Mutagenetix > Incidental Mutation

Incidental Mutation 'R9337:Gm13283'

707228

Institutional Source

Beutler Lab

Gene Symbol

Gm13283

Ensembl Gene

ENSMUSG00000100505

Gene Name

predicted gene 13283

Synonyms

EG545645

MMRRC Submission

Accession Numbers

Essential gene?

Not available question?

Stock #

R9337 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88679011-88679821 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88679036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 9 (V9E)

Ref Sequence

ENSEMBL: ENSMUSP00000139768 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000191112]

AlphaFold

A0A087WPG5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000191112
AA Change: V9E

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000139768
Gene: ENSMUSG00000100505
AA Change: V9E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IFabd	58	170	1.65e-11	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Adad1	T	C	3: 37,139,247 (GRCm39)	V439A	possibly damaging	Het
Ahnak	G	A	19: 8,989,824 (GRCm39)		probably benign	Het
Arhgef10l	G	A	4: 140,338,624 (GRCm39)	T46I	probably damaging	Het
C3ar1	A	G	6: 122,827,278 (GRCm39)	V313A	probably benign	Het
Capn13	T	A	17: 73,633,467 (GRCm39)		probably null	Het
Ccdc30	T	A	4: 119,190,920 (GRCm39)		probably null	Het
Ccdc7a	T	C	8: 129,616,319 (GRCm39)	Q928R	probably benign	Het
Cept1	A	G	3: 106,412,575 (GRCm39)	L299S	possibly damaging	Het
Clba1	T	C	12: 112,775,898 (GRCm39)	L218P	probably damaging	Het
Cnot1	T	C	8: 96,468,448 (GRCm39)	I1460M	probably damaging	Het
Col4a2	T	C	8: 11,479,346 (GRCm39)	L743P	probably benign	Het
Cop1	T	C	1: 159,072,221 (GRCm39)	V179A	probably benign	Het
Cpvl	A	G	6: 53,909,479 (GRCm39)	I219T	probably damaging	Het
Cyc1	T	C	15: 76,228,506 (GRCm39)	V45A	probably benign	Het
Dnhd1	T	A	7: 105,369,806 (GRCm39)	N4410K	probably benign	Het
Dok4	T	A	8: 95,593,469 (GRCm39)	T106S	probably benign	Het
Exosc10	T	C	4: 148,665,588 (GRCm39)	F842L	probably damaging	Het
Fam24b	T	A	7: 130,927,949 (GRCm39)	Y80F	probably benign	Het
Fbn2	G	A	18: 58,342,723 (GRCm39)	A52V	probably benign	Het
Gal3st3	A	T	19: 5,356,868 (GRCm39)	N81I	probably damaging	Het
Gm17026	A	G	14: 42,080,873 (GRCm39)	S58P		Het
Grm8	A	T	6: 27,761,214 (GRCm39)	S337T	probably benign	Het
Hdac5	G	A	11: 102,096,178 (GRCm39)	P332S	probably damaging	Het
Hr	A	T	14: 70,797,324 (GRCm39)	E519V	probably benign	Het
Hspbap1	A	G	16: 35,645,395 (GRCm39)	H360R	probably benign	Het
Iqgap3	T	G	3: 88,023,425 (GRCm39)		probably null	Het
Krtap5-3	T	A	7: 141,756,267 (GRCm39)	H175Q	unknown	Het
Lrrn4	A	T	2: 132,712,552 (GRCm39)	S424T	probably benign	Het
Lsm10	C	A	4: 125,991,660 (GRCm39)	H5Q	probably damaging	Het
Megf10	A	T	18: 57,394,252 (GRCm39)	K459*	probably null	Het
Myo15b	A	C	11: 115,749,861 (GRCm39)	K210N		Het
Or12e7	T	A	2: 87,287,527 (GRCm39)	I6N	probably benign	Het
Or8k38	T	C	2: 86,488,476 (GRCm39)	T109A	probably benign	Het
Park7	A	T	4: 150,991,553 (GRCm39)	C46S	probably damaging	Het
Pik3cb	A	G	9: 98,943,844 (GRCm39)	F653S	probably damaging	Het
Plekha1	T	A	7: 130,511,348 (GRCm39)	C311S	possibly damaging	Het
Pprc1	T	A	19: 46,052,198 (GRCm39)	M576K	unknown	Het
Prelid3b	G	A	2: 174,310,161 (GRCm39)	T74M	probably benign	Het
Prg4	T	C	1: 150,327,116 (GRCm39)	Y311C	probably damaging	Het
Prom2	A	C	2: 127,371,094 (GRCm39)	V801G	probably damaging	Het
Psmd9	T	A	5: 123,386,387 (GRCm39)	V44D	probably damaging	Het
Ptpn3	C	G	4: 57,218,521 (GRCm39)	L647F	probably damaging	Het
Ptprj	T	C	2: 90,270,238 (GRCm39)	D1286G	probably damaging	Het
Rcc2	T	C	4: 140,445,689 (GRCm39)	I449T	probably damaging	Het
Rev3l	A	T	10: 39,698,850 (GRCm39)	S1116C	probably benign	Het
Rnf212	A	T	5: 108,922,755 (GRCm39)	S32T	possibly damaging	Het
Rnf40	T	A	7: 127,188,172 (GRCm39)	S2T	probably benign	Het
Rrp8	T	C	7: 105,383,384 (GRCm39)	D294G	probably damaging	Het
Rtf2	A	T	2: 172,308,205 (GRCm39)	K201N	probably damaging	Het
Runx3	A	G	4: 134,890,574 (GRCm39)	T173A	probably damaging	Het
Sardh	T	C	2: 27,086,678 (GRCm39)	I827M	probably benign	Het
Sec22b	T	C	3: 97,828,494 (GRCm39)	Y186H	probably benign	Het
Serpina5	C	T	12: 104,071,542 (GRCm39)	T383I	possibly damaging	Het
Slc12a2	A	G	18: 58,063,238 (GRCm39)	D906G	probably damaging	Het
Socs1	T	C	16: 10,602,578 (GRCm39)	D53G	possibly damaging	Het
Stat1	G	T	1: 52,191,429 (GRCm39)	A595S	probably benign	Het
Stat3	A	T	11: 100,798,815 (GRCm39)		probably null	Het
Styxl1	T	C	5: 135,794,592 (GRCm39)	S82G	probably benign	Het
Taf1b	T	A	12: 24,597,121 (GRCm39)	D353E	possibly damaging	Het
Tbce	T	C	13: 14,194,398 (GRCm39)	K87R	probably benign	Het
Thada	T	C	17: 84,749,205 (GRCm39)	M589V	probably benign	Het
Them5	A	G	3: 94,254,048 (GRCm39)	M257V	unknown	Het
Tln1	A	T	4: 43,532,927 (GRCm39)	I2425N	probably damaging	Het
Tuba8	A	G	6: 121,202,823 (GRCm39)	S379G	probably damaging	Het
Vrk1	T	C	12: 106,024,957 (GRCm39)		probably null	Het
Zbtb34	T	C	2: 33,301,716 (GRCm39)	Y275C	probably damaging	Het
Zcwpw1	T	C	5: 137,799,274 (GRCm39)	C214R	probably benign	Het
Zeb2	A	G	2: 44,912,912 (GRCm39)	V137A	probably benign	Het

Other mutations in Gm13283

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02140:Gm13283	APN	4	88,679,272 (GRCm39)	missense	probably benign	0.05
R7215:Gm13283	UTSW	4	88,678,967 (GRCm39)	start gained	probably benign
R8931:Gm13283	UTSW	4	88,679,516 (GRCm39)	missense	probably benign	0.01
R8945:Gm13283	UTSW	4	88,679,123 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ATGGATGGGGTACAGTCCTG -3'
(R):5'- GTTCCTTCCTTCCAGGGACATG -3'

Sequencing Primer
(F):5'- TACAGTCCTGTACGCGAAGG -3'
(R):5'- TTCCTTCCAGGGACATGGGAAATC -3'

Posted On

2022-04-18