Mutagenetix > Incidental Mutation

Incidental Mutation 'R6516:Ttc9b'

520703

Institutional Source

Beutler Lab

Gene Symbol

Ttc9b

Ensembl Gene

ENSMUSG00000007944

Gene Name

tetratricopeptide repeat domain 9B

Synonyms

2900074C18Rik

MMRRC Submission

044643-MU

Accession Numbers

Essential gene?

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

Stock #

R6516 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27353349-27355632 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27355412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 227 (D227E)

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: D227E

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

SMART Domains

Protein: ENSMUSP00000008088
Gene: ENSMUSG00000007944
AA Change: D227E

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

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	A	T	1: 161,780,235 (GRCm39)	V93E	probably benign	Het
Adam18	A	G	8: 25,164,703 (GRCm39)	L4P	probably damaging	Het
Adcy8	A	T	15: 64,571,236 (GRCm39)	Y1136N	probably damaging	Het
Adgrl3	A	G	5: 81,613,119 (GRCm39)	Y184C	probably damaging	Het
Ankrd6	G	A	4: 32,836,427 (GRCm39)	R43W	probably damaging	Het
Ano8	G	T	8: 71,934,424 (GRCm39)		probably null	Het
Arhgap31	A	G	16: 38,429,766 (GRCm39)	F370L	possibly damaging	Het
C7	A	G	15: 5,086,563 (GRCm39)	V26A	probably damaging	Het
Cimap1a	G	A	7: 140,428,718 (GRCm39)	G128S	probably damaging	Het
Clec4a2	C	A	6: 123,116,365 (GRCm39)	Q153K	probably damaging	Het
Cyp2c67	T	A	19: 39,605,873 (GRCm39)	D341V	probably damaging	Het
Ddo	T	A	10: 40,507,741 (GRCm39)	V46E	probably damaging	Het
Deup1	A	C	9: 15,521,910 (GRCm39)	M85R	probably damaging	Het
Dmxl2	A	T	9: 54,323,960 (GRCm39)	S1141R	probably damaging	Het
Dnah2	A	G	11: 69,356,212 (GRCm39)	F2147L	probably benign	Het
Dock10	T	C	1: 80,518,178 (GRCm39)	E1298G	probably damaging	Het
Dock4	T	A	12: 40,781,898 (GRCm39)	V701E	possibly damaging	Het
Dthd1	A	T	5: 62,996,607 (GRCm39)	K447N	probably benign	Het
Eno2	G	T	6: 124,738,672 (GRCm39)		probably null	Het
Fastkd5	T	A	2: 130,456,221 (GRCm39)	T790S	possibly damaging	Het
Fer1l4	C	T	2: 155,877,119 (GRCm39)	V1139M	probably damaging	Het
Gpbp1	A	T	13: 111,589,636 (GRCm39)	H111Q	probably benign	Het
Grk3	A	T	5: 113,109,415 (GRCm39)		probably benign	Het
Itpr3	C	T	17: 27,310,344 (GRCm39)	A403V	probably benign	Het
Kcnc2	A	G	10: 112,297,905 (GRCm39)	T610A	probably benign	Het
Kcnh1	T	A	1: 192,101,089 (GRCm39)	D560E	possibly damaging	Het
Klc4	A	T	17: 46,953,181 (GRCm39)	N116K	probably damaging	Het
Krba1	C	T	6: 48,390,206 (GRCm39)	Q656*	probably null	Het
Mchr1	A	G	15: 81,122,069 (GRCm39)	Y273C	probably damaging	Het
Myh15	T	A	16: 48,957,996 (GRCm39)	C938S	probably benign	Het
Nutm1	T	C	2: 112,081,562 (GRCm39)	E367G	probably damaging	Het
Or10a3n	A	T	7: 108,492,972 (GRCm39)	I214K	probably damaging	Het
Or4e2	A	T	14: 52,688,586 (GRCm39)	T239S	probably damaging	Het
Or5w18	A	T	2: 87,633,114 (GRCm39)	Y127F	possibly damaging	Het
Or8b48	A	G	9: 38,492,768 (GRCm39)	N65S	probably damaging	Het
Pikfyve	G	T	1: 65,304,940 (GRCm39)	M1697I	probably benign	Het
Plcd1	A	G	9: 118,905,271 (GRCm39)	S147P	probably damaging	Het
Plin3	G	A	17: 56,593,223 (GRCm39)	P113L	probably damaging	Het
Pum3	C	A	19: 27,403,408 (GRCm39)	S31I	probably benign	Het
Robo1	T	C	16: 72,821,241 (GRCm39)	V1327A	probably benign	Het
Rpl15-ps6	A	G	15: 52,341,200 (GRCm39)		noncoding transcript	Het
Rpl34	G	A	3: 130,522,716 (GRCm39)	P50L	probably benign	Het
Scnn1b	T	C	7: 121,511,335 (GRCm39)	S341P	probably damaging	Het
Sh3bp5	A	T	14: 31,097,629 (GRCm39)	M362K	possibly damaging	Het
Slc24a5	A	G	2: 124,930,027 (GRCm39)	T443A	probably benign	Het
Slc25a12	T	C	2: 71,154,427 (GRCm39)	Y81C	probably damaging	Het
Slc43a3	A	G	2: 84,788,105 (GRCm39)	T496A	probably benign	Het
Smap2	C	T	4: 120,840,303 (GRCm39)		probably null	Het
Sptbn5	T	A	2: 119,878,431 (GRCm39)		probably benign	Het
Taar5	A	G	10: 23,847,564 (GRCm39)	S321G	possibly damaging	Het
Tbx21	T	C	11: 96,990,782 (GRCm39)	I299V	possibly damaging	Het
Tcerg1	T	C	18: 42,663,957 (GRCm39)		probably null	Het
Tenm3	G	C	8: 48,870,257 (GRCm39)	Q179E	probably benign	Het
Tmem176a	T	G	6: 48,821,002 (GRCm39)		probably null	Het
Tmem236	T	C	2: 14,200,791 (GRCm39)	S119P	probably benign	Het
Tmprss11a	C	T	5: 86,567,987 (GRCm39)	V247M	probably damaging	Het
Tnks1bp1	T	C	2: 84,901,071 (GRCm39)	S1593P	probably damaging	Het
Usp33	A	C	3: 152,079,053 (GRCm39)	Q435P	probably benign	Het
Vti1a	C	T	19: 55,369,390 (GRCm39)	A94V	probably damaging	Het
Wdr3	A	G	3: 100,052,992 (GRCm39)	Y587H	probably damaging	Het
Wwc1	G	A	11: 35,758,129 (GRCm39)	A739V	probably benign	Het
Zfp628	C	G	7: 4,923,201 (GRCm39)	Y474*	probably null	Het
Zfp820	A	T	17: 22,038,354 (GRCm39)	C325S	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
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
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'- AAATCTCTCTGGGTGGCTGGTAC -3'
(R):5'- CAGTAAACGCATGAGTCGGG -3'

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

Posted On

2018-06-06