Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01404:Trabd2b'

79743

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trabd2b

Ensembl Gene

ENSMUSG00000070867

Gene Name

TraB domain containing 2B

Synonyms

Gm12824, Hkat

Accession Numbers

Essential gene?

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

Stock #

IGL01404

Quality Score

Status

Chromosome

Chromosomal Location

114263921-114472295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114457153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 357 (I357V)

Ref Sequence

ENSEMBL: ENSMUSP00000092494 (fasta)

Gene Model

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

AlphaFold

B1ATG9

Predicted Effect

probably benign
Transcript: ENSMUST00000094894
AA Change: I357V

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

SMART Domains

Protein: ENSMUSP00000092494
Gene: ENSMUSG00000070867
AA Change: I357V

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,211,152 (GRCm39)		probably null	Het
4921524L21Rik	T	C	18: 6,638,653 (GRCm39)	S351P	possibly damaging	Het
Ablim3	A	G	18: 62,004,754 (GRCm39)	Y12H	probably damaging	Het
Adam2	C	T	14: 66,314,659 (GRCm39)		probably null	Het
Adgre4	A	T	17: 56,104,639 (GRCm39)	N235I	possibly damaging	Het
Aldh3b1	A	C	19: 3,971,205 (GRCm39)	V153G	probably benign	Het
B430306N03Rik	A	G	17: 48,628,101 (GRCm39)	Y177C	probably damaging	Het
Cast	A	T	13: 74,886,406 (GRCm39)	Y249*	probably null	Het
Cfap43	T	C	19: 47,784,105 (GRCm39)	D476G	probably benign	Het
Cpa4	T	C	6: 30,581,701 (GRCm39)	I216T	possibly damaging	Het
Cpeb3	T	C	19: 37,065,948 (GRCm39)	D407G	probably benign	Het
Ctnnal1	T	C	4: 56,829,590 (GRCm39)	D413G	probably damaging	Het
Cyb5a	A	G	18: 84,895,985 (GRCm39)	S84G	probably benign	Het
Dpy19l4	C	A	4: 11,273,006 (GRCm39)		probably null	Het
Erbin	A	T	13: 103,975,972 (GRCm39)	S641T	probably damaging	Het
Espn	T	A	4: 152,222,901 (GRCm39)	T326S	probably benign	Het
Extl1	T	C	4: 134,086,514 (GRCm39)	M514V	probably benign	Het
Fancc	G	A	13: 63,509,452 (GRCm39)	L134F	probably damaging	Het
Fis1	C	T	5: 136,994,828 (GRCm39)	A90V	probably benign	Het
Gdi2	A	G	13: 3,614,611 (GRCm39)	T319A	probably benign	Het
Gjc3	A	G	5: 137,956,120 (GRCm39)	F55S	probably damaging	Het
Gm10762	C	T	2: 128,809,005 (GRCm39)		probably benign	Het
Got1	A	G	19: 43,493,048 (GRCm39)	I291T	possibly damaging	Het
Gpr179	C	A	11: 97,229,012 (GRCm39)	G1048*	probably null	Het
Ino80	T	A	2: 119,287,199 (GRCm39)	D56V	possibly damaging	Het
Kcp	C	A	6: 29,496,638 (GRCm39)	C624F	probably damaging	Het
Kctd1	T	A	18: 15,102,610 (GRCm39)	Q857L	probably damaging	Het
Lins1	G	A	7: 66,363,676 (GRCm39)	V524I	probably damaging	Het
Lrp1	A	T	10: 127,430,901 (GRCm39)	Y383N	probably damaging	Het
Mgam	A	C	6: 40,621,879 (GRCm39)	K84Q	probably benign	Het
Mib2	T	A	4: 155,739,393 (GRCm39)	E862V	probably damaging	Het
Myh1	G	T	11: 67,112,977 (GRCm39)	R1827L	possibly damaging	Het
Myh10	T	C	11: 68,642,866 (GRCm39)		probably null	Het
Myo1e	A	G	9: 70,245,048 (GRCm39)	Y382C	probably benign	Het
Nktr	G	A	9: 121,570,218 (GRCm39)		probably null	Het
Nlrc4	A	G	17: 74,752,706 (GRCm39)	I559T	probably damaging	Het
Nod2	A	T	8: 89,390,364 (GRCm39)	M224L	probably benign	Het
Or4d5	A	G	9: 40,012,558 (GRCm39)	I76T	probably benign	Het
Or52n4	A	T	7: 104,293,687 (GRCm39)	Y295*	probably null	Het
Or5k8	G	A	16: 58,644,958 (GRCm39)	T38I	probably damaging	Het
Pex7	G	T	10: 19,770,557 (GRCm39)		probably benign	Het
Ptprb	A	T	10: 116,175,341 (GRCm39)	D1112V	probably benign	Het
Rubcn	G	A	16: 32,647,666 (GRCm39)	T636M	probably damaging	Het
Scn5a	A	C	9: 119,315,536 (GRCm39)	L1724R	probably damaging	Het
Sec14l2	T	C	11: 4,066,710 (GRCm39)	D34G	possibly damaging	Het
Serpina3k	A	G	12: 104,306,882 (GRCm39)	D38G	probably benign	Het
Sh3bgr	A	C	16: 96,007,690 (GRCm39)	K18N	probably damaging	Het
Sh3bp5l	A	T	11: 58,236,886 (GRCm39)	H281L	probably benign	Het
Slc28a2	T	G	2: 122,282,538 (GRCm39)	I287M	probably damaging	Het
Slc2a1	T	A	4: 118,989,435 (GRCm39)	M45K	possibly damaging	Het
Syt11	A	G	3: 88,669,523 (GRCm39)	I123T	probably benign	Het
Tfg	C	A	16: 56,514,856 (GRCm39)		probably benign	Het
Tmem177	T	C	1: 119,837,791 (GRCm39)	D296G	probably damaging	Het
Trp63	C	A	16: 25,639,135 (GRCm39)		probably benign	Het
Ugt1a8	T	C	1: 88,015,617 (GRCm39)	L10P	probably benign	Het
Vmn2r103	A	G	17: 20,032,696 (GRCm39)	I823M	probably damaging	Het
Vmn2r45	T	C	7: 8,484,467 (GRCm39)	N446S	probably damaging	Het
Vps13c	A	T	9: 67,820,486 (GRCm39)		probably null	Het
Vwa3b	C	T	1: 37,193,117 (GRCm39)	T11I	probably benign	Het
Vwf	A	C	6: 125,654,933 (GRCm39)	Q2543P	probably damaging	Het
Yap1	G	A	9: 7,934,742 (GRCm39)		probably benign	Het
Zfp282	A	C	6: 47,874,770 (GRCm39)	D325A	probably damaging	Het
Zfyve9	T	G	4: 108,539,348 (GRCm39)	Y975S	probably 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
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
R1580:Trabd2b	UTSW	4	114,437,531 (GRCm39)	missense	possibly damaging	0.91
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

Posted On

2013-11-05