Mutagenetix > Incidental Mutation

Incidental Mutation 'R4246:Jpt1'

320433

Institutional Source

Beutler Lab

Gene Symbol

Jpt1

Ensembl Gene

ENSMUSG00000020737

Gene Name

Jupiter microtubule associated homolog 1

Synonyms

Hn1

MMRRC Submission

041062-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4246 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115388179-115405213 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

T to C at 115405119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021083]

AlphaFold

P97825

Predicted Effect

probably benign
Transcript: ENSMUST00000021083

SMART Domains

Protein: ENSMUSP00000021083
Gene: ENSMUSG00000020737

Domain	Start	End	E-Value	Type
low complexity region	63	73	N/A	INTRINSIC
low complexity region	123	145	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139980

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142238

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145104

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155399

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,606,013 (GRCm39)	N36S	possibly damaging	Het
Ak1	A	G	2: 32,523,384 (GRCm39)	T151A	possibly damaging	Het
Asxl3	A	G	18: 22,658,557 (GRCm39)	D2189G	probably damaging	Het
Ccdc91	C	T	6: 147,493,646 (GRCm39)	A346V	unknown	Het
Dnah6	C	T	6: 73,106,431 (GRCm39)	E1769K	probably benign	Het
Dock6	A	T	9: 21,750,786 (GRCm39)		probably null	Het
Fhod3	A	G	18: 25,123,123 (GRCm39)	K271R	probably null	Het
Glyatl3	T	A	17: 41,220,989 (GRCm39)	D126V	probably benign	Het
Gnal	C	G	18: 67,221,654 (GRCm39)	P19R	unknown	Het
Igkv8-21	T	A	6: 70,292,436 (GRCm39)	M1L	possibly damaging	Het
Itih4	C	A	14: 30,613,359 (GRCm39)	H261N	probably damaging	Het
Kif14	G	T	1: 136,401,126 (GRCm39)	M492I	possibly damaging	Het
Klhl32	A	C	4: 24,800,822 (GRCm39)	S3A	possibly damaging	Het
Kmt2d	C	T	15: 98,737,970 (GRCm39)		probably benign	Het
Lamtor5	T	C	3: 107,186,354 (GRCm39)	V41A	probably benign	Het
Lmtk3	G	A	7: 45,443,486 (GRCm39)	C723Y	possibly damaging	Het
Lrfn1	G	T	7: 28,159,367 (GRCm39)	V429L	probably benign	Het
Mapkbp1	T	A	2: 119,843,508 (GRCm39)	I252N	probably damaging	Het
Nelfa	A	G	5: 34,056,373 (GRCm39)	F464S	probably damaging	Het
Nipbl	G	A	15: 8,361,916 (GRCm39)	L1454F	probably damaging	Het
Nr4a3	C	T	4: 48,083,125 (GRCm39)	P553S	possibly damaging	Het
Nrg3	G	A	14: 39,194,198 (GRCm39)	T187I	possibly damaging	Het
Or5m5	T	A	2: 85,814,624 (GRCm39)	C147S	possibly damaging	Het
Or8g36	A	G	9: 39,422,899 (GRCm39)	V39A	probably benign	Het
Pcdha8	A	G	18: 37,125,950 (GRCm39)	E144G	probably damaging	Het
Pik3cb	T	C	9: 98,983,229 (GRCm39)		probably null	Het
Pira1	C	T	7: 3,740,348 (GRCm39)	G291E	probably damaging	Het
Pkd1l1	C	T	11: 8,815,543 (GRCm39)	R1456K	possibly damaging	Het
Ppp1r3a	T	A	6: 14,719,780 (GRCm39)	E378V	probably damaging	Het
Psd2	T	C	18: 36,139,172 (GRCm39)	L540P	probably damaging	Het
Rnf14	T	A	18: 38,434,701 (GRCm39)		probably null	Het
Satl1	A	G	X: 111,316,033 (GRCm39)	S141P	probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Sh3d19	G	A	3: 86,033,995 (GRCm39)	V783I	probably benign	Het
Snca	T	C	6: 60,710,149 (GRCm39)	E110G	possibly damaging	Het
Sumf1	A	C	6: 108,131,974 (GRCm39)	V156G	probably damaging	Het
Trhr	A	T	15: 44,096,856 (GRCm39)		probably null	Het
Tsen2	A	G	6: 115,524,785 (GRCm39)		probably benign	Het
Tuft1	C	A	3: 94,522,108 (GRCm39)	M319I	probably benign	Het
Vill	C	A	9: 118,889,461 (GRCm39)	N132K	probably damaging	Het
Wars2	T	A	3: 99,123,904 (GRCm39)	V255E	probably damaging	Het
Zcchc14	CTGATGGTGGTGGTGATGGTGGTGG	CTGATGGTGGTGG	8: 122,331,031 (GRCm39)		probably benign	Het

Other mutations in Jpt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4777:Jpt1	UTSW	11	115,391,497 (GRCm39)	missense	probably benign
R7418:Jpt1	UTSW	11	115,389,095 (GRCm39)	missense	probably damaging	0.96
R7483:Jpt1	UTSW	11	115,393,950 (GRCm39)	missense	probably damaging	1.00
R7586:Jpt1	UTSW	11	115,389,021 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCGTTACCGGGGAGAAATG -3'
(R):5'- CGCCGATCTATGATTAGCACTG -3'

Sequencing Primer
(F):5'- ACAAGCCGAGGCAGTCCTG -3'
(R):5'- GCACTGTAGCTAACCAATAGAAATG -3'

Posted On

2015-06-12