Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02282:Ttc9b'

289880

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttc9b

Ensembl Gene

ENSMUSG00000007944

Gene Name

tetratricopeptide repeat domain 9B

Synonyms

2900074C18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

IGL02282

Quality Score

Status

Chromosome

Chromosomal Location

27353349-27355632 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27355336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 202 (D202V)

Ref Sequence

ENSEMBL: ENSMUSP00000008088 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008088] [ENSMUST00000036453] [ENSMUST00000108341]

AlphaFold

Q9D6E4

Predicted Effect

probably damaging
Transcript: ENSMUST00000008088
AA Change: D202V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000008088
Gene: ENSMUSG00000007944
AA Change: D202V

Domain	Start	End	E-Value	Type
low complexity region	12	36	N/A	INTRINSIC
low complexity region	49	65	N/A	INTRINSIC
Blast:TPR	66	95	2e-7	BLAST
low complexity region	101	117	N/A	INTRINSIC
Blast:TPR	133	168	1e-10	BLAST
Pfam:TPR_2	169	202	3.3e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000036453

SMART Domains

Protein: ENSMUSP00000037725
Gene: ENSMUSG00000040390

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
SH3	19	80	6e-20	SMART
Pfam:Pkinase	98	357	7.4e-59	PFAM
Pfam:Pkinase_Tyr	98	357	3.8e-62	PFAM
coiled coil region	378	449	N/A	INTRINSIC
low complexity region	501	511	N/A	INTRINSIC
low complexity region	524	550	N/A	INTRINSIC
low complexity region	665	676	N/A	INTRINSIC
low complexity region	761	778	N/A	INTRINSIC
low complexity region	835	847	N/A	INTRINSIC
low complexity region	870	881	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108341

SMART Domains

Protein: ENSMUSP00000103978
Gene: ENSMUSG00000040390

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
SH3	19	80	6e-20	SMART
Pfam:Pkinase_Tyr	98	357	2e-62	PFAM
Pfam:Pkinase	98	358	4.8e-59	PFAM
coiled coil region	378	449	N/A	INTRINSIC
low complexity region	501	511	N/A	INTRINSIC
low complexity region	524	550	N/A	INTRINSIC
low complexity region	665	676	N/A	INTRINSIC
low complexity region	761	778	N/A	INTRINSIC
low complexity region	837	849	N/A	INTRINSIC
low complexity region	872	883	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206810

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,983,351 (GRCm39)	D1545G	probably damaging	Het
Baiap3	A	C	17: 25,468,351 (GRCm39)	D234E	probably benign	Het
Bltp2	C	T	11: 78,175,054 (GRCm39)	P1730S	probably benign	Het
Cand1	T	A	10: 119,046,614 (GRCm39)	T959S	probably benign	Het
Ctdspl2	A	G	2: 121,807,959 (GRCm39)		probably benign	Het
Cyp2a4	A	C	7: 26,008,472 (GRCm39)	M205L	probably benign	Het
Dlx5	G	A	6: 6,881,762 (GRCm39)	A42V	probably damaging	Het
Dnah7a	A	G	1: 53,682,669 (GRCm39)	I267T	possibly damaging	Het
Dnajb6	A	G	5: 29,957,416 (GRCm39)	D66G	probably damaging	Het
Fgf8	T	C	19: 45,725,529 (GRCm39)	H201R	possibly damaging	Het
Gpc1	A	G	1: 92,785,689 (GRCm39)	K460E	probably damaging	Het
Gzme	A	T	14: 56,355,826 (GRCm39)	L162Q	probably damaging	Het
Ik	G	A	18: 36,878,697 (GRCm39)	G17D	probably damaging	Het
Il4	G	A	11: 53,509,001 (GRCm39)	T59M	probably damaging	Het
Kcnh3	G	T	15: 99,125,924 (GRCm39)		probably null	Het
Mill1	G	T	7: 17,997,129 (GRCm39)		probably null	Het
Npbwr1	A	T	1: 5,987,184 (GRCm39)	M110K	possibly damaging	Het
Opalin	A	T	19: 41,054,943 (GRCm39)	S84T	probably benign	Het
Or10w1	T	A	19: 13,632,622 (GRCm39)	D276E	probably damaging	Het
Or7g30	A	G	9: 19,352,914 (GRCm39)	Y235C	probably benign	Het
Or8b35	A	T	9: 37,904,318 (GRCm39)	I177F	probably damaging	Het
Pcdhb11	T	C	18: 37,556,881 (GRCm39)	L737P	probably damaging	Het
Phip	G	A	9: 82,795,743 (GRCm39)	S626L	probably benign	Het
Ppl	T	C	16: 4,919,322 (GRCm39)	D435G	probably damaging	Het
Prss37	A	G	6: 40,492,317 (GRCm39)	V178A	possibly damaging	Het
Ptpn7	A	G	1: 135,062,572 (GRCm39)	I104V	probably damaging	Het
Ptprn	A	G	1: 75,229,800 (GRCm39)	Y700H	probably damaging	Het
Rab11fip5	T	A	6: 85,314,534 (GRCm39)	T555S	probably damaging	Het
Rfwd3	A	T	8: 112,020,614 (GRCm39)		probably benign	Het
Robo1	G	A	16: 72,539,026 (GRCm39)	R41H	probably damaging	Het
Rps3	A	G	7: 99,128,479 (GRCm39)		probably null	Het
Ruvbl2	G	A	7: 45,074,589 (GRCm39)	T183I	probably benign	Het
Sema4c	A	T	1: 36,589,284 (GRCm39)		probably null	Het
Shoc1	A	C	4: 59,111,114 (GRCm39)	Y53D	unknown	Het
Taar8b	T	A	10: 23,967,453 (GRCm39)	K247I	possibly damaging	Het
Tacr3	A	T	3: 134,566,834 (GRCm39)	I236F	probably benign	Het
Ttc21b	A	G	2: 66,022,081 (GRCm39)	I1168T	probably damaging	Het
Vmn2r26	T	G	6: 124,038,584 (GRCm39)	C720G	probably damaging	Het
Vmn2r37	A	G	7: 9,209,761 (GRCm39)	S584P	probably benign	Het
Wnk2	T	A	13: 49,221,601 (GRCm39)	D1208V	probably damaging	Het
Zfp988	T	A	4: 147,416,125 (GRCm39)	C186*	probably null	Het
Zp3	A	G	5: 136,013,205 (GRCm39)	N179S	possibly damaging	Het

Other mutations in Ttc9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01304:Ttc9b	APN	7	27,355,410 (GRCm39)	missense	probably benign
IGL03024:Ttc9b	APN	7	27,354,358 (GRCm39)	missense	probably damaging	1.00
R2131:Ttc9b	UTSW	7	27,353,774 (GRCm39)	critical splice donor site	probably null
R2133:Ttc9b	UTSW	7	27,353,774 (GRCm39)	critical splice donor site	probably null
R2292:Ttc9b	UTSW	7	27,355,405 (GRCm39)	missense	probably benign	0.02
R4734:Ttc9b	UTSW	7	27,355,443 (GRCm39)	missense	probably benign	0.29
R6516:Ttc9b	UTSW	7	27,355,412 (GRCm39)	missense	probably benign
R7054:Ttc9b	UTSW	7	27,353,667 (GRCm39)	missense	probably benign
R7366:Ttc9b	UTSW	7	27,354,384 (GRCm39)	missense	probably damaging	1.00
R7790:Ttc9b	UTSW	7	27,353,761 (GRCm39)	missense	probably benign	0.00
R8324:Ttc9b	UTSW	7	27,353,394 (GRCm39)	missense	probably damaging	1.00
R9504:Ttc9b	UTSW	7	27,354,394 (GRCm39)	missense	probably damaging	1.00
R9620:Ttc9b	UTSW	7	27,353,512 (GRCm39)	missense	probably damaging	0.96
R9713:Ttc9b	UTSW	7	27,353,475 (GRCm39)	missense	probably benign
Z1177:Ttc9b	UTSW	7	27,353,667 (GRCm39)	missense	probably benign

Posted On

2015-04-16