Mutagenetix > Incidental Mutation

Incidental Mutation 'R7254:Gm21886'

564166

Institutional Source

Beutler Lab

Gene Symbol

Gm21886

Ensembl Gene

ENSMUSG00000096597

Gene Name

predicted gene, 21886

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R7254 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80089297-80089962 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 80089735 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 69 (C69*)

Ref Sequence

ENSEMBL: ENSMUSP00000136060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070219] [ENSMUST00000178391]

AlphaFold

J3QJU9

Predicted Effect

probably benign
Transcript: ENSMUST00000070219

SMART Domains

Protein: ENSMUSP00000069182
Gene: ENSMUSG00000056214

Domain	Start	End	E-Value	Type
PB1	18	98	1.16e-16	SMART
PDZ	168	251	8.6e-14	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000178391
AA Change: C69*

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,741,976	I677V	probably benign	Het
4931406B18Rik	A	T	7: 43,498,199	D249E	probably damaging	Het
Acacb	A	C	5: 114,209,751		probably null	Het
Adnp	A	G	2: 168,183,998	V459A	probably damaging	Het
Arid3b	T	C	9: 57,796,754	K304E	probably damaging	Het
Ash1l	G	T	3: 89,070,509	R2713L	probably damaging	Het
Bmpr1a	A	C	14: 34,414,763	D490E	probably benign	Het
Cacna1g	A	T	11: 94,432,567	C1270*	probably null	Het
Cep295nl	G	T	11: 118,333,040	P326Q	probably damaging	Het
Cfap100	T	C	6: 90,406,061	I377V	unknown	Het
Creb1	C	T	1: 64,576,277	Q223*	probably null	Het
Ctsc	G	A	7: 88,309,559	G349D	probably damaging	Het
Ddx41	G	A	13: 55,533,956	R311*	probably null	Het
Dse	T	A	10: 34,184,148		probably benign	Het
Eef2k	C	T	7: 120,889,265	H458Y	probably benign	Het
Gipr	A	T	7: 19,163,613	V90E	probably damaging	Het
Gm14412	A	T	2: 177,317,396	D22E	probably damaging	Het
Gm17018	A	G	19: 45,577,034	Q149R	probably benign	Het
Gm5114	G	A	7: 39,408,966	L410F	probably benign	Het
Gmip	T	A	8: 69,816,468		probably null	Het
Gtf2f1	T	C	17: 57,007,101	T128A	possibly damaging	Het
Hnrnpr	A	G	4: 136,332,575	E330G	possibly damaging	Het
Hoxd9	T	A	2: 74,698,374	W107R	probably damaging	Het
Iars	T	C	13: 49,723,078		probably null	Het
Idh2	TCCCAGGGCC	TCC	7: 80,098,331		probably null	Het
Ifi213	G	T	1: 173,593,963	P120Q	probably damaging	Het
Il6	A	T	5: 30,014,908	Q94L	probably benign	Het
Kcnab1	A	G	3: 65,319,487	S196G	probably benign	Het
Kcnv1	C	T	15: 45,113,208	V228I	probably benign	Het
Lars2	A	G	9: 123,454,963	T739A	possibly damaging	Het
Med13	T	C	11: 86,319,835	S494G	probably benign	Het
Mtrf1	GCCTTC	GC	14: 79,423,491		probably null	Het
Myh9	T	G	15: 77,765,824	Q1646P	probably damaging	Het
Nif3l1	T	A	1: 58,450,466	S171R	probably benign	Het
Olfr143	T	C	9: 38,253,423	M2T	probably benign	Het
Olfr1467	A	T	19: 13,365,111	D161V	probably benign	Het
Olfr376	A	G	11: 73,375,375	I212V	probably benign	Het
Olfr398	A	G	11: 73,983,777	V277A	probably benign	Het
Olfr564	A	G	7: 102,803,558	T27A	probably benign	Het
Olfr702	A	G	7: 106,823,570	*319Q	probably null	Het
Olfr785	T	C	10: 129,409,780	V138A	probably benign	Het
Pak7	A	T	2: 136,116,764	S135T	possibly damaging	Het
Prr29	A	T	11: 106,374,858	M1L	probably damaging	Het
Ptpn13	T	A	5: 103,594,636	V2407E	probably damaging	Het
Ralgapa1	T	A	12: 55,695,193	H1310L	probably damaging	Het
Raph1	T	C	1: 60,499,608	S393G	unknown	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Ror2	A	G	13: 53,118,720	I303T	possibly damaging	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Scn10a	C	T	9: 119,618,855	D1378N	probably damaging	Het
Serpinc1	T	A	1: 160,993,618	C91S	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Tada1	T	A	1: 166,388,648	C139*	probably null	Het
Tbr1	T	A	2: 61,806,042	V254E	probably damaging	Het
Timd4	A	T	11: 46,843,189	I340F	probably benign	Het
Tubb2a	T	C	13: 34,074,532	Y425C	probably damaging	Het
Wdr60	A	G	12: 116,262,585		probably benign	Het
Zfp292	A	T	4: 34,819,476	M287K	probably damaging	Het

Other mutations in Gm21886

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1679:Gm21886	UTSW	18	80089739	missense	probably damaging	1.00
R1902:Gm21886	UTSW	18	80089418	missense	probably damaging	1.00
R3779:Gm21886	UTSW	18	80089434	missense	possibly damaging	0.94
R7146:Gm21886	UTSW	18	80089482	small deletion	probably benign
R7405:Gm21886	UTSW	18	80089825	small deletion	probably benign
R7412:Gm21886	UTSW	18	80089752	small deletion	probably benign
R7427:Gm21886	UTSW	18	80089652	missense	probably damaging	1.00
R7428:Gm21886	UTSW	18	80089652	missense	probably damaging	1.00
R7526:Gm21886	UTSW	18	80089825	small deletion	probably benign
R7756:Gm21886	UTSW	18	80089825	small deletion	probably benign
R7880:Gm21886	UTSW	18	80089825	small deletion	probably benign
R7891:Gm21886	UTSW	18	80089757	missense	probably null	0.17
R8026:Gm21886	UTSW	18	80089746	missense	probably damaging	1.00
R8295:Gm21886	UTSW	18	80089825	small deletion	probably benign
R8950:Gm21886	UTSW	18	80089825	small deletion	probably benign
R9659:Gm21886	UTSW	18	80089561	small deletion	probably benign
R9731:Gm21886	UTSW	18	80089825	small deletion	probably benign
Z1176:Gm21886	UTSW	18	80089387	nonsense	probably null
Z1176:Gm21886	UTSW	18	80089923	missense	probably damaging	1.00
Z1191:Gm21886	UTSW	18	80089825	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- CATAGAGGCCTGCAGACAGTAG -3'
(R):5'- ACCTACTGTCTGCAGGTCTCAG -3'

Sequencing Primer
(F):5'- CTGCAGACAGTAGGTGCTCACTAG -3'
(R):5'- AGGTCTCAGTGAGCACCTACTG -3'

Posted On

2019-06-26