Mutagenetix > Incidental Mutation

Incidental Mutation 'R8793:Gm21119'

671054

Institutional Source

Beutler Lab

Gene Symbol

Gm21119

Ensembl Gene

ENSMUSG00000095294

Gene Name

predicted gene, 21119

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Not available question?

Stock #

R8793 (G1)

Quality Score

88.0076

Status

Not validated

Chromosome

Chromosomal Location

20614919-20640703 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20619037 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 136 (V136I)

Ref Sequence

ENSEMBL: ENSMUSP00000137434 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178438]

AlphaFold

Q8C646

Predicted Effect

probably benign
Transcript: ENSMUST00000178438
AA Change: V136I

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000137434
Gene: ENSMUSG00000095294
AA Change: V136I

Domain	Start	End	E-Value	Type
ANK	84	113	9.41e-6	SMART
ANK	117	146	1.48e-3	SMART
ANK	150	179	6.76e-7	SMART
ANK	183	212	1.4e1	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	C	3: 60,038,383	D158A	probably damaging	Het
Acot7	G	A	4: 152,199,923	V17I	probably benign	Het
Aes	T	C	10: 81,561,318		probably null	Het
Akap13	A	G	7: 75,725,328	T184A	probably benign	Het
Ankrd31	T	A	13: 96,831,713	D619E	probably damaging	Het
Arap3	A	G	18: 37,974,439	F1342L	probably benign	Het
Arfgef1	G	C	1: 10,142,607	N1696K	possibly damaging	Het
Asap2	A	G	12: 21,168,211	D45G	probably damaging	Het
Atp8b4	T	A	2: 126,389,334	M456L	probably benign	Het
Bag5	A	T	12: 111,710,921	I156N	possibly damaging	Het
Banp	T	A	8: 122,024,004	V478E	probably benign	Het
BC024063	A	T	10: 82,109,518	H324L	probably benign	Het
Bms1	T	A	6: 118,383,823	K1228M	probably damaging	Het
Btaf1	A	G	19: 36,981,029	K649E	probably benign	Het
Cpox	C	A	16: 58,673,345	P226Q	probably damaging	Het
Cux1	A	G	5: 136,565,685	S5P	unknown	Het
Dock2	G	T	11: 34,501,215	Q837K	probably benign	Het
Fam171a1	T	C	2: 3,186,498	I134T	probably damaging	Het
Gm13103	A	G	4: 143,851,057		probably benign	Het
Gm2832	A	G	14: 41,281,769	T186A		Het
Gm8246	T	C	14: 5,476,822	E93G	probably damaging	Het
Grid2ip	C	T	5: 143,377,641	T463M	probably damaging	Het
Mael	G	A	1: 166,201,688	R389C	probably benign	Het
Myo9a	C	A	9: 59,884,567	Q1818K	probably benign	Het
Nwd1	A	G	8: 72,693,076	D963G	probably benign	Het
Olfr123	T	C	17: 37,796,364	S307P	probably benign	Het
Olfr273	A	G	4: 52,856,490	F8L	probably benign	Het
Pappa2	A	T	1: 158,851,161	V895E	probably damaging	Het
Pcna	T	C	2: 132,251,273	T185A	probably benign	Het
Pip4k2c	A	G	10: 127,206,661	F108L	probably damaging	Het
Pole	T	A	5: 110,297,748	S497T	probably damaging	Het
Ppp1r12c	A	G	7: 4,482,888	V653A	probably benign	Het
Ryr1	A	T	7: 29,064,859	V3072E	probably damaging	Het
Sh3bgr	G	A	16: 96,224,592		probably null	Het
Slc27a5	A	C	7: 12,989,369	L550R	probably benign	Het
Strip2	C	T	6: 29,956,816	P815S	probably benign	Het
Tarsl2	G	T	7: 65,644,925		probably benign	Het
Tmem237	G	T	1: 59,107,454	L337M	probably damaging	Het
Ttn	T	C	2: 76,725,162	M30500V	probably benign	Het
Ube2u	T	C	4: 100,479,219	F13S	probably damaging	Het
Ugcg	A	C	4: 59,207,794	K44N	probably benign	Het
Vmn2r39	A	T	7: 9,025,150	H407Q	probably damaging	Het

Other mutations in Gm21119

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6667:Gm21119	UTSW	8	20621939	missense	probably benign
R8529:Gm21119	UTSW	8	20619158	missense	possibly damaging	0.92
R9575:Gm21119	UTSW	8	20619074	missense	probably damaging	0.99
R9583:Gm21119	UTSW	8	20634946	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- CTACCACTGGGAAAGAGATGTG -3'
(R):5'- CCCTGGGAATGAAGTTGAGTG -3'

Sequencing Primer
(F):5'- CCTGGGGGTTCTTGAAAGACC -3'
(R):5'- GGAATGAAGTTGAGTGATCTTTACC -3'

Posted On

2021-04-30