Mutagenetix > Incidental Mutation

Incidental Mutation 'R9583:Gm21119'

722660

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 #

R9583 (G1)

Quality Score

150.008

Status

Not validated

Chromosome

Chromosomal Location

20614919-20640703 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20634946 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 285 (F285I)

Ref Sequence

ENSEMBL: ENSMUSP00000137434 (fasta)

Gene Model

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

AlphaFold

Q8C646

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178438
AA Change: F285I

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000137434
Gene: ENSMUSG00000095294
AA Change: F285I

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,581,642	M661R	possibly damaging	Het
2310057J18Rik	A	T	10: 28,986,096	I66N	probably damaging	Het
4933416C03Rik	A	T	10: 116,113,026	D198E	probably benign	Het
Adgrg3	A	T	8: 95,033,443	I97F	probably benign	Het
AI987944	T	A	7: 41,374,513	R350S	probably benign	Het
Arap3	T	C	18: 37,976,043	T1214A	probably damaging	Het
Arid5a	A	G	1: 36,317,658	E127G	possibly damaging	Het
Bbx	T	C	16: 50,224,557	E547G	possibly damaging	Het
Ceacam16	T	C	7: 19,853,878	I322V	probably damaging	Het
Chd2	G	T	7: 73,480,482	N808K	probably damaging	Het
Copg2	A	C	6: 30,810,464	L615*	probably null	Het
Cyp21a1	A	G	17: 34,803,043	L221P	probably damaging	Het
Dnah9	C	A	11: 65,965,681	V2885L	probably damaging	Het
Dnajb13	A	G	7: 100,503,239	L290P	probably damaging	Het
Eif3e	A	G	15: 43,265,561	V221A	probably damaging	Het
Evc	G	A	5: 37,316,357	R511*	probably null	Het
Far2	C	T	6: 148,157,936	P250S	probably damaging	Het
Fmo1	T	A	1: 162,859,427	T44S		Het
Grid1	A	G	14: 35,580,535	E919G	possibly damaging	Het
Grip1	G	A	10: 120,038,664	E778K	possibly damaging	Het
Hoxb2	A	G	11: 96,351,899	E30G	probably damaging	Het
Il5ra	G	A	6: 106,712,370	P75L	unknown	Het
Il5ra	T	A	6: 106,744,336	M1L	possibly damaging	Het
Inpp4b	T	C	8: 81,770,926		probably null	Het
Itgb8	T	A	12: 119,189,973	H269L	possibly damaging	Het
Jrk	G	A	15: 74,706,554	A294V	probably damaging	Het
Knl1	A	T	2: 119,057,301	D2V	probably damaging	Het
Lrrc71	T	C	3: 87,742,951	I272V	possibly damaging	Het
Mdn1	T	C	4: 32,741,372	S3825P	probably damaging	Het
Mex3d	C	A	10: 80,382,295	V363L		Het
Mfsd13b	C	A	7: 120,998,911	H347N	possibly damaging	Het
Mllt1	G	T	17: 56,902,572	H179Q	probably benign	Het
Mmp14	A	T	14: 54,440,612	R563S	probably benign	Het
Ms4a18	T	C	19: 10,997,350	T326A	probably benign	Het
Muc16	T	C	9: 18,638,677	D5440G	probably benign	Het
Muc2	A	T	7: 141,746,822	E294V		Het
Myh7b	A	G	2: 155,617,721	N241S	probably damaging	Het
Myo1b	T	C	1: 51,757,245	I1007V	possibly damaging	Het
Olfr1250	A	G	2: 89,656,661	V260A	possibly damaging	Het
Olfr16	T	C	1: 172,957,326	F177S	probably damaging	Het
Olfr952	T	A	9: 39,426,555	D172V	possibly damaging	Het
Pan2	T	C	10: 128,304,266	S19P	probably benign	Het
Pkn3	A	G	2: 30,086,711	D588G	probably null	Het
Pkp4	A	G	2: 59,347,760	N988D	possibly damaging	Het
Plxdc1	T	C	11: 97,934,018	D344G	probably damaging	Het
Plxna4	C	T	6: 32,215,234	R807H	possibly damaging	Het
Prdm15	A	T	16: 97,821,942	S237T	probably benign	Het
Slc9a2	G	A	1: 40,681,901	V10M	probably benign	Het
Sytl2	T	C	7: 90,375,592	S263P	probably benign	Het
Trrap	G	A	5: 144,840,520	V3043M	probably damaging	Het
Tshz3	C	T	7: 36,771,067	T827I	possibly damaging	Het
Ttll1	T	C	15: 83,500,025	T134A	possibly damaging	Het
Vmn1r196	G	T	13: 22,293,750	M186I	probably damaging	Het
Vrk2	C	T	11: 26,483,157		probably null	Het
Zfp59	T	A	7: 27,855,058	V645E	probably benign	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
R9575:Gm21119	UTSW	8	20619074	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCGCTATCAGACTGTGAGAGTTC -3'
(R):5'- GAACTACACTGAGCAAGTTTCC -3'

Sequencing Primer
(F):5'- CAGACTGTGAGAGTTCATTTAGGATC -3'
(R):5'- GACACAGGTCTCAAAGTAC -3'

Posted On

2022-08-09