Mutagenetix > Incidental Mutation

Incidental Mutation 'R0976:Gm21738'

81189

Institutional Source

Beutler Lab

Gene Symbol

Gm21738

Ensembl Gene

ENSMUSG00000095280

Gene Name

predicted gene, 21738

Synonyms

MMRRC Submission

039105-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R0976 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

19415857-19418930 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19415963 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 192 (K192R)

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: K192R

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

SMART Domains

Protein: ENSMUSP00000137127
Gene: ENSMUSG00000095280
AA Change: K192R

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

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 97.6%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 184,033,505	S119N	probably benign	Het
Arap2	T	A	5: 62,649,884	I1147F	probably damaging	Het
Arl10	T	C	13: 54,575,808		probably benign	Het
Axin1	A	G	17: 26,188,086	E551G	probably damaging	Het
Ccr6	T	A	17: 8,256,422	L153Q	probably damaging	Het
Cntnap2	C	T	6: 47,271,230	P1190L	probably damaging	Het
Cul7	T	A	17: 46,663,190	L1467H	probably damaging	Het
Cux1	T	A	5: 136,313,290	D416V	probably damaging	Het
Cyp2c67	G	T	19: 39,643,374	F126L	probably damaging	Het
Cyp3a57	A	G	5: 145,390,468	I490V	probably benign	Het
Dsc1	T	C	18: 20,095,041		probably null	Het
Fam83f	T	A	15: 80,692,084	V312E	probably damaging	Het
Fsip2	A	G	2: 82,998,031	D6724G	possibly damaging	Het
Gabrr3	G	T	16: 59,461,524	C414F	probably benign	Het
Herc1	A	T	9: 66,439,878	K2005M	possibly damaging	Het
Hist2h2bb	T	A	3: 96,270,086	V112E	probably benign	Het
Isyna1	C	A	8: 70,596,286	N338K	probably damaging	Het
Kalrn	T	C	16: 34,385,390	D39G	probably damaging	Het
Mndal	T	A	1: 173,862,845	R306S	possibly damaging	Het
Nek2	A	G	1: 191,827,237	R285G	probably benign	Het
Nrg2	A	G	18: 36,021,091	I591T	probably benign	Het
Olfr52	A	G	2: 86,181,808	L101S	probably damaging	Het
Pcdh10	T	C	3: 45,380,801	S517P	probably damaging	Het
Pdcd2l	G	T	7: 34,196,346	D67E	probably benign	Het
Pex1	C	A	5: 3,633,943	D1146E	probably benign	Het
Pid1	A	T	1: 84,159,225	Y62N	probably benign	Het
Ppp4r1	T	C	17: 65,841,018	*935R	probably null	Het
Stag1	T	C	9: 100,776,824	F155L	probably damaging	Het
Stag1	G	A	9: 100,930,016		probably null	Het
Taok2	C	T	7: 126,875,151	R302Q	possibly damaging	Het
Tbc1d8	A	G	1: 39,406,801	V103A	probably damaging	Het
Terf2ip	T	A	8: 112,011,717	I79N	probably damaging	Het
Tgfb3	G	A	12: 86,069,832	T144I	probably damaging	Het
Top1	A	G	2: 160,717,423	N622S	possibly damaging	Het
Trappc9	T	A	15: 72,999,974	Q489L	probably damaging	Het
Vmn2r69	T	C	7: 85,406,900	T677A	probably damaging	Het
Wdr35	T	C	12: 8,986,104	F292L	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
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
R4393: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

Posted On

2013-11-07