Mutagenetix > Incidental Mutation

Incidental Mutation 'R9796:Gm3696'

734959

Institutional Source

Beutler Lab

Gene Symbol

Gm3696

Ensembl Gene

ENSMUSG00000092167

Gene Name

predicted gene 3696

Synonyms

Gm5794

MMRRC Submission

Accession Numbers

Essential gene?

Not available question?

Stock #

R9796 (G1)

Quality Score

144.008

Status

Not validated

Chromosome

Chromosomal Location

15369152-15386565 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18435140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 48 (N48S)

Ref Sequence

ENSEMBL: ENSMUSP00000132868 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167923] [ENSMUST00000179898]

AlphaFold

K7N751

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167923
AA Change: N48S

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132868
Gene: ENSMUSG00000092167
AA Change: N48S

Domain	Start	End	E-Value	Type
Pfam:Takusan	48	128	1.3e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179898
AA Change: N48S

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000137098
Gene: ENSMUSG00000092167
AA Change: N48S

Domain	Start	End	E-Value	Type
Pfam:Takusan	46	129	1e-31	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	C	T	10: 29,101,349 (GRCm39)	T574I	possibly damaging	Het
Aadac	T	G	3: 59,945,882 (GRCm39)	V184G	probably damaging	Het
Adam6b	G	A	12: 113,454,272 (GRCm39)	C363Y	probably damaging	Het
Adamts8	T	A	9: 30,862,569 (GRCm39)	I258N	probably damaging	Het
Adarb2	C	T	13: 8,619,852 (GRCm39)	L113F	probably damaging	Het
Aff4	A	G	11: 53,302,824 (GRCm39)	N1099S	probably damaging	Het
Alg10b	G	T	15: 90,108,728 (GRCm39)	A30S	possibly damaging	Het
Als2	T	A	1: 59,209,601 (GRCm39)	E1460D	probably benign	Het
Ascc3	C	T	10: 50,608,801 (GRCm39)	R1515*	probably null	Het
Asxl2	C	T	12: 3,546,508 (GRCm39)	P431S	probably benign	Het
AU018091	A	T	7: 3,213,785 (GRCm39)	V153D	probably damaging	Het
Cd177	A	G	7: 24,459,169 (GRCm39)	V80A	probably benign	Het
Cdc16	G	T	8: 13,807,693 (GRCm39)		probably benign	Het
Cdk14	A	G	5: 5,316,012 (GRCm39)	S4P	probably benign	Het
Ctu2	A	T	8: 123,202,989 (GRCm39)	Y8F	probably benign	Het
Dnhd1	T	C	7: 105,342,537 (GRCm39)	F1294L	probably damaging	Het
Epha7	A	G	4: 28,817,457 (GRCm39)	D37G	probably damaging	Het
Fan1	T	A	7: 64,022,278 (GRCm39)	N325I	probably benign	Het
Fbn1	T	A	2: 125,158,941 (GRCm39)	M2275L	probably benign	Het
Fbxo38	T	C	18: 62,674,055 (GRCm39)	K9E	possibly damaging	Het
Greb1l	A	G	18: 10,538,233 (GRCm39)	E1082G	possibly damaging	Het
Gtdc1	A	T	2: 44,715,386 (GRCm39)	N52K	probably benign	Het
Hrh2	C	T	13: 54,375,241 (GRCm39)	T359I	probably benign	Het
Ifi44l	A	G	3: 151,468,419 (GRCm39)	V37A		Het
Igfn1	C	A	1: 135,897,611 (GRCm39)	W985L	probably benign	Het
Il22b	A	G	10: 118,130,081 (GRCm39)	S108P	probably benign	Het
Il23a	G	C	10: 128,132,829 (GRCm39)	R143G	probably benign	Het
Kcnv1	T	C	15: 44,977,987 (GRCm39)	D17G	unknown	Het
Klk1	T	C	7: 43,877,965 (GRCm39)	W74R	possibly damaging	Het
Lmntd2	A	T	7: 140,793,597 (GRCm39)	N96K	possibly damaging	Het
Lrch4	A	G	5: 137,635,269 (GRCm39)	H253R	probably damaging	Het
Lrrc8d	A	T	5: 105,959,917 (GRCm39)	D109V	probably benign	Het
Magi3	T	C	3: 103,928,291 (GRCm39)	T1004A	probably benign	Het
Mapk10	A	G	5: 103,135,101 (GRCm39)	V287A	possibly damaging	Het
Mtss2	G	A	8: 111,456,753 (GRCm39)		probably null	Het
Mybpc1	T	C	10: 88,406,497 (GRCm39)	I116V	possibly damaging	Het
Mylk4	T	A	13: 32,900,643 (GRCm39)	M296L	probably damaging	Het
Nav3	A	G	10: 109,527,969 (GRCm39)	F2238S	probably damaging	Het
Or11g26	G	T	14: 50,753,229 (GRCm39)	L189F	probably damaging	Het
Pax6	T	C	2: 105,522,541 (GRCm39)	F243L	probably damaging	Het
Pcdhb22	G	A	18: 37,652,404 (GRCm39)	E34K	possibly damaging	Het
Pdzrn4	T	A	15: 92,578,353 (GRCm39)	F359I	possibly damaging	Het
Prkn	A	T	17: 11,456,554 (GRCm39)	D126V	possibly damaging	Het
Rnf168	C	T	16: 32,117,872 (GRCm39)	R478C	probably damaging	Het
Sh3gl2	G	A	4: 85,295,765 (GRCm39)	V156I	possibly damaging	Het
Taf2	A	T	15: 54,910,832 (GRCm39)	M614K	probably damaging	Het
Tbc1d31	G	A	15: 57,833,179 (GRCm39)	V973M	probably damaging	Het
Tmem131l	T	G	3: 83,829,402 (GRCm39)	K1085T	probably damaging	Het
Tpst1	A	G	5: 130,163,300 (GRCm39)	T366A	probably benign	Het
Unc50	A	G	1: 37,471,679 (GRCm39)	T110A	probably benign	Het
Vmn2r60	A	G	7: 41,785,172 (GRCm39)	H128R	probably benign	Het
Vps13a	A	T	19: 16,631,828 (GRCm39)	N2602K	probably benign	Het
Vps13d	A	G	4: 144,854,505 (GRCm39)		probably null	Het
Vps50	A	G	6: 3,562,300 (GRCm39)	E465G	probably damaging	Het

Other mutations in Gm3696

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Gm3696	APN	14	18,435,903 (GRCm39)	missense	probably benign	0.24
IGL01568:Gm3696	APN	14	18,435,020 (GRCm39)	missense	probably benign	0.32
IGL01882:Gm3696	APN	14	18,433,062 (GRCm39)	missense	probably benign
IGL01903:Gm3696	APN	14	18,434,983 (GRCm39)	splice site	probably benign
R7286:Gm3696	UTSW	14	18,435,009 (GRCm39)	missense	probably damaging	1.00
R7806:Gm3696	UTSW	14	18,433,095 (GRCm39)	missense	probably benign	0.02
R7806:Gm3696	UTSW	14	18,433,094 (GRCm39)	missense	probably benign	0.16
R8080:Gm3696	UTSW	14	18,435,071 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TACAGTCAAGAGGGTACTGGGC -3'
(R):5'- CAGGGAGTGTGGCATATGTC -3'

Sequencing Primer
(F):5'- AGGGTACTGGGCATAATTCCTACC -3'
(R):5'- AGTGTGGCATATGTCTGACAATG -3'

Posted On

2022-11-14