Mutagenetix > Incidental Mutation

Incidental Mutation 'R1580:Trabd2b'

171340

Institutional Source

Beutler Lab

Gene Symbol

Trabd2b

Ensembl Gene

ENSMUSG00000070867

Gene Name

TraB domain containing 2B

Synonyms

Gm12824, Hkat

MMRRC Submission

039617-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R1580 (G1)

Quality Score

202

Status

Validated

Chromosome

Chromosomal Location

114263921-114472295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114437531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 236 (V236A)

Ref Sequence

ENSEMBL: ENSMUSP00000092494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094894]

AlphaFold

B1ATG9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094894
AA Change: V236A

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092494
Gene: ENSMUSG00000070867
AA Change: V236A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:TraB	41	350	6.2e-67	PFAM
low complexity region	359	402	N/A	INTRINSIC
low complexity region	404	419	N/A	INTRINSIC
low complexity region	450	469	N/A	INTRINSIC

Meta Mutation Damage Score

0.0688

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.4%
20x: 89.8%

Validation Efficiency

96% (43/45)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,305,124 (GRCm39)	V2044I	possibly damaging	Het
Adgrv1	A	G	13: 81,614,279 (GRCm39)		probably null	Het
Arhgef38	T	C	3: 132,839,465 (GRCm39)	Q526R	probably benign	Het
Atp2c2	A	G	8: 120,479,726 (GRCm39)	N752D	probably benign	Het
Atp6v0a1	T	C	11: 100,920,030 (GRCm39)	I221T	probably damaging	Het
Atp8b5	T	C	4: 43,355,673 (GRCm39)	V551A	possibly damaging	Het
B3galnt1	A	G	3: 69,483,040 (GRCm39)	S74P	possibly damaging	Het
Bcl2l13	A	G	6: 120,842,675 (GRCm39)	I123V	probably benign	Het
Brms1l	A	T	12: 55,915,007 (GRCm39)	K305N	probably damaging	Het
Ccdc82	C	T	9: 13,252,385 (GRCm39)	R226C	probably damaging	Het
Chst9	T	G	18: 15,586,122 (GRCm39)	K147T	probably benign	Het
Clec16a	A	G	16: 10,413,762 (GRCm39)	R390G	probably damaging	Het
Clec5a	G	T	6: 40,562,153 (GRCm39)	H4N	probably benign	Het
Csmd1	T	A	8: 15,975,299 (GRCm39)	Q2970L	probably damaging	Het
Cyp2a4	T	C	7: 26,007,076 (GRCm39)	I61T	possibly damaging	Het
Cyp3a16	T	A	5: 145,378,884 (GRCm39)	K379I	possibly damaging	Het
Cyp3a16	T	C	5: 145,378,885 (GRCm39)	K379E	probably damaging	Het
Dok2	A	G	14: 71,014,397 (GRCm39)	D195G	probably benign	Het
Emilin1	A	G	5: 31,074,764 (GRCm39)	E335G	probably damaging	Het
Gm7361	G	T	5: 26,462,768 (GRCm39)	L3F	probably damaging	Het
Haus1	T	C	18: 77,854,620 (GRCm39)	D50G	probably damaging	Het
Igf1r	T	C	7: 67,857,617 (GRCm39)	V1099A	probably benign	Het
Kif15	T	C	9: 122,789,021 (GRCm39)	V71A	probably benign	Het
Klk10	C	T	7: 43,432,286 (GRCm39)	A73V	probably damaging	Het
Lins1	C	A	7: 66,364,239 (GRCm39)	D711E	probably benign	Het
Mbtps1	C	T	8: 120,265,639 (GRCm39)	V303I	possibly damaging	Het
Mest	G	A	6: 30,745,822 (GRCm39)		probably benign	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Or14c43	A	G	7: 86,114,658 (GRCm39)	E13G	probably benign	Het
Or6c210	G	T	10: 129,496,184 (GRCm39)	V170F	probably benign	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rtf2	A	G	2: 172,287,285 (GRCm39)	D68G	probably damaging	Het
Sbspon	C	A	1: 15,962,692 (GRCm39)	C62F	probably damaging	Het
Spata31f3	T	C	4: 42,874,020 (GRCm39)		probably null	Het
Spg7	T	A	8: 123,816,977 (GRCm39)		probably benign	Het
Vmn2r10	A	T	5: 109,154,117 (GRCm39)	N62K	possibly damaging	Het
Vmn2r45	T	G	7: 8,474,746 (GRCm39)	S761R	possibly damaging	Het
Zfp580	C	T	7: 5,056,284 (GRCm39)	R215C	probably damaging	Het
Zfpm2	A	G	15: 40,966,605 (GRCm39)	D898G	possibly damaging	Het

Other mutations in Trabd2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Trabd2b	APN	4	114,266,322 (GRCm39)	missense	probably damaging	0.99
IGL01404:Trabd2b	APN	4	114,457,153 (GRCm39)	missense	probably benign	0.01
IGL01866:Trabd2b	APN	4	114,266,117 (GRCm39)	missense	probably damaging	0.96
IGL03056:Trabd2b	APN	4	114,266,535 (GRCm39)	missense	probably damaging	0.96
IGL03167:Trabd2b	APN	4	114,467,195 (GRCm39)	missense	probably benign
E0374:Trabd2b	UTSW	4	114,457,094 (GRCm39)	missense	probably damaging	0.99
R0645:Trabd2b	UTSW	4	114,443,767 (GRCm39)	missense	probably damaging	1.00
R0744:Trabd2b	UTSW	4	114,437,519 (GRCm39)	missense	probably benign	0.00
R0833:Trabd2b	UTSW	4	114,437,519 (GRCm39)	missense	probably benign	0.00
R1599:Trabd2b	UTSW	4	114,266,178 (GRCm39)	missense	probably damaging	0.99
R2132:Trabd2b	UTSW	4	114,467,205 (GRCm39)	missense	probably benign
R2133:Trabd2b	UTSW	4	114,467,205 (GRCm39)	missense	probably benign
R2204:Trabd2b	UTSW	4	114,460,191 (GRCm39)	missense	probably damaging	1.00
R2518:Trabd2b	UTSW	4	114,457,100 (GRCm39)	missense	probably damaging	1.00
R4940:Trabd2b	UTSW	4	114,266,141 (GRCm39)	missense	probably damaging	1.00
R4994:Trabd2b	UTSW	4	114,264,052 (GRCm39)	missense	probably benign	0.05
R5104:Trabd2b	UTSW	4	114,264,114 (GRCm39)	missense	probably benign	0.21
R5219:Trabd2b	UTSW	4	114,460,007 (GRCm39)	missense	probably damaging	0.97
R6456:Trabd2b	UTSW	4	114,443,757 (GRCm39)	missense	probably damaging	1.00
R7148:Trabd2b	UTSW	4	114,266,547 (GRCm39)	missense	probably damaging	1.00
R7192:Trabd2b	UTSW	4	114,467,217 (GRCm39)	missense	possibly damaging	0.88
R7195:Trabd2b	UTSW	4	114,266,637 (GRCm39)	missense	probably damaging	1.00
R7375:Trabd2b	UTSW	4	114,467,194 (GRCm39)	missense	probably benign	0.00
R8490:Trabd2b	UTSW	4	114,460,113 (GRCm39)	missense	probably damaging	0.99
R8717:Trabd2b	UTSW	4	114,460,186 (GRCm39)	missense	probably damaging	0.99
R9203:Trabd2b	UTSW	4	114,460,122 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCAAGAGGGAGACTCACTCCGAAC -3'
(R):5'- AAATTCCAGGTGGGATCATGTGGGC -3'

Sequencing Primer
(F):5'- GAACTCCAAACTCAGATGGTTTGC -3'
(R):5'- GCCTATCTCTAGGTCTTTGCAGC -3'

Posted On

2014-04-13