Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03167:Trabd2b'

411670

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 #

IGL03167

Quality Score

Status

Chromosome

Chromosomal Location

114263921-114472295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114467195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 475 (S475P)

Ref Sequence

ENSEMBL: ENSMUSP00000092494 (fasta)

Gene Model

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

AlphaFold

B1ATG9

Predicted Effect

probably benign
Transcript: ENSMUST00000094894
AA Change: S475P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092494
Gene: ENSMUSG00000070867
AA Change: S475P

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl3	A	C	6: 34,834,594 (GRCm39)	K921T	possibly damaging	Het
Agtpbp1	A	T	13: 59,679,894 (GRCm39)		probably benign	Het
Ankrd22	A	T	19: 34,143,174 (GRCm39)	M1K	probably null	Het
Ano5	G	A	7: 51,235,259 (GRCm39)	V698I	probably damaging	Het
Ccnh	A	G	13: 85,345,685 (GRCm39)		probably benign	Het
Col15a1	A	T	4: 47,282,635 (GRCm39)	I771F	probably damaging	Het
Dmrt1	T	C	19: 25,523,257 (GRCm39)	S203P	possibly damaging	Het
Exoc5	A	T	14: 49,288,802 (GRCm39)	V82E	probably damaging	Het
Ffar3	A	T	7: 30,554,780 (GRCm39)	V180E	probably damaging	Het
Fhad1	T	C	4: 141,700,108 (GRCm39)	S381G	probably benign	Het
Foxf1	C	A	8: 121,811,647 (GRCm39)	Y170*	probably null	Het
Glis1	A	G	4: 107,293,102 (GRCm39)	D75G	possibly damaging	Het
Gpr151	T	C	18: 42,711,439 (GRCm39)	H413R	probably benign	Het
Gtf3c1	T	C	7: 125,269,752 (GRCm39)		probably null	Het
Htt	T	A	5: 34,976,330 (GRCm39)	F711I	probably damaging	Het
Il1rapl1	A	G	X: 85,790,867 (GRCm39)	I691T	possibly damaging	Het
Iqgap2	T	C	13: 95,821,406 (GRCm39)	Y579C	probably benign	Het
Lingo3	A	G	10: 80,671,178 (GRCm39)	S251P	probably damaging	Het
Mbl1	T	A	14: 40,880,543 (GRCm39)	S144T	probably benign	Het
Musk	A	T	4: 58,366,821 (GRCm39)	R462W	possibly damaging	Het
Mynn	T	C	3: 30,663,191 (GRCm39)	L373P	probably damaging	Het
Myoz2	G	A	3: 122,800,139 (GRCm39)	R230*	probably null	Het
Nup35	A	G	2: 80,488,660 (GRCm39)		probably benign	Het
Or14a259	C	T	7: 86,013,128 (GRCm39)	C139Y	probably damaging	Het
Or2d4	A	G	7: 106,543,852 (GRCm39)	S119P	probably damaging	Het
Or5ak4	C	T	2: 85,161,664 (GRCm39)	D193N	probably benign	Het
Or5m3	T	A	2: 85,838,511 (GRCm39)	Y130*	probably null	Het
Pira2	A	T	7: 3,843,919 (GRCm39)	S618T	probably damaging	Het
Plch1	G	A	3: 63,630,165 (GRCm39)		probably benign	Het
Pparg	T	G	6: 115,450,188 (GRCm39)	F396V	probably damaging	Het
Scaper	T	C	9: 55,767,108 (GRCm39)	E441G	probably damaging	Het
Serpinb2	T	A	1: 107,450,485 (GRCm39)	C161S	probably benign	Het
Skint5	C	T	4: 113,751,047 (GRCm39)	E333K	unknown	Het
Slc22a8	C	T	19: 8,587,322 (GRCm39)	P461S	probably damaging	Het
Slc38a6	C	T	12: 73,397,311 (GRCm39)	Q318*	probably null	Het
Sycp2	T	C	2: 178,021,291 (GRCm39)	K512E	probably damaging	Het
Tas2r103	T	A	6: 133,013,623 (GRCm39)	N148Y	probably damaging	Het
Tcf7l1	A	G	6: 72,609,979 (GRCm39)	M257T	possibly damaging	Het
Tert	T	A	13: 73,788,119 (GRCm39)	N792K	probably damaging	Het
Thada	A	T	17: 84,766,277 (GRCm39)	V43E	probably damaging	Het
Vmn2r117	A	G	17: 23,696,681 (GRCm39)	V242A	probably damaging	Het
Ypel3	A	T	7: 126,379,247 (GRCm39)	I107F	probably damaging	Het
Zfp352	T	C	4: 90,112,939 (GRCm39)	S360P	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
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
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

2016-08-02