Mutagenetix > Incidental Mutation

Incidental Mutation 'R5653:Gm37240'

442088

Institutional Source

Beutler Lab

Gene Symbol

Gm37240

Ensembl Gene

ENSMUSG00000102805

Gene Name

predicted gene, 37240

Synonyms

MMRRC Submission

043299-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R5653 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84403733-85794825 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84405102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 234 (F234L)

Ref Sequence

ENSEMBL: ENSMUSP00000116393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098990] [ENSMUST00000107687] [ENSMUST00000143514] [ENSMUST00000154148]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098990
AA Change: F323L

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096588
Gene: ENSMUSG00000074513
AA Change: F323L

Domain	Start	End	E-Value	Type
Blast:Arfaptin	1	32	9e-10	BLAST
Arfaptin	89	316	2.08e-122	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107687
AA Change: F348L

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103315
Gene: ENSMUSG00000074513
AA Change: F348L

Domain	Start	End	E-Value	Type
Blast:Arfaptin	1	32	1e-9	BLAST
Arfaptin	114	341	2.08e-122	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143514
AA Change: F355L

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122964
Gene: ENSMUSG00000074513
AA Change: F355L

Domain	Start	End	E-Value	Type
Blast:Arfaptin	1	32	1e-9	BLAST
Arfaptin	121	348	2.08e-122	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000154148
AA Change: F234L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116393
Gene: ENSMUSG00000102805
AA Change: F234L

Domain	Start	End	E-Value	Type
Arfaptin	1	227	7.15e-121	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	T	C	5: 36,040,756 (GRCm39)	L663P	probably damaging	Het
Atp10d	A	T	5: 72,421,410 (GRCm39)	Q682L	probably benign	Het
Atp8b1	A	G	18: 64,678,268 (GRCm39)	V876A	probably damaging	Het
Bard1	A	T	1: 71,070,588 (GRCm39)	V632E	probably benign	Het
Baz1b	A	T	5: 135,237,951 (GRCm39)	E209V	probably benign	Het
Bmp1	T	A	14: 70,727,534 (GRCm39)	Y683F	probably benign	Het
Cacnb1	A	T	11: 97,900,105 (GRCm39)		probably null	Het
Capza2	G	A	6: 17,654,112 (GRCm39)	A55T	probably damaging	Het
Cc2d2a	A	G	5: 43,879,804 (GRCm39)	N1127S	possibly damaging	Het
Ccdc13	A	G	9: 121,627,853 (GRCm39)	*255R	probably null	Het
Ddias	G	T	7: 92,507,937 (GRCm39)	N659K	probably damaging	Het
Ddr1	C	T	17: 35,997,400 (GRCm39)	A531T	probably benign	Het
Dnah9	T	C	11: 65,740,806 (GRCm39)	T4127A	probably damaging	Het
Dnajc10	T	A	2: 80,179,712 (GRCm39)	Y749N	probably damaging	Het
Dnm1l	A	G	16: 16,137,353 (GRCm39)	L422P	probably damaging	Het
Edil3	A	T	13: 89,279,931 (GRCm39)	N203I	probably damaging	Het
Egfr	C	T	11: 16,861,617 (GRCm39)	A1132V	probably benign	Het
Entpd7	C	T	19: 43,679,596 (GRCm39)	R50*	probably null	Het
Fat2	T	C	11: 55,201,142 (GRCm39)	D644G	probably damaging	Het
Fhip1a	A	T	3: 85,629,808 (GRCm39)	L40Q	probably damaging	Het
Galnt11	T	A	5: 25,453,856 (GRCm39)	D27E	probably damaging	Het
Gm10801	T	A	2: 98,494,396 (GRCm39)	F158I	probably damaging	Het
Gtf2ird1	A	T	5: 134,439,821 (GRCm39)	F136L	probably damaging	Het
Hspa1l	T	C	17: 35,196,396 (GRCm39)	V145A	probably damaging	Het
Ice2	A	G	9: 69,335,662 (GRCm39)	T882A	probably benign	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kat6b	A	G	14: 21,719,440 (GRCm39)	N1264S	probably benign	Het
Kcnq4	C	A	4: 120,559,608 (GRCm39)	V531L	probably benign	Het
Kif9	A	T	9: 110,353,999 (GRCm39)	K790N	probably damaging	Het
Lipe	T	A	7: 25,097,833 (GRCm39)	I37L	probably benign	Het
Lrrc43	A	G	5: 123,637,643 (GRCm39)	D270G	probably damaging	Het
Mon2	A	G	10: 122,861,999 (GRCm39)	Y782H	probably damaging	Het
Mrpl52	T	C	14: 54,664,686 (GRCm39)	S49P	probably damaging	Het
Or2ak5	G	A	11: 58,611,077 (GRCm39)	H266Y	probably damaging	Het
Or2h15	T	A	17: 38,442,075 (GRCm39)	T3S	possibly damaging	Het
Or5k14	A	G	16: 58,692,847 (GRCm39)	L222P	probably damaging	Het
Or5p56	A	T	7: 107,589,592 (GRCm39)	T7S	probably benign	Het
Pcbp2	C	T	15: 102,395,524 (GRCm39)	A141V	probably damaging	Het
Pcsk9	T	A	4: 106,316,113 (GRCm39)	Y110F	probably damaging	Het
Plxna4	A	G	6: 32,494,551 (GRCm39)	S22P	possibly damaging	Het
Polq	T	A	16: 36,860,896 (GRCm39)	L506Q	probably damaging	Het
Prkn	C	T	17: 11,456,536 (GRCm39)	A119V	probably damaging	Het
Prx	C	T	7: 27,217,029 (GRCm39)	P510L	probably damaging	Het
Ptpre	T	C	7: 135,255,672 (GRCm39)	F54L	probably damaging	Het
Rspry1	T	G	8: 95,363,239 (GRCm39)		probably null	Het
Tnfrsf11b	A	T	15: 54,123,262 (GRCm39)	L113Q	probably damaging	Het
Tnk1	C	T	11: 69,744,411 (GRCm39)	G411S	probably damaging	Het
Tor3a	A	G	1: 156,484,080 (GRCm39)	L290S	probably damaging	Het
Tril	T	C	6: 53,794,970 (GRCm39)	T751A	probably benign	Het
Tubgcp6	C	T	15: 88,992,815 (GRCm39)	V547I	possibly damaging	Het
Txnrd3	T	C	6: 89,631,067 (GRCm39)	L121P	probably benign	Het
Vmn1r210	T	A	13: 23,011,378 (GRCm39)	R303*	probably null	Het
Vmn2r38	T	C	7: 9,100,764 (GRCm39)	M1V	probably null	Het

Other mutations in Gm37240

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1236:Gm37240	UTSW	3	84,435,003 (GRCm39)	missense	probably benign	0.04
R1494:Gm37240	UTSW	3	84,434,998 (GRCm39)	missense	probably damaging	0.99
R3746:Gm37240	UTSW	3	84,426,919 (GRCm39)	missense	probably benign	0.26
R5362:Gm37240	UTSW	3	84,423,000 (GRCm39)	missense	probably damaging	1.00
R5870:Gm37240	UTSW	3	84,597,828 (GRCm39)	intron	probably benign
R5913:Gm37240	UTSW	3	84,874,905 (GRCm39)	intron	probably benign
R6163:Gm37240	UTSW	3	84,423,092 (GRCm39)	missense	probably damaging	1.00
R7210:Gm37240	UTSW	3	84,405,114 (GRCm39)	missense	probably benign	0.02
R7378:Gm37240	UTSW	3	84,879,944 (GRCm39)	splice site	probably null
R7769:Gm37240	UTSW	3	84,417,232 (GRCm39)	missense	possibly damaging	0.81
R8748:Gm37240	UTSW	3	84,405,045 (GRCm39)	makesense	probably null
R9019:Gm37240	UTSW	3	84,426,946 (GRCm39)	missense	probably damaging	1.00
R9164:Gm37240	UTSW	3	84,417,248 (GRCm39)	missense	possibly damaging	0.95
R9542:Gm37240	UTSW	3	84,417,196 (GRCm39)	missense	probably benign
R9666:Gm37240	UTSW	3	84,422,952 (GRCm39)	missense	probably damaging	1.00
R9739:Gm37240	UTSW	3	84,417,113 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGTGCAAGAGCCACTACAATG -3'
(R):5'- CTTGGTGTCTGTGAACACTGTC -3'

Sequencing Primer
(F):5'- CACTACAATGGTGGTCACTCC -3'
(R):5'- GTGAACACTGTCACTCTATTAGCG -3'

Posted On

2016-11-09