Mutagenetix > Incidental Mutation

Incidental Mutation 'R6756:Gm21738'

531069

Institutional Source

Beutler Lab

Gene Symbol

Gm21738

Ensembl Gene

ENSMUSG00000095280

Gene Name

predicted gene, 21738

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R6756 (G1)

Quality Score

91.0077

Status

Not validated

Chromosome

Chromosomal Location

19415857-19418930 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 19418824 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 35 (V35I)

Ref Sequence

ENSEMBL: ENSMUSP00000137127 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177817
AA Change: V35I

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000137127
Gene: ENSMUSG00000095280
AA Change: V35I

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

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,259,353		probably null	Het
Adam7	T	C	14: 68,525,279	T166A	probably benign	Het
Ahnak	G	A	19: 9,007,561	V2070M	possibly damaging	Het
Atp6v1a	T	A	16: 44,089,058	T537S	probably benign	Het
Atp8b3	C	T	10: 80,526,061	E719K	possibly damaging	Het
BC022687	T	C	12: 112,812,200	L192P	probably damaging	Het
Dpy19l1	T	C	9: 24,473,784	T250A	probably damaging	Het
Fra10ac1	A	C	19: 38,215,865	Y88D	probably damaging	Het
Gm13757	T	C	2: 88,446,734	D68G	possibly damaging	Het
H2-M9	G	T	17: 36,642,335	H27N	probably damaging	Het
Hivep2	T	C	10: 14,132,559	C1634R	probably damaging	Het
Meiob	A	T	17: 24,839,532	T470S	possibly damaging	Het
Ms4a7	T	C	19: 11,324,525	H35R	possibly damaging	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Nf1	T	A	11: 79,444,587		probably null	Het
Npc1l1	T	C	11: 6,215,153	Y1053C	probably damaging	Het
Olfr559	T	C	7: 102,724,088	N134S	probably benign	Het
Pcdh10	T	C	3: 45,380,106	V285A	possibly damaging	Het
Phldb2	A	T	16: 45,808,320	C550S	probably benign	Het
Phldb3	T	C	7: 24,627,331	Y595H	probably damaging	Het
Plekha8	C	T	6: 54,624,140	Q288*	probably null	Het
Ppp1r36	G	A	12: 76,427,922	A64T	probably benign	Het
Ptprd	T	C	4: 75,955,299	T1320A	probably damaging	Het
R3hdm1	GAA	GAAA	1: 128,162,811		probably null	Het
Recql4	T	C	15: 76,704,859	D943G	probably benign	Het
Slc24a2	A	G	4: 87,176,292	I330T	probably benign	Het
Srcin1	T	C	11: 97,535,010	D433G	probably damaging	Het
Upb1	A	G	10: 75,428,301	T194A	possibly damaging	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
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
R6915:Gm21738	UTSW	14	19415933	missense	probably benign
V5622:Gm21738	UTSW	14	19417180	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACACTGTAGGACCTGGAATATG -3'
(R):5'- CGCCAGATTCCAGGTCCTAC -3'

Sequencing Primer
(F):5'- CACTGTAGGACCTGGAATATGGAGAG -3'
(R):5'- GCCATATTCCAGGTACTACAGTGTG -3'

Posted On

2018-08-01