Mutagenetix > Incidental Mutation

Incidental Mutation 'R1236:Gm37240'

152422

Institutional Source

Beutler Lab

Gene Symbol

Gm37240

Ensembl Gene

ENSMUSG00000102805

Gene Name

predicted gene, 37240

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R1236 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84496426-85887518 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84527696 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 13 (N13I)

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

probably benign
Transcript: ENSMUST00000098990
AA Change: N102I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000096588
Gene: ENSMUSG00000074513
AA Change: N102I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107687
AA Change: N127I

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000103315
Gene: ENSMUSG00000074513
AA Change: N127I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000143514
AA Change: N134I

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000122964
Gene: ENSMUSG00000074513
AA Change: N134I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000154148
AA Change: N13I

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000116393
Gene: ENSMUSG00000102805
AA Change: N13I

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	C	2: 30,795,744	Y360C	probably damaging	Het
Afap1l2	T	A	19: 56,916,472	H566L	possibly damaging	Het
Aqr	G	T	2: 114,116,655	F1015L	probably damaging	Het
Atp5s	T	C	12: 69,741,818		probably null	Het
Cep112	T	A	11: 108,859,374	L901H	probably damaging	Het
Col26a1	A	G	5: 136,754,926	V229A	probably benign	Het
Cyp4a14	T	C	4: 115,492,170	N231S	probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,577,224		probably null	Het
Kbtbd7	G	T	14: 79,427,832	C368F	probably benign	Het
Kyat3	A	G	3: 142,738,259	D418G	probably benign	Het
Lpcat2	A	G	8: 92,886,569	M246V	probably damaging	Het
Nbas	T	A	12: 13,269,241	W31R	probably damaging	Het
Nckap1	C	T	2: 80,517,942	S889N	probably benign	Het
Npepl1	T	A	2: 174,114,480		probably null	Het
Olfr805	A	G	10: 129,722,806	V246A	probably damaging	Het
Olfr906	T	C	9: 38,488,229	S67P	probably damaging	Het
P4ha3	T	C	7: 100,293,849	L147P	probably damaging	Het
Pkp2	C	A	16: 16,225,902	H173Q	probably benign	Het
Prlr	C	A	15: 10,325,281	T180K	probably benign	Het
Psph	A	G	5: 129,771,476	M47T	probably damaging	Het
Rufy2	A	G	10: 62,994,770	N217S	probably benign	Het
Sgcg	T	C	14: 61,245,770	M61V	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Spint1	A	G	2: 119,245,573	T217A	probably benign	Het
Tert	T	C	13: 73,636,379	L648P	probably damaging	Het
Vwde	A	T	6: 13,187,153	Y778*	probably null	Het
Zeb2	T	A	2: 44,994,646	D967V	probably damaging	Het
Zfp687	T	C	3: 95,012,044	N139S	probably benign	Het
Zscan26	T	C	13: 21,445,770	M188V	probably benign	Het

Other mutations in Gm37240

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1494:Gm37240	UTSW	3	84527691	missense	probably damaging	0.99
R3746:Gm37240	UTSW	3	84519612	missense	probably benign	0.26
R5362:Gm37240	UTSW	3	84515693	missense	probably damaging	1.00
R5653:Gm37240	UTSW	3	84497795	missense	probably damaging	0.98
R5870:Gm37240	UTSW	3	84690521	intron	probably benign
R5913:Gm37240	UTSW	3	84967598	intron	probably benign
R6163:Gm37240	UTSW	3	84515785	missense	probably damaging	1.00
R7210:Gm37240	UTSW	3	84497807	missense	probably benign	0.02
R7378:Gm37240	UTSW	3	84972637	splice site	probably null
R7769:Gm37240	UTSW	3	84509925	missense	possibly damaging	0.81
R8748:Gm37240	UTSW	3	84497738	makesense	probably null
R9019:Gm37240	UTSW	3	84519639	missense	probably damaging	1.00
R9164:Gm37240	UTSW	3	84509941	missense	possibly damaging	0.95
R9542:Gm37240	UTSW	3	84509889	missense	probably benign
R9666:Gm37240	UTSW	3	84515645	missense	probably damaging	1.00
R9739:Gm37240	UTSW	3	84509806	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGAGGGAATGAGTAATGACCTTAGCAGT -3'
(R):5'- CAATCTGTCACACAGTGGGAACCTTTA -3'

Sequencing Primer
(F):5'- cacacacacatacacacacac -3'
(R):5'- CAGTTTGAATAGCATCAGGCTTCG -3'

Posted On

2014-01-29