Mutagenetix > Incidental Mutation

Incidental Mutation 'R2292:Ttc9b'

245033

Institutional Source

Beutler Lab

Gene Symbol

Ttc9b

Ensembl Gene

ENSMUSG00000007944

Gene Name

tetratricopeptide repeat domain 9B

Synonyms

2900074C18Rik

MMRRC Submission

040291-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R2292 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27353349-27355632 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27355405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 225 (D225G)

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: D225G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000008088
Gene: ENSMUSG00000007944
AA Change: D225G

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

Meta Mutation Damage Score

0.0599

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.8%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,562,483 (GRCm39)	I370T	probably benign	Het
A2m	A	G	6: 121,650,518 (GRCm39)	T1209A	possibly damaging	Het
Als2	T	C	1: 59,226,544 (GRCm39)	Q920R	probably damaging	Het
Arhgap20	T	A	9: 51,760,743 (GRCm39)	Y829N	possibly damaging	Het
Arhgap35	A	T	7: 16,297,476 (GRCm39)	F530I	probably damaging	Het
Arid4a	G	T	12: 71,108,315 (GRCm39)	G40V	probably damaging	Het
Ascc2	T	C	11: 4,629,352 (GRCm39)		probably benign	Het
Cacna1b	C	T	2: 24,496,632 (GRCm39)	V2312I	probably benign	Het
Dctn6	T	C	8: 34,559,679 (GRCm39)	T159A	probably benign	Het
Ddx55	G	T	5: 124,706,140 (GRCm39)	A522S	probably benign	Het
Dnah6	G	A	6: 72,998,092 (GRCm39)	T4110I	probably damaging	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Dym	A	G	18: 75,332,283 (GRCm39)	T504A	possibly damaging	Het
E130308A19Rik	T	C	4: 59,690,579 (GRCm39)	Y138H	probably damaging	Het
Fgd4	A	T	16: 16,253,864 (GRCm39)	C568S	possibly damaging	Het
Fkbp4	A	C	6: 128,413,625 (GRCm39)	V6G	probably damaging	Het
Flg2	A	T	3: 93,127,984 (GRCm39)	S2299C	unknown	Het
Gdf2	A	T	14: 33,667,145 (GRCm39)	N289I	possibly damaging	Het
Gpr182	A	G	10: 127,586,051 (GRCm39)	I300T	possibly damaging	Het
Iqcg	A	G	16: 32,870,253 (GRCm39)	V80A	probably benign	Het
Letm1	A	AG	5: 33,926,859 (GRCm39)		probably null	Het
Lyst	T	G	13: 13,915,080 (GRCm39)	F3258C	probably damaging	Het
Map3k12	T	C	15: 102,408,574 (GRCm39)	E870G	probably damaging	Het
Mphosph10	G	A	7: 64,035,519 (GRCm39)	P384L	probably damaging	Het
Ncoa4	T	G	14: 31,895,413 (GRCm39)	L179R	probably damaging	Het
Nlrp1c-ps	A	G	11: 71,137,188 (GRCm39)		noncoding transcript	Het
Nwd2	A	T	5: 63,962,917 (GRCm39)	M834L	probably benign	Het
Or10a49	A	T	7: 108,468,223 (GRCm39)	M46K	probably benign	Het
Or2w6	A	G	13: 21,843,001 (GRCm39)	M164T	probably damaging	Het
Pccb	T	C	9: 100,876,685 (GRCm39)	E266G	probably benign	Het
Pcdhb2	T	A	18: 37,430,297 (GRCm39)		probably null	Het
Pramel25	T	C	4: 143,520,446 (GRCm39)	I66T	probably benign	Het
Prdm13	A	C	4: 21,683,914 (GRCm39)	I119S	unknown	Het
Tchh	A	G	3: 93,349,689 (GRCm39)	Y18C	probably damaging	Het
Tmem192	T	C	8: 65,411,998 (GRCm39)	V59A	probably damaging	Het
Trak2	A	T	1: 58,974,916 (GRCm39)	F92Y	probably damaging	Het
Trappc11	C	T	8: 47,958,771 (GRCm39)	G40D	probably damaging	Het
Ttc23	A	T	7: 67,319,535 (GRCm39)	I132F	probably benign	Het
Ubr3	G	T	2: 69,727,604 (GRCm39)		probably benign	Het
Vmn2r75	A	C	7: 85,798,144 (GRCm39)	C556W	probably damaging	Het
Zbtb41	T	C	1: 139,368,097 (GRCm39)	V595A	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- GAAATCTCTCTGGGTGGCTG -3'
(R):5'- ACCAGTAAACGCATGAGTCG -3'

Sequencing Primer
(F):5'- TGGTACAGCTGAGGTGCC -3'
(R):5'- AAGGTGCCCGGTGAGGTTG -3'

Posted On

2014-10-30