Mutagenetix > Incidental Mutation

Incidental Mutation 'R2381:Gm12253'

248468

Institutional Source

Beutler Lab

Gene Symbol

Gm12253

Ensembl Gene

ENSMUSG00000058287

Gene Name

predicted gene 12253

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2381 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58323385-58332448 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58326284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 100 (R100C)

Ref Sequence

ENSEMBL: ENSMUSP00000104453 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108825]

AlphaFold

Q5NC48

Predicted Effect

probably damaging
Transcript: ENSMUST00000108825
AA Change: R100C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104453
Gene: ENSMUSG00000058287
AA Change: R100C

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd248	G	T	19: 5,119,221 (GRCm39)	M356I	possibly damaging	Het
Cul4a	T	C	8: 13,186,887 (GRCm39)	V541A	probably benign	Het
Dnajb1	T	A	8: 84,336,971 (GRCm39)	F147Y	possibly damaging	Het
Dnhd1	A	G	7: 105,342,871 (GRCm39)	K1405R	probably benign	Het
Dpys	C	A	15: 39,705,450 (GRCm39)	R221L	probably damaging	Het
Elapor2	C	T	5: 9,430,342 (GRCm39)	P84L	probably damaging	Het
Inppl1	A	T	7: 101,478,439 (GRCm39)	S592R	probably damaging	Het
Lct	G	A	1: 128,231,858 (GRCm39)	Q664*	probably null	Het
Or7g28	T	A	9: 19,271,753 (GRCm39)	E299D	probably benign	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Pnpla7	A	C	2: 24,870,770 (GRCm39)	K80T	probably damaging	Het
Ppp4r3c1	T	C	X: 88,974,116 (GRCm39)	I694V	probably benign	Het
Slc4a1	T	C	11: 102,250,128 (GRCm39)	D105G	probably benign	Het
Tpo	A	G	12: 30,181,826 (GRCm39)	I23T	possibly damaging	Het
Unc5c	A	G	3: 141,383,916 (GRCm39)	E98G	probably damaging	Het
Usp13	G	A	3: 32,935,658 (GRCm39)		probably null	Het
Vmn1r175	G	A	7: 23,508,093 (GRCm39)	T178I	probably benign	Het
Zgrf1	A	T	3: 127,349,863 (GRCm39)	M15L	probably benign	Het

Other mutations in Gm12253

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01923:Gm12253	APN	11	58,325,727 (GRCm39)	critical splice donor site	probably null
IGL01993:Gm12253	APN	11	58,325,379 (GRCm39)	missense	probably damaging	0.99
R0281:Gm12253	UTSW	11	58,330,838 (GRCm39)	splice site	probably benign
R0905:Gm12253	UTSW	11	58,330,846 (GRCm39)	splice site	probably benign
R4361:Gm12253	UTSW	11	58,325,687 (GRCm39)	missense	probably benign	0.01
R8956:Gm12253	UTSW	11	58,327,605 (GRCm39)	missense	probably benign	0.00
R9509:Gm12253	UTSW	11	58,330,771 (GRCm39)	missense	probably benign	0.01
Z1186:Gm12253	UTSW	11	58,325,658 (GRCm39)	missense	probably benign	0.00
Z1186:Gm12253	UTSW	11	58,325,367 (GRCm39)	missense	possibly damaging	0.87
Z1186:Gm12253	UTSW	11	58,331,835 (GRCm39)	missense	possibly damaging	0.73
Z1186:Gm12253	UTSW	11	58,326,309 (GRCm39)	missense	probably benign	0.00
Z1186:Gm12253	UTSW	11	58,326,237 (GRCm39)	missense	probably benign	0.00
Z1186:Gm12253	UTSW	11	58,325,686 (GRCm39)	missense	probably benign	0.01
Z1187:Gm12253	UTSW	11	58,325,658 (GRCm39)	missense	probably benign	0.00
Z1187:Gm12253	UTSW	11	58,325,367 (GRCm39)	missense	possibly damaging	0.87
Z1187:Gm12253	UTSW	11	58,331,835 (GRCm39)	missense	possibly damaging	0.73
Z1187:Gm12253	UTSW	11	58,326,309 (GRCm39)	missense	probably benign	0.00
Z1187:Gm12253	UTSW	11	58,326,237 (GRCm39)	missense	probably benign	0.00
Z1187:Gm12253	UTSW	11	58,325,686 (GRCm39)	missense	probably benign	0.01
Z1188:Gm12253	UTSW	11	58,325,686 (GRCm39)	missense	probably benign	0.01
Z1188:Gm12253	UTSW	11	58,326,237 (GRCm39)	missense	probably benign	0.00
Z1188:Gm12253	UTSW	11	58,326,309 (GRCm39)	missense	probably benign	0.00
Z1188:Gm12253	UTSW	11	58,331,835 (GRCm39)	missense	possibly damaging	0.73
Z1188:Gm12253	UTSW	11	58,325,367 (GRCm39)	missense	possibly damaging	0.87
Z1188:Gm12253	UTSW	11	58,325,658 (GRCm39)	missense	probably benign	0.00
Z1189:Gm12253	UTSW	11	58,325,658 (GRCm39)	missense	probably benign	0.00
Z1189:Gm12253	UTSW	11	58,325,367 (GRCm39)	missense	possibly damaging	0.87
Z1189:Gm12253	UTSW	11	58,331,835 (GRCm39)	missense	possibly damaging	0.73
Z1189:Gm12253	UTSW	11	58,326,309 (GRCm39)	missense	probably benign	0.00
Z1189:Gm12253	UTSW	11	58,326,237 (GRCm39)	missense	probably benign	0.00
Z1189:Gm12253	UTSW	11	58,325,686 (GRCm39)	missense	probably benign	0.01
Z1190:Gm12253	UTSW	11	58,325,658 (GRCm39)	missense	probably benign	0.00
Z1190:Gm12253	UTSW	11	58,325,367 (GRCm39)	missense	possibly damaging	0.87
Z1190:Gm12253	UTSW	11	58,331,835 (GRCm39)	missense	possibly damaging	0.73
Z1190:Gm12253	UTSW	11	58,326,309 (GRCm39)	missense	probably benign	0.00
Z1190:Gm12253	UTSW	11	58,326,237 (GRCm39)	missense	probably benign	0.00
Z1190:Gm12253	UTSW	11	58,325,686 (GRCm39)	missense	probably benign	0.01
Z1191:Gm12253	UTSW	11	58,325,658 (GRCm39)	missense	probably benign	0.00
Z1191:Gm12253	UTSW	11	58,325,367 (GRCm39)	missense	possibly damaging	0.87
Z1191:Gm12253	UTSW	11	58,331,835 (GRCm39)	missense	possibly damaging	0.73
Z1191:Gm12253	UTSW	11	58,326,309 (GRCm39)	missense	probably benign	0.00
Z1191:Gm12253	UTSW	11	58,326,237 (GRCm39)	missense	probably benign	0.00
Z1191:Gm12253	UTSW	11	58,325,686 (GRCm39)	missense	probably benign	0.01
Z1192:Gm12253	UTSW	11	58,325,658 (GRCm39)	missense	probably benign	0.00
Z1192:Gm12253	UTSW	11	58,325,367 (GRCm39)	missense	possibly damaging	0.87
Z1192:Gm12253	UTSW	11	58,331,835 (GRCm39)	missense	possibly damaging	0.73
Z1192:Gm12253	UTSW	11	58,326,309 (GRCm39)	missense	probably benign	0.00
Z1192:Gm12253	UTSW	11	58,326,237 (GRCm39)	missense	probably benign	0.00
Z1192:Gm12253	UTSW	11	58,325,686 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AAGGGACAGACTCATTACCACTG -3'
(R):5'- AGAAGGGCCTGTGTGTAACTC -3'

Sequencing Primer
(F):5'- AGACTCATTACCACTGGATGCTTG -3'
(R):5'- AGGGCCTGTGTGTAACTCAAACC -3'

Posted On

2014-11-11