Mutagenetix > Incidental Mutation

Incidental Mutation 'R8529:Gm21119'

658944

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 #

R8529 (G1)

Quality Score

117.008

Status

Not validated

Chromosome

Chromosomal Location

20614919-20640703 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20619158 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 176 (D176G)

Ref Sequence

ENSEMBL: ENSMUSP00000137434 (fasta)

Gene Model

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

AlphaFold

Q8C646

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178438
AA Change: D176G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137434
Gene: ENSMUSG00000095294
AA Change: D176G

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: 99.1%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	T	A	6: 41,032,435	Y155F	probably benign	Het
Acbd5	A	G	2: 23,080,692	Y173C	probably benign	Het
Ankrd55	A	T	13: 112,344,136	T192S	probably benign	Het
Apob	A	T	12: 8,007,353	H1912L	probably damaging	Het
BC051142	G	T	17: 34,460,169	C302F	possibly damaging	Het
Bcl2l11	T	C	2: 128,128,876	S82P	possibly damaging	Het
Bsn	G	A	9: 108,111,452	A2367V	probably benign	Het
Btnl10	A	T	11: 58,922,412	D289V	probably benign	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,099,982		probably benign	Het
Cdh11	G	A	8: 102,664,755	P283L	probably benign	Het
Crybg3	C	A	16: 59,556,621	K1423N	probably damaging	Het
Dgat1	T	A	15: 76,503,037	Y350F	probably damaging	Het
Dhx36	TCCGCCGCCGCCGCCGC	TCCGCCGCCGCCGC	3: 62,506,856		probably benign	Het
Edc4	A	G	8: 105,885,050	D86G	probably damaging	Het
Ep400	T	C	5: 110,719,236	Y1014C	unknown	Het
Erbb3	A	G	10: 128,583,200	V264A	probably damaging	Het
Fam149b	T	A	14: 20,358,302		probably null	Het
Foxc1	A	G	13: 31,808,537	S444G	unknown	Het
Gm2042	G	A	12: 87,960,086	S391N	possibly damaging	Het
Gm38394	T	C	1: 133,656,968	Y877C	probably benign	Het
Gnb3	A	T	6: 124,837,670	N88K	probably benign	Het
Ifnar2	T	A	16: 91,391,796	V157D	possibly damaging	Het
Il27	A	T	7: 126,592,805	L53Q	probably damaging	Het
Ints13	T	C	6: 146,563,428	E225G	probably damaging	Het
Itpr2	G	A	6: 146,329,553	R1167C	probably damaging	Het
Lrp2	A	T	2: 69,500,642	I1690K	probably damaging	Het
Lrrc37a	T	C	11: 103,457,547	E2774G	unknown	Het
Lyz2	A	T	10: 117,280,663	N93K	probably damaging	Het
Mki67	A	G	7: 135,713,959		probably null	Het
Mroh1	T	C	15: 76,427,632	F522L	probably benign	Het
Myo5a	A	G	9: 75,212,872	I1626V	probably benign	Het
Nav3	A	T	10: 109,853,331	S362T	probably benign	Het
Neurl4	C	T	11: 69,908,787	P972L	probably damaging	Het
Olfr1340	A	T	4: 118,726,573	T109S	probably benign	Het
Olfr151	A	T	9: 37,730,956	V9E	probably damaging	Het
Olfr266	A	T	3: 106,821,793	Y255*	probably null	Het
Prdm5	C	T	6: 65,901,845	R128C	probably damaging	Het
Prom1	A	T	5: 44,013,027		probably null	Het
Prrc2c	T	A	1: 162,709,094		probably benign	Het
Ptprd	T	C	4: 76,129,025	T322A	probably damaging	Het
Reg3d	C	G	6: 78,376,399	G154R	probably null	Het
Rsf1	A	G	7: 97,670,867		probably benign	Het
Ryr1	T	A	7: 29,070,084	T2724S	possibly damaging	Het
Sec63	A	G	10: 42,789,383	Y103C	probably damaging	Het
Serpinb9b	A	T	13: 33,039,560	D245V	probably benign	Het
Slc22a28	G	A	19: 8,063,413	T491I	probably benign	Het
Slc24a2	T	C	4: 87,028,280	N484S	possibly damaging	Het
Slc44a3	G	T	3: 121,525,685	L136I	probably benign	Het
Tff3	A	G	17: 31,129,486		probably null	Het
Tpp2	T	A	1: 43,983,140	D899E	probably benign	Het
Tsen54	G	T	11: 115,820,560	D268Y	possibly damaging	Het
Ttbk2	A	C	2: 120,773,857	V220G	possibly damaging	Het
Uggt1	A	G	1: 36,184,432	V592A	possibly damaging	Het
Usp49	A	T	17: 47,672,112	Q14L	probably damaging	Het
Vldlr	T	A	19: 27,230,256	L48Q	probably benign	Het
Zp3	C	A	5: 135,987,265	T282N	probably damaging	Het

Other mutations in Gm21119

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6667:Gm21119	UTSW	8	20621939	missense	probably benign
R8793:Gm21119	UTSW	8	20619037	missense	probably benign	0.02
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'- TGTACAATTTTACAGGCCACCC -3'
(R):5'- ATCAGTACCTTCTTTGCATCAACAC -3'

Sequencing Primer
(F):5'- CACCCAACGAGACAATGTGGATTG -3'
(R):5'- TAAAATCAAGGCCAATTCTGAGAC -3'

Posted On

2021-01-18