCTGAC -3'
(R):5'- ATCTCCAGGTCTGCGCAC -3'

Posted On

2016-06-21