Mutagenetix > Incidental Mutation

Incidental Mutation 'R6748:Ttc17'

530630

Institutional Source

Beutler Lab

Gene Symbol

Ttc17

Ensembl Gene

ENSMUSG00000027194

Gene Name

tetratricopeptide repeat domain 17

Synonyms

D2Bwg1005e, 9130020K17Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.730) question?

Stock #

R6748 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94300767-94406689 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94386102 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 80 (K80R)

Ref Sequence

ENSEMBL: ENSMUSP00000106869 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094801] [ENSMUST00000111237] [ENSMUST00000111238]

AlphaFold

E9PVB5

Predicted Effect

probably benign
Transcript: ENSMUST00000094801
AA Change: K80R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000092395
Gene: ENSMUSG00000027194
AA Change: K80R

Domain	Start	End	E-Value	Type
low complexity region	22	38	N/A	INTRINSIC
internal_repeat_1	113	271	7.26e-16	PROSPERO
low complexity region	275	293	N/A	INTRINSIC
TPR	295	328	1.39e-3	SMART
coiled coil region	340	382	N/A	INTRINSIC
TPR	619	652	1.33e1	SMART
Blast:TPR	655	688	3e-10	BLAST
TPR	689	722	4.91e-4	SMART
low complexity region	899	917	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111237
AA Change: K80R

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000106868
Gene: ENSMUSG00000027194
AA Change: K80R

Domain	Start	End	E-Value	Type
low complexity region	22	38	N/A	INTRINSIC
Blast:TPR	225	258	8e-11	BLAST
low complexity region	275	293	N/A	INTRINSIC
TPR	295	328	1.39e-3	SMART
TPR	619	652	1.33e1	SMART
Blast:TPR	655	688	4e-10	BLAST
TPR	689	722	4.91e-4	SMART
low complexity region	842	860	N/A	INTRINSIC
TPR	1015	1048	2.43e1	SMART
TPR	1051	1084	6.75e1	SMART
TPR	1085	1118	6.84e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111238
AA Change: K80R

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000106869
Gene: ENSMUSG00000027194
AA Change: K80R

Domain	Start	End	E-Value	Type
low complexity region	22	38	N/A	INTRINSIC
internal_repeat_2	113	271	8.31e-15	PROSPERO
low complexity region	275	293	N/A	INTRINSIC
TPR	295	328	1.39e-3	SMART
coiled coil region	340	382	N/A	INTRINSIC
TPR	619	652	1.33e1	SMART
Blast:TPR	655	688	4e-10	BLAST
TPR	689	722	4.91e-4	SMART
low complexity region	899	917	N/A	INTRINSIC
TPR	1072	1105	2.43e1	SMART
TPR	1108	1141	6.75e1	SMART
TPR	1142	1175	6.84e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117207

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150266

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff3	C	A	1: 38,535,246	R178I	probably damaging	Het
Agr3	A	G	12: 35,947,595		probably null	Het
Aoc1	C	T	6: 48,906,294	T368I	possibly damaging	Het
Aph1c	A	G	9: 66,833,295	S50P	probably damaging	Het
Arhgap30	A	G	1: 171,404,810	E341G	possibly damaging	Het
Atp8b3	A	T	10: 80,525,224	M926K	possibly damaging	Het
C1qtnf9	A	G	14: 60,779,827	N269D	probably damaging	Het
Cdc42bpb	T	C	12: 111,294,839		probably benign	Het
Clec4a1	T	C	6: 122,933,897	I237T	possibly damaging	Het
Clpx	A	G	9: 65,310,159	N3S	probably benign	Het
Col19a1	A	G	1: 24,534,070	I207T	unknown	Het
Cyp2j8	T	A	4: 96,475,545	T294S	probably benign	Het
Dnah1	A	G	14: 31,299,988	I1186T	probably damaging	Het
Dnhd1	T	G	7: 105,720,637	V4423G	probably benign	Het
Dock4	A	T	12: 40,704,466	I485F	probably benign	Het
Drd2	T	A	9: 49,403,202	C244*	probably null	Het
Frmpd1	T	A	4: 45,274,397	I435K	probably benign	Het
Fzd5	A	G	1: 64,735,564	M346T	possibly damaging	Het
Gc	T	C	5: 89,435,572	T371A	probably benign	Het
Gm12185	T	A	11: 48,916,296	T23S	possibly damaging	Het
Gm7792	T	C	5: 93,852,213	W38R	probably benign	Het
Hbq1a	A	G	11: 32,300,169		probably null	Het
Herc1	TCCC	TCC	9: 66,501,188		probably null	Het
Il1rap	A	T	16: 26,722,356	N449I	probably benign	Het
Itgb5	T	A	16: 33,899,297	D279E	probably damaging	Het
Mat2b	T	A	11: 40,680,194	I268F	probably benign	Het
Mtor	T	C	4: 148,550,184	F2421L	probably damaging	Het
Myo5b	G	A	18: 74,701,503	R878Q	possibly damaging	Het
Nkx2-6	A	G	14: 69,175,106	D241G	probably benign	Het
Olfr1306	T	A	2: 111,912,357	N191I	possibly damaging	Het
Olfr191	T	A	16: 59,085,890	M198L	probably benign	Het
Pcdhb22	A	C	18: 37,518,746	D89A	probably damaging	Het
Pcnx2	C	T	8: 125,850,335	R986Q	probably damaging	Het
Plxna2	A	G	1: 194,794,182		probably null	Het
Ppwd1	A	T	13: 104,208,030	Y527*	probably null	Het
Rnf126	A	G	10: 79,762,136	L131P	probably benign	Het
Rsl1	T	A	13: 67,182,624	C379S	probably benign	Het
Sec23b	A	G	2: 144,566,794	Y133C	probably damaging	Het
Slc25a24	T	A	3: 109,149,507	V112D	possibly damaging	Het
Slc35f3	A	T	8: 126,394,638	R413*	probably null	Het
Tas1r2	T	C	4: 139,669,611	F754L	probably damaging	Het
Tbc1d14	A	G	5: 36,495,254	S615P	probably damaging	Het
Ttn	T	C	2: 76,746,084	T24822A	possibly damaging	Het
Vmn1r222	C	A	13: 23,232,947	R32L	probably benign	Het
Zfp354b	G	A	11: 50,922,832	T422M	probably damaging	Het
Zfp407	G	A	18: 84,208,830	T2218M	probably damaging	Het

Other mutations in Ttc17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Ttc17	APN	2	94323083	splice site	probably benign
IGL00870:Ttc17	APN	2	94371733	splice site	probably null
IGL01120:Ttc17	APN	2	94371796	missense	probably damaging	1.00
IGL01845:Ttc17	APN	2	94332832	nonsense	probably null
IGL01895:Ttc17	APN	2	94375146	missense	possibly damaging	0.80
IGL02064:Ttc17	APN	2	94330667	missense	probably damaging	1.00
IGL02296:Ttc17	APN	2	94377710	missense	probably damaging	1.00
IGL02309:Ttc17	APN	2	94342661	missense	probably benign
IGL02456:Ttc17	APN	2	94362785	splice site	probably benign
IGL02475:Ttc17	APN	2	94364376	missense	probably damaging	1.00
IGL03341:Ttc17	APN	2	94375221	missense	probably damaging	1.00
IGL03371:Ttc17	APN	2	94386105	missense	probably damaging	1.00
R0389:Ttc17	UTSW	2	94378094	missense	probably benign	0.03
R0443:Ttc17	UTSW	2	94378094	missense	probably benign	0.03
R0511:Ttc17	UTSW	2	94323120	missense	possibly damaging	0.87
R0763:Ttc17	UTSW	2	94332803	missense	probably benign	0.08
R1980:Ttc17	UTSW	2	94326704	missense	probably benign	0.14
R1981:Ttc17	UTSW	2	94326704	missense	probably benign	0.14
R1987:Ttc17	UTSW	2	94364345	missense	probably benign
R2064:Ttc17	UTSW	2	94366547	missense	probably damaging	1.00
R2147:Ttc17	UTSW	2	94301794	missense	possibly damaging	0.87
R2155:Ttc17	UTSW	2	94366642	missense	possibly damaging	0.88
R2844:Ttc17	UTSW	2	94376074	nonsense	probably null
R3719:Ttc17	UTSW	2	94364327	missense	probably benign	0.27
R3852:Ttc17	UTSW	2	94369413	missense	possibly damaging	0.86
R3947:Ttc17	UTSW	2	94376146	splice site	probably benign
R4411:Ttc17	UTSW	2	94342753	missense	probably damaging	0.97
R4461:Ttc17	UTSW	2	94366571	missense	probably benign	0.02
R4660:Ttc17	UTSW	2	94364429	missense	possibly damaging	0.51
R4762:Ttc17	UTSW	2	94371768	missense	probably damaging	1.00
R4818:Ttc17	UTSW	2	94332891	missense	possibly damaging	0.91
R4819:Ttc17	UTSW	2	94364610	missense	probably damaging	1.00
R4864:Ttc17	UTSW	2	94366635	missense	probably benign	0.01
R4870:Ttc17	UTSW	2	94366609	missense	probably damaging	1.00
R5203:Ttc17	UTSW	2	94378716	missense	probably damaging	1.00
R5288:Ttc17	UTSW	2	94303640	missense	probably damaging	1.00
R5385:Ttc17	UTSW	2	94303640	missense	probably damaging	1.00
R5386:Ttc17	UTSW	2	94303640	missense	probably damaging	1.00
R5453:Ttc17	UTSW	2	94303560	missense	probably damaging	1.00
R5583:Ttc17	UTSW	2	94377682	missense	probably damaging	1.00
R5683:Ttc17	UTSW	2	94362521	missense	probably damaging	1.00
R5921:Ttc17	UTSW	2	94378848	missense	probably damaging	1.00
R6272:Ttc17	UTSW	2	94358755	missense	probably damaging	1.00
R6444:Ttc17	UTSW	2	94303546	missense	possibly damaging	0.57
R7204:Ttc17	UTSW	2	94362428	missense	possibly damaging	0.95
R7300:Ttc17	UTSW	2	94375134	missense	probably damaging	1.00
R7446:Ttc17	UTSW	2	94375150	missense	probably damaging	0.97
R7680:Ttc17	UTSW	2	94366544	missense	probably benign	0.06
R7912:Ttc17	UTSW	2	94378821	missense	probably damaging	1.00
R8083:Ttc17	UTSW	2	94374564	missense	probably damaging	1.00
R8304:Ttc17	UTSW	2	94369181	intron	probably benign
R8381:Ttc17	UTSW	2	94301821	missense	probably damaging	1.00
R8512:Ttc17	UTSW	2	94371763	missense	probably damaging	1.00
R8737:Ttc17	UTSW	2	94376029	critical splice donor site	probably null
R8850:Ttc17	UTSW	2	94406658	missense	possibly damaging	0.55
R8886:Ttc17	UTSW	2	94375128	missense	probably benign	0.19
R8888:Ttc17	UTSW	2	94326704	missense	probably benign	0.14
R8891:Ttc17	UTSW	2	94362419	missense	probably damaging	1.00
R9336:Ttc17	UTSW	2	94358853	missense	probably benign	0.00
R9600:Ttc17	UTSW	2	94374545	missense	probably damaging	1.00
R9632:Ttc17	UTSW	2	94378752	missense	probably damaging	1.00
R9642:Ttc17	UTSW	2	94364390	missense	probably benign	0.00
R9657:Ttc17	UTSW	2	94406665	start codon destroyed	probably benign	0.02
X0013:Ttc17	UTSW	2	94330670	missense	probably damaging	1.00
X0018:Ttc17	UTSW	2	94378716	missense	probably damaging	1.00
X0025:Ttc17	UTSW	2	94324516	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- ACTCCAGGGCACTTCCTTTG -3'
(R):5'- CTAGAATGGTGATGGGCTAGC -3'

Sequencing Primer
(F):5'- GCACTTCCTTTGGTGGAGAG -3'
(R):5'- TGATGGGCTAGCAATTGAAATC -3'

Posted On

2018-08-01