Mutagenetix > Incidental Mutation

Incidental Mutation 'R9575:Gm21119'

722241

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 #

R9575 (G1)

Quality Score

103.008

Status

Not validated

Chromosome

Chromosomal Location

20614919-20640703 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20619074 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 148 (D148V)

Ref Sequence

ENSEMBL: ENSMUSP00000137434 (fasta)

Gene Model

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

AlphaFold

Q8C646

Predicted Effect

probably damaging
Transcript: ENSMUST00000178438
AA Change: D148V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000137434
Gene: ENSMUSG00000095294
AA Change: D148V

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
B4galt4	T	C	16: 38,763,151	Y253H	probably damaging	Het
C330027C09Rik	T	A	16: 49,018,391	M857K	probably benign	Het
Catsperd	A	G	17: 56,628,231	R15G	unknown	Het
Cep350	G	A	1: 155,875,367	P2020S	probably benign	Het
Fancm	T	A	12: 65,105,540	D923E	possibly damaging	Het
Fastk	A	G	5: 24,445,069	S27P	probably benign	Het
Flnc	A	G	6: 29,454,400	H1937R	probably damaging	Het
Gfm2	T	C	13: 97,149,398	W132R	probably damaging	Het
Grhl1	T	C	12: 24,586,083	I348T	probably damaging	Het
Gstcd	G	T	3: 132,998,947	H515Q	probably damaging	Het
Igsf3	A	G	3: 101,431,309	Y313C	probably damaging	Het
Mbtd1	G	A	11: 93,908,938		probably null	Het
Myo9a	T	C	9: 59,905,907	S2130P	probably damaging	Het
Olfr139	A	T	11: 74,045,014	C87S	probably benign	Het
Plpp4	T	A	7: 129,323,487	F149I	probably benign	Het
Poglut1	T	C	16: 38,542,923	T165A	probably benign	Het
Rhbdf1	A	G	11: 32,213,101	I425T	probably benign	Het
Sf3a2	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	10: 80,804,437		probably benign	Het
Slc6a9	T	C	4: 117,857,406	S175P	probably benign	Het
Slitrk3	C	T	3: 73,048,794	G882S	probably benign	Het
Spag9	A	G	11: 94,071,583	I356M	probably damaging	Het
Spef2	A	T	15: 9,596,586	L1459Q	probably damaging	Het
Tenm3	A	T	8: 48,235,761	F2264I	possibly damaging	Het
Vmn2r3	T	C	3: 64,271,314	N510S	probably benign	Het
Zfp866	A	T	8: 69,766,638	C111S	probably damaging	Het
Zfp971	T	A	2: 178,033,510	C301S	probably damaging	Het
Zfp976	T	C	7: 42,612,617	T600A	unknown	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
R8793:Gm21119	UTSW	8	20619037	missense	probably benign	0.02
R9583:Gm21119	UTSW	8	20634946	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- GGTTCTTGAAAGACCTTGTGTC -3'
(R):5'- AAATGCATGAGCTTCTGTGTG -3'

Sequencing Primer
(F):5'- GTGATAATATGCAGAAGTGGAACTC -3'
(R):5'- TGTAGAAAATAGATGTGCGTGTCAC -3'

Posted On

2022-08-09