Mutagenetix > Incidental Mutation

Incidental Mutation 'R1231:Gm21738'

152300

Institutional Source

Beutler Lab

Gene Symbol

Gm21738

Ensembl Gene

ENSMUSG00000095280

Gene Name

predicted gene, 21738

Synonyms

MMRRC Submission

039300-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.883) question?

Stock #

R1231 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

(GRCm39)

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: 99.2%
3x: 98.3%
10x: 96.0%
20x: 91.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc3	C	T	10: 50,699,756 (GRCm39)	P1860S	probably damaging	Het
Cabp5	T	C	7: 13,139,350 (GRCm39)	I125T	probably damaging	Het
Ccnd2	A	T	6: 127,107,363 (GRCm39)	S269T	probably benign	Het
Cmss1	C	T	16: 57,136,560 (GRCm39)	R104H	probably benign	Het
Dock9	A	T	14: 121,813,362 (GRCm39)	M1522K	possibly damaging	Het
Fcrl5	A	G	3: 87,349,486 (GRCm39)	H87R	probably benign	Het
Gabrr3	G	A	16: 59,281,763 (GRCm39)	D373N	probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Itgae	C	T	11: 73,010,205 (GRCm39)	T565I	probably benign	Het
Mocos	G	T	18: 24,812,758 (GRCm39)	A551S	probably benign	Het
Mtmr9	A	T	14: 63,765,640 (GRCm39)	N418K	possibly damaging	Het
Mtus2	T	A	5: 148,014,198 (GRCm39)	S330R	probably benign	Het
Or2t1	A	T	14: 14,328,515 (GRCm38)	M135L	probably benign	Het
Psg16	T	A	7: 16,829,230 (GRCm39)	Y271*	probably null	Het
Psmd2	T	A	16: 20,474,335 (GRCm39)	M297K	possibly damaging	Het
Rnf220	A	T	4: 117,347,081 (GRCm39)	S110R	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
St8sia5	T	C	18: 77,320,502 (GRCm39)	Y49H	probably damaging	Het
Umodl1	A	G	17: 31,178,252 (GRCm39)	Y76C	probably damaging	Het
Urm1	G	T	2: 29,722,711 (GRCm39)	A15S	probably damaging	Het

Other mutations in Gm21738

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Gm21738	APN	14	19,418,885 (GRCm38)	missense	probably benign
IGL01010:Gm21738	APN	14	19,417,361 (GRCm38)	missense	probably benign	0.03
IGL01018:Gm21738	APN	14	19,418,856 (GRCm38)	missense	probably benign	0.39
IGL01865:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01869:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01873:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01877:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01878:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01879:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01880:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01882:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01883:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01884:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01885:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01886:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01888:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01891:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01892:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01893:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01894:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01895:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01896:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01898:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01899:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01900:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01901:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01902:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01903:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01904:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01905:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01906:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01908:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01909:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01910:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01911:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01912:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01913:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01914:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01915:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01916:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01917:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01918:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01919:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01922:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01923:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01924:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01925:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01926:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01932:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01940:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01949:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
PIT4131001:Gm21738	UTSW	14	19,417,330 (GRCm38)	missense	probably benign	0.00
PIT4142001:Gm21738	UTSW	14	19,417,330 (GRCm38)	missense	probably benign	0.00
R0831:Gm21738	UTSW	14	19,415,963 (GRCm38)	missense	probably benign
R0831:Gm21738	UTSW	14	19,415,957 (GRCm38)	missense	probably benign	0.01
R0976:Gm21738	UTSW	14	19,415,963 (GRCm38)	missense	probably benign
R1029:Gm21738	UTSW	14	19,415,957 (GRCm38)	missense	probably benign	0.01
R1146:Gm21738	UTSW	14	19,415,963 (GRCm38)	missense	probably benign
R1231:Gm21738	UTSW	14	19,415,957 (GRCm38)	missense	probably benign	0.01
R1402:Gm21738	UTSW	14	19,415,963 (GRCm38)	missense	probably benign
R1402:Gm21738	UTSW	14	19,415,957 (GRCm38)	missense	probably benign	0.01
R1638:Gm21738	UTSW	14	19,418,908 (GRCm38)	missense	probably benign
R1874:Gm21738	UTSW	14	19,418,824 (GRCm38)	missense	possibly damaging	0.64
R4392:Gm21738	UTSW	14	19,417,178 (GRCm38)	missense	probably benign
R4393:Gm21738	UTSW	14	19,417,178 (GRCm38)	missense	probably benign
R5049:Gm21738	UTSW	14	19,415,957 (GRCm38)	missense	probably benign	0.01
R5257:Gm21738	UTSW	14	19,415,942 (GRCm38)	missense	probably benign
R6756:Gm21738	UTSW	14	19,418,824 (GRCm38)	missense	possibly damaging	0.64
R6915:Gm21738	UTSW	14	19,415,933 (GRCm38)	missense	probably benign
V5622:Gm21738	UTSW	14	19,417,180 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-29