Mutagenetix > Incidental Mutation

Incidental Mutation 'R4393:Gm21738'

368386

Institutional Source

Beutler Lab

Gene Symbol

Gm21738

Ensembl Gene

ENSMUSG00000095280

Gene Name

predicted gene, 21738

Synonyms

MMRRC Submission

041128-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R4393 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

19415857-19418930 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 19417178 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 117 (L117V)

Ref Sequence

ENSEMBL: ENSMUSP00000137127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000177817]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000177817
AA Change: L117V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137127
Gene: ENSMUSG00000095280
AA Change: L117V

Domain	Start	End	E-Value	Type
internal_repeat_1	1	19	1.11e-9	PROSPERO
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	77	99	N/A	INTRINSIC
internal_repeat_1	117	135	1.11e-9	PROSPERO
transmembrane domain	152	174	N/A	INTRINSIC
low complexity region	179	195	N/A	INTRINSIC
transmembrane domain	198	220	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.5%
20x: 92.4%

Validation Efficiency

95% (71/75)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433N12Rik	C	A	9: 3,134,944		noncoding transcript	Het
Adgrg4	T	G	X: 56,932,343	L2193V	probably damaging	Het
Adgrl1	T	C	8: 83,938,593	V1353A	probably benign	Het
Casc1	T	C	6: 145,194,578	T166A	possibly damaging	Het
Cep68	A	T	11: 20,238,544	N620K	probably benign	Het
Clcnkb	A	G	4: 141,412,236	S152P	probably benign	Het
Crybg3	A	G	16: 59,560,095		probably benign	Het
Cyp26c1	G	A	19: 37,686,657	R142H	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dlg5	T	A	14: 24,177,989		probably null	Het
Ebf3	C	T	7: 137,225,157	R342H	probably damaging	Het
Ece2	T	C	16: 20,632,848	V380A	probably damaging	Het
Epb41l4a	C	T	18: 33,891,420		probably null	Het
Erbb3	G	T	10: 128,572,770	Q815K	probably damaging	Het
Ercc3	T	A	18: 32,265,621	M651K	probably benign	Het
Fam3b	C	A	16: 97,481,786		probably null	Het
Foxp2	A	C	6: 15,377,690		probably benign	Het
Gdf10	T	C	14: 33,932,738	Y401H	probably damaging	Het
Gm6408	A	T	5: 146,482,337	D54V	probably damaging	Het
Gm8909	C	A	17: 36,161,969		probably benign	Het
Hcn4	A	G	9: 58,844,300	E403G	unknown	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hjurp	A	G	1: 88,266,561		probably benign	Het
Hyou1	T	A	9: 44,381,872	V125E	probably damaging	Het
Il11ra1	T	C	4: 41,768,577		probably null	Het
Immt	T	A	6: 71,872,800	S435T	probably benign	Het
Kcnip2	A	G	19: 45,812,230	L19P	probably benign	Het
Kctd2	T	C	11: 115,429,500		probably benign	Het
Mdga1	T	C	17: 29,850,517	D185G	probably damaging	Het
Mdn1	C	T	4: 32,754,482	T4666M	possibly damaging	Het
Mfsd13a	C	T	19: 46,371,992	R328C	probably damaging	Het
Msl2	A	G	9: 101,101,477	E350G	probably damaging	Het
Muc4	C	A	16: 32,754,529	H1468N	probably benign	Het
Myo3a	A	T	2: 22,577,854	K373N	probably damaging	Het
Nr5a1	T	C	2: 38,694,219	E396G	probably damaging	Het
Ogdh	G	A	11: 6,316,772	G141D	probably damaging	Het
Olfr1133	A	T	2: 87,645,912	C70*	probably null	Het
Olfr1491	T	C	19: 13,705,190	I121T	possibly damaging	Het
Olfr92	T	C	17: 37,114,084		probably benign	Het
Orc2	C	A	1: 58,467,650		probably null	Het
P4ha3	C	T	7: 100,305,607	P291S	probably benign	Het
Pign	T	C	1: 105,522,026	K925R	probably benign	Het
Plekhm1	A	G	11: 103,376,965	S727P	possibly damaging	Het
Prr36	G	T	8: 4,214,901		probably benign	Het
Prrt3	A	G	6: 113,494,946	L755P	probably benign	Het
Secisbp2	A	G	13: 51,654,466	H89R	probably damaging	Het
Sgms2	A	T	3: 131,341,817		probably null	Het
Slc35d3	T	C	10: 19,849,606		probably null	Het
Slu7	T	A	11: 43,439,269	N174K	possibly damaging	Het
Teddm1a	G	T	1: 153,892,446	D219Y	probably damaging	Het
Tgtp1	C	A	11: 48,987,623	G85V	probably damaging	Het
Tmem51	T	C	4: 142,031,931	T169A	probably benign	Het
Tmem69	C	T	4: 116,554,767		probably null	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Ugt1a10	C	T	1: 88,215,123	P113L	probably damaging	Het
Vmn2r79	A	G	7: 87,001,891	H166R	possibly damaging	Het
Vwa3b	T	C	1: 37,045,178	V144A	probably damaging	Het
Zdhhc21	A	G	4: 82,847,654	C15R	possibly damaging	Het
Zfp142	T	C	1: 74,572,060	T756A	probably benign	Het
Zfp606	C	T	7: 12,492,849	S241F	probably damaging	Het
Zfp804a	A	T	2: 82,256,921	T365S	probably benign	Het

Other mutations in Gm21738

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Gm21738	APN	14	19418885	missense	probably benign
IGL01010:Gm21738	APN	14	19417361	missense	probably benign	0.03
IGL01018:Gm21738	APN	14	19418856	missense	probably benign	0.39
IGL01865:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01869:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01873:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01877:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01878:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01879:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01880:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01882:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01883:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01884:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01885:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01886:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01888:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01891:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01892:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01893:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01894:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01895:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01896:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01898:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01899:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01900:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01901:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01902:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01903:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01904:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01905:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01906:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01908:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01909:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01910:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01911:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01912:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01913:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01914:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01915:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01916:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01917:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01918:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01919:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01922:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01923:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01924:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01925:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01926:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01932:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01940:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01949:Gm21738	APN	14	19416979	missense	probably benign	0.01
PIT4131001:Gm21738	UTSW	14	19417330	missense	probably benign	0.00
PIT4142001:Gm21738	UTSW	14	19417330	missense	probably benign	0.00
R0831:Gm21738	UTSW	14	19415957	missense	probably benign	0.01
R0831:Gm21738	UTSW	14	19415963	missense	probably benign
R0976:Gm21738	UTSW	14	19415963	missense	probably benign
R1029:Gm21738	UTSW	14	19415957	missense	probably benign	0.01
R1146:Gm21738	UTSW	14	19415963	missense	probably benign
R1231:Gm21738	UTSW	14	19415957	missense	probably benign	0.01
R1231:Gm21738	UTSW	14	19415963	missense	probably benign
R1402:Gm21738	UTSW	14	19415957	missense	probably benign	0.01
R1402:Gm21738	UTSW	14	19415963	missense	probably benign
R1638:Gm21738	UTSW	14	19418908	missense	probably benign
R1874:Gm21738	UTSW	14	19418824	missense	possibly damaging	0.64
R4392:Gm21738	UTSW	14	19417178	missense	probably benign
R5049:Gm21738	UTSW	14	19415957	missense	probably benign	0.01
R5257:Gm21738	UTSW	14	19415942	missense	probably benign
R6756:Gm21738	UTSW	14	19418824	missense	possibly damaging	0.64
R6915:Gm21738	UTSW	14	19415933	missense	probably benign
V5622:Gm21738	UTSW	14	19417180	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTAGGACATGGAATATAGCGAGA -3'
(R):5'- ATTCCAGGTCCTACAGTGTGCAT -3'

Sequencing Primer
(F):5'- TGAGAAACATCCACTTGACGACTTG -3'
(R):5'- GCCATATTCCAGGTCCTACAGTGTG -3'

Posted On

2016-02-03