Mutagenetix > Incidental Mutation

Incidental Mutation 'R9504:Ttc9b'

717727

Institutional Source

Beutler Lab

Gene Symbol

Ttc9b

Ensembl Gene

ENSMUSG00000007944

Gene Name

tetratricopeptide repeat domain 9B

Synonyms

2900074C18Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9504 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27353349-27355632 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27354394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 160 (K160R)

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: K160R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000008088
Gene: ENSMUSG00000007944
AA Change: K160R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1b1	T	C	4: 45,802,905 (GRCm39)	Y148H	probably damaging	Het
Ankib1	A	G	5: 3,763,235 (GRCm39)	V498A	probably benign	Het
Atp6v0c	A	G	17: 24,383,493 (GRCm39)	V118A	possibly damaging	Het
Bcan	G	A	3: 87,900,748 (GRCm39)	P495L	probably benign	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Ccdc178	T	C	18: 22,238,708 (GRCm39)	E303G	possibly damaging	Het
Ccdc47	T	C	11: 106,101,155 (GRCm39)	N169S	probably benign	Het
Cldn23	A	T	8: 36,293,470 (GRCm39)	V6E	probably damaging	Het
Dip2a	T	C	10: 76,132,189 (GRCm39)	T560A	probably damaging	Het
Ephb3	A	G	16: 21,036,830 (GRCm39)	S352G	possibly damaging	Het
Far2	C	A	6: 148,059,453 (GRCm39)	A256E	probably damaging	Het
Gga1	C	T	15: 78,767,528 (GRCm39)	R89C	probably damaging	Het
Hbb-bh2	A	G	7: 103,489,339 (GRCm39)	S71P	probably damaging	Het
Lama1	T	A	17: 68,128,661 (GRCm39)	V3006D		Het
Lypd9	A	G	11: 58,337,215 (GRCm39)	V86A	probably benign	Het
Mrm1	G	A	11: 84,710,132 (GRCm39)	R23W	probably damaging	Het
Nod2	A	T	8: 89,391,906 (GRCm39)	I738F	probably damaging	Het
Or1p1b	C	T	11: 74,131,094 (GRCm39)	R235C	probably benign	Het
Or4c35	G	T	2: 89,808,497 (GRCm39)	C125F	probably damaging	Het
Or8b4	A	G	9: 37,830,163 (GRCm39)	D70G	probably damaging	Het
Pkd1l1	A	G	11: 8,815,631 (GRCm39)	W1877R		Het
Psmd2	C	T	16: 20,478,160 (GRCm39)	A515V	probably benign	Het
Samd9l	A	G	6: 3,372,621 (GRCm39)	Y1547H	probably benign	Het
Sgsh	T	C	11: 119,237,375 (GRCm39)	N413S	probably benign	Het
Slmap	G	A	14: 26,136,133 (GRCm39)	P819L	probably damaging	Het
Steap4	A	G	5: 8,030,538 (GRCm39)	N465D	probably benign	Het
Sult3a2	T	C	10: 33,642,436 (GRCm39)	N289S	probably benign	Het
Tbx2	T	A	11: 85,724,038 (GRCm39)	S36T	possibly damaging	Het
Tcstv1a	G	A	13: 120,355,267 (GRCm39)	Q122*	probably null	Het
Tnk2	T	C	16: 32,498,961 (GRCm39)	V758A	possibly damaging	Het
Trrap	C	T	5: 144,742,904 (GRCm39)	T1425M	probably damaging	Het
Vinac1	C	T	2: 128,881,189 (GRCm39)	A246T		Het
Zfp959	T	A	17: 56,204,793 (GRCm39)	Y277N	probably benign	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
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
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'- CAGGTTAGCTGATTAGTGTCTCC -3'
(R):5'- TGGTAACAGCACTTCCCTGG -3'

Sequencing Primer
(F):5'- AGTGTCTCCTGGTGGCC -3'
(R):5'- AGCACTTCCCTGGGGTGG -3'

Posted On

2022-07-18