Mutagenetix > Incidental Mutation

Incidental Mutation 'R6496:Jtb'

523003

Institutional Source

Beutler Lab

Gene Symbol

Jtb

Ensembl Gene

ENSMUSG00000027937

Gene Name

jumping translocation breakpoint

Synonyms

MMRRC Submission

044628-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6496 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90138904-90143145 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90141264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 80 (V80A)

Ref Sequence

ENSEMBL: ENSMUSP00000029546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029546] [ENSMUST00000029547] [ENSMUST00000107369] [ENSMUST00000119304]

AlphaFold

O88824

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029546
AA Change: V80A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000029546
Gene: ENSMUSG00000027937
AA Change: V80A

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:JTB	37	143	5.6e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000029547

SMART Domains

Protein: ENSMUSP00000029547
Gene: ENSMUSG00000027938

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	76	86	N/A	INTRINSIC
BRLZ	191	255	1.49e-13	SMART
low complexity region	275	291	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107369

SMART Domains

Protein: ENSMUSP00000102992
Gene: ENSMUSG00000027938

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	76	86	N/A	INTRINSIC
BRLZ	191	255	1.49e-13	SMART
low complexity region	275	291	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119304
AA Change: V80A

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113763
Gene: ENSMUSG00000027937
AA Change: V80A

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:JTB	30	95	1.2e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123839

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157045

Meta Mutation Damage Score

0.0901

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.7%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	A	2: 19,545,217 (GRCm39)	T79S	probably benign	Het
Atp2b1	T	A	10: 98,839,199 (GRCm39)	C676S	probably damaging	Het
Atp8b5	T	C	4: 43,371,003 (GRCm39)	F1047L	probably benign	Het
B3gnt4	G	A	5: 123,649,654 (GRCm39)	E340K	probably benign	Het
Casp8ap2	A	C	4: 32,641,553 (GRCm39)	H869P	probably benign	Het
Cdh26	G	A	2: 178,091,654 (GRCm39)	G71D	probably damaging	Het
Col4a2	G	T	8: 11,452,993 (GRCm39)	G187*	probably null	Het
Col4a2	G	T	8: 11,452,994 (GRCm39)	G187V	probably damaging	Het
Dsn1	A	G	2: 156,847,187 (GRCm39)	S84P	probably damaging	Het
Edaradd	T	A	13: 12,493,323 (GRCm39)	D123V	probably damaging	Het
Epb41l1	T	C	2: 156,375,716 (GRCm39)	S611P	possibly damaging	Het
Fam217a	G	A	13: 35,094,785 (GRCm39)	R234*	probably null	Het
Gm17175	A	G	14: 51,810,534 (GRCm39)	I31T	probably benign	Het
Kera	T	A	10: 97,448,672 (GRCm39)	N297K	probably benign	Het
Klhl1	T	C	14: 96,477,652 (GRCm39)	N472S	probably benign	Het
Lgmn	T	C	12: 102,364,498 (GRCm39)	T324A	probably benign	Het
Ndst3	A	G	3: 123,346,201 (GRCm39)	I276T	probably damaging	Het
Nsd2	A	G	5: 34,000,857 (GRCm39)	K125E	probably damaging	Het
Or10ag59	A	C	2: 87,405,460 (GRCm39)	N11H	probably damaging	Het
Or6c33	T	A	10: 129,853,448 (GRCm39)	S73T	probably benign	Het
Patj	C	A	4: 98,304,989 (GRCm39)	A281E	probably damaging	Het
Pcdha7	A	G	18: 37,107,638 (GRCm39)	E221G	possibly damaging	Het
Plcd1	A	G	9: 118,901,709 (GRCm39)	F605S	possibly damaging	Het
Pls1	A	G	9: 95,636,798 (GRCm39)	I558T	probably damaging	Het
Pmfbp1	A	G	8: 110,258,789 (GRCm39)	K698R	probably null	Het
Potefam1	T	A	2: 110,994,817 (GRCm39)	H232L	unknown	Het
Psd	G	A	19: 46,308,753 (GRCm39)	R628C	probably damaging	Het
Sipa1l2	T	C	8: 126,176,633 (GRCm39)	N1211S	probably benign	Het
Slc1a3	T	A	15: 8,679,065 (GRCm39)	M177L	probably benign	Het
Slc34a1	T	C	13: 55,550,495 (GRCm39)	S183P	probably benign	Het
Spata22	G	A	11: 73,231,189 (GRCm39)	G148R	probably damaging	Het
Spata31f1a	G	T	4: 42,848,424 (GRCm39)	T1244K	probably damaging	Het
Tfap2a	T	C	13: 40,882,251 (GRCm39)	D18G	probably damaging	Het
Thoc7	T	C	14: 13,954,593 (GRCm38)	N28S	possibly damaging	Het
Usp42	T	C	5: 143,700,858 (GRCm39)	Y1055C	probably damaging	Het
Zfp874a	A	G	13: 67,590,694 (GRCm39)	V330A	possibly damaging	Het

Other mutations in Jtb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2905:Jtb	UTSW	3	90,139,799 (GRCm39)	missense	probably damaging	1.00
R5103:Jtb	UTSW	3	90,139,394 (GRCm39)	intron	probably benign
R5812:Jtb	UTSW	3	90,141,284 (GRCm39)	missense	probably benign	0.01
R5907:Jtb	UTSW	3	90,142,884 (GRCm39)	splice site	probably null
R8002:Jtb	UTSW	3	90,141,251 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTAATTGTTCCTCCTTCCACCAA -3'
(R):5'- TCCCCATGTCCTGACCAAA -3'

Sequencing Primer
(F):5'- ACCACCTCCACCATCTATTAGCTC -3'
(R):5'- CCAATAACATAGTGCTGAAGACCGG -3'

Posted On

2018-06-06