Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01304:Ttc9b'

73359

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 #

IGL01304

Quality Score

Status

Chromosome

Chromosomal Location

27353349-27355632 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 27355410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 227 (D227N)

Ref Sequence

ENSEMBL: ENSMUSP00000008088 (fasta)

Gene Model

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

AlphaFold

Q9D6E4

Predicted Effect

probably benign
Transcript: ENSMUST00000008088
AA Change: D227N

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

SMART Domains

Protein: ENSMUSP00000008088
Gene: ENSMUSG00000007944
AA Change: D227N

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,204,153 (GRCm39)	D79E	probably benign	Het
Aplf	A	C	6: 87,618,882 (GRCm39)	S421A	possibly damaging	Het
Arnt	T	G	3: 95,355,696 (GRCm39)	D13E	probably damaging	Het
Asap1	T	C	15: 64,184,298 (GRCm39)	E45G	probably damaging	Het
C2cd2l	T	C	9: 44,230,884 (GRCm39)	N101S	probably damaging	Het
Cby2	T	A	14: 75,830,085 (GRCm39)	D36V	possibly damaging	Het
Chmp7	G	A	14: 69,956,062 (GRCm39)	P402L	probably benign	Het
Cir1	A	T	2: 73,118,068 (GRCm39)		probably null	Het
Clock	A	G	5: 76,414,202 (GRCm39)		probably null	Het
Col18a1	T	G	10: 76,911,975 (GRCm39)		probably benign	Het
Csf2ra	G	A	19: 61,215,271 (GRCm39)	H115Y	possibly damaging	Het
Cspg5	T	A	9: 110,085,236 (GRCm39)	L469H	probably damaging	Het
Dapk2	T	C	9: 66,139,139 (GRCm39)		probably benign	Het
F13a1	T	C	13: 37,172,852 (GRCm39)	D176G	probably benign	Het
Fbn2	T	C	18: 58,194,817 (GRCm39)	E1448G	probably damaging	Het
Gtf2b	C	T	3: 142,487,359 (GRCm39)	S265L	probably benign	Het
Hmcn1	C	T	1: 150,498,675 (GRCm39)	G4068D	probably damaging	Het
Krt81	G	A	15: 101,361,269 (GRCm39)	H104Y	probably benign	Het
Ksr1	T	C	11: 78,918,468 (GRCm39)	Q562R	probably damaging	Het
Lrif1	C	T	3: 106,639,049 (GRCm39)	P20S	probably damaging	Het
Mamdc4	T	C	2: 25,453,588 (GRCm39)	T1194A	possibly damaging	Het
Med18	C	A	4: 132,186,930 (GRCm39)	A190S	probably damaging	Het
Mia2	G	A	12: 59,151,324 (GRCm39)	E105K	probably damaging	Het
Mnt	T	A	11: 74,733,011 (GRCm39)	Y48N	probably damaging	Het
Mpp4	A	C	1: 59,188,678 (GRCm39)		probably null	Het
Or4b1b	G	A	2: 90,112,425 (GRCm39)	P165S	possibly damaging	Het
Popdc3	T	G	10: 45,194,005 (GRCm39)	S269A	probably benign	Het
Ppp6r3	A	T	19: 3,517,261 (GRCm39)	M662K	probably damaging	Het
Qser1	C	A	2: 104,617,976 (GRCm39)	Q945H	probably damaging	Het
Rad52	A	G	6: 119,895,594 (GRCm39)	E198G	probably damaging	Het
Ranbp17	A	G	11: 33,216,147 (GRCm39)	V867A	possibly damaging	Het
Rdh16	G	T	10: 127,649,365 (GRCm39)	A274S	probably benign	Het
Slco1a5	G	T	6: 142,187,876 (GRCm39)	Q488K	probably benign	Het
Snai2	T	C	16: 14,524,635 (GRCm39)	I47T	probably benign	Het
Snw1	T	C	12: 87,500,685 (GRCm39)	D358G	possibly damaging	Het
Speg	T	C	1: 75,404,841 (GRCm39)	F2878L	probably benign	Het
Spg11	T	C	2: 121,902,771 (GRCm39)	Y1386C	probably damaging	Het
Tgfb2	A	C	1: 186,357,670 (GRCm39)	I435S	probably damaging	Het
Txndc2	T	C	17: 65,945,448 (GRCm39)	E243G	possibly damaging	Het
Usp28	A	G	9: 48,938,119 (GRCm39)	D563G	probably damaging	Het
Vmn1r77	T	C	7: 11,775,962 (GRCm39)	V178A	probably damaging	Het
Zfp316	A	G	5: 143,240,181 (GRCm39)	F613L	probably benign	Het
Zfp870	A	T	17: 33,101,980 (GRCm39)	C450S	possibly damaging	Het

Other mutations in Ttc9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02282:Ttc9b	APN	7	27,355,336 (GRCm39)	missense	probably damaging	1.00
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

2013-10-07