Mutagenetix > Incidental Mutation

Incidental Mutation 'R5203:Ttc17'

398233

Institutional Source

Beutler Lab

Gene Symbol

Ttc17

Ensembl Gene

ENSMUSG00000027194

Gene Name

tetratricopeptide repeat domain 17

Synonyms

D2Bwg1005e, 9130020K17Rik

MMRRC Submission

042778-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.556) question?

Stock #

R5203 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94131112-94237034 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94209061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 131 (Y131C)

Ref Sequence

ENSEMBL: ENSMUSP00000106869 (fasta)

Gene Model

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

AlphaFold

E9PVB5

Predicted Effect

probably damaging
Transcript: ENSMUST00000094801
AA Change: Y131C

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

SMART Domains

Protein: ENSMUSP00000092395
Gene: ENSMUSG00000027194
AA Change: Y131C

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 damaging
Transcript: ENSMUST00000111237
AA Change: Y131C

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

SMART Domains

Protein: ENSMUSP00000106868
Gene: ENSMUSG00000027194
AA Change: Y131C

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 damaging
Transcript: ENSMUST00000111238
AA Change: Y131C

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

SMART Domains

Protein: ENSMUSP00000106869
Gene: ENSMUSG00000027194
AA Change: Y131C

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: ENSMUST00000150266

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	G	16: 4,653,462 (GRCm39)	S4A	unknown	Het
Adgrv1	A	T	13: 81,659,024 (GRCm39)	N2053K	possibly damaging	Het
Akr1c13	C	T	13: 4,247,896 (GRCm39)	R223*	probably null	Het
Arhgef11	A	G	3: 87,642,664 (GRCm39)	Y1370C	probably damaging	Het
Arid1a	T	C	4: 133,409,314 (GRCm39)	E1731G	unknown	Het
Cyp2c54	A	T	19: 40,060,918 (GRCm39)	V75E	probably damaging	Het
Fa2h	A	G	8: 112,075,996 (GRCm39)	M209T	probably benign	Het
Fam171a1	T	C	2: 3,224,582 (GRCm39)	I311T	probably damaging	Het
Fat3	C	A	9: 16,289,438 (GRCm39)	L28F	possibly damaging	Het
Fntb	C	A	12: 76,884,346 (GRCm39)	P22Q	probably benign	Het
Gmeb1	T	C	4: 131,959,320 (GRCm39)		probably null	Het
Gpr22	A	G	12: 31,759,787 (GRCm39)	S112P	probably damaging	Het
Htr7	A	G	19: 35,941,792 (GRCm39)	S464P	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Krt79	A	G	15: 101,838,175 (GRCm39)	S527P	unknown	Het
Lnpep	A	T	17: 17,757,325 (GRCm39)	D858E	probably damaging	Het
Ly9	C	A	1: 171,427,347 (GRCm39)	V403F	probably damaging	Het
Mindy4	A	G	6: 55,232,646 (GRCm39)	Q363R	probably benign	Het
Mtmr10	G	A	7: 63,967,909 (GRCm39)	V273I	probably benign	Het
Mup2	T	A	4: 60,139,728 (GRCm39)	E20V	probably damaging	Het
Myo16	A	G	8: 10,410,995 (GRCm39)	N151S	probably damaging	Het
Nod2	A	C	8: 89,391,079 (GRCm39)	D462A	probably damaging	Het
Nt5c2	A	G	19: 46,878,247 (GRCm39)	Y497H	probably damaging	Het
Or12d2	A	T	17: 37,625,092 (GRCm39)	L61Q	probably damaging	Het
Or4k44	A	C	2: 111,367,981 (GRCm39)	Y218D	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdhac1	A	T	18: 37,224,243 (GRCm39)	D352V	probably damaging	Het
Psap	A	G	10: 60,130,755 (GRCm39)	D195G	probably damaging	Het
Scyl1	G	A	19: 5,821,395 (GRCm39)		probably benign	Het
Sh3bgr	A	G	16: 96,025,720 (GRCm39)		probably benign	Het
Slc2a12	G	T	10: 22,521,213 (GRCm39)		probably null	Het
Slc2a12	G	C	10: 22,568,117 (GRCm39)	V515L	probably benign	Het
Ttc27	A	G	17: 75,084,649 (GRCm39)	D419G	probably damaging	Het
Ubxn8	T	C	8: 34,123,639 (GRCm39)	E100G	probably damaging	Het
Zpbp	T	C	11: 11,358,451 (GRCm39)	E272G	probably damaging	Het

Other mutations in Ttc17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Ttc17	APN	2	94,153,428 (GRCm39)	splice site	probably benign
IGL00870:Ttc17	APN	2	94,202,078 (GRCm39)	splice site	probably null
IGL01120:Ttc17	APN	2	94,202,141 (GRCm39)	missense	probably damaging	1.00
IGL01845:Ttc17	APN	2	94,163,177 (GRCm39)	nonsense	probably null
IGL01895:Ttc17	APN	2	94,205,491 (GRCm39)	missense	possibly damaging	0.80
IGL02064:Ttc17	APN	2	94,161,012 (GRCm39)	missense	probably damaging	1.00
IGL02296:Ttc17	APN	2	94,208,055 (GRCm39)	missense	probably damaging	1.00
IGL02309:Ttc17	APN	2	94,173,006 (GRCm39)	missense	probably benign
IGL02456:Ttc17	APN	2	94,193,130 (GRCm39)	splice site	probably benign
IGL02475:Ttc17	APN	2	94,194,721 (GRCm39)	missense	probably damaging	1.00
IGL03341:Ttc17	APN	2	94,205,566 (GRCm39)	missense	probably damaging	1.00
IGL03371:Ttc17	APN	2	94,216,450 (GRCm39)	missense	probably damaging	1.00
R0389:Ttc17	UTSW	2	94,208,439 (GRCm39)	missense	probably benign	0.03
R0443:Ttc17	UTSW	2	94,208,439 (GRCm39)	missense	probably benign	0.03
R0511:Ttc17	UTSW	2	94,153,465 (GRCm39)	missense	possibly damaging	0.87
R0763:Ttc17	UTSW	2	94,163,148 (GRCm39)	missense	probably benign	0.08
R1980:Ttc17	UTSW	2	94,157,049 (GRCm39)	missense	probably benign	0.14
R1981:Ttc17	UTSW	2	94,157,049 (GRCm39)	missense	probably benign	0.14
R1987:Ttc17	UTSW	2	94,194,690 (GRCm39)	missense	probably benign
R2064:Ttc17	UTSW	2	94,196,892 (GRCm39)	missense	probably damaging	1.00
R2147:Ttc17	UTSW	2	94,132,139 (GRCm39)	missense	possibly damaging	0.87
R2155:Ttc17	UTSW	2	94,196,987 (GRCm39)	missense	possibly damaging	0.88
R2844:Ttc17	UTSW	2	94,206,419 (GRCm39)	nonsense	probably null
R3719:Ttc17	UTSW	2	94,194,672 (GRCm39)	missense	probably benign	0.27
R3852:Ttc17	UTSW	2	94,199,758 (GRCm39)	missense	possibly damaging	0.86
R3947:Ttc17	UTSW	2	94,206,491 (GRCm39)	splice site	probably benign
R4411:Ttc17	UTSW	2	94,173,098 (GRCm39)	missense	probably damaging	0.97
R4461:Ttc17	UTSW	2	94,196,916 (GRCm39)	missense	probably benign	0.02
R4660:Ttc17	UTSW	2	94,194,774 (GRCm39)	missense	possibly damaging	0.51
R4762:Ttc17	UTSW	2	94,202,113 (GRCm39)	missense	probably damaging	1.00
R4818:Ttc17	UTSW	2	94,163,236 (GRCm39)	missense	possibly damaging	0.91
R4819:Ttc17	UTSW	2	94,194,955 (GRCm39)	missense	probably damaging	1.00
R4864:Ttc17	UTSW	2	94,196,980 (GRCm39)	missense	probably benign	0.01
R4870:Ttc17	UTSW	2	94,196,954 (GRCm39)	missense	probably damaging	1.00
R5288:Ttc17	UTSW	2	94,133,985 (GRCm39)	missense	probably damaging	1.00
R5385:Ttc17	UTSW	2	94,133,985 (GRCm39)	missense	probably damaging	1.00
R5386:Ttc17	UTSW	2	94,133,985 (GRCm39)	missense	probably damaging	1.00
R5453:Ttc17	UTSW	2	94,133,905 (GRCm39)	missense	probably damaging	1.00
R5583:Ttc17	UTSW	2	94,208,027 (GRCm39)	missense	probably damaging	1.00
R5683:Ttc17	UTSW	2	94,192,866 (GRCm39)	missense	probably damaging	1.00
R5921:Ttc17	UTSW	2	94,209,193 (GRCm39)	missense	probably damaging	1.00
R6272:Ttc17	UTSW	2	94,189,100 (GRCm39)	missense	probably damaging	1.00
R6444:Ttc17	UTSW	2	94,133,891 (GRCm39)	missense	possibly damaging	0.57
R6748:Ttc17	UTSW	2	94,216,447 (GRCm39)	missense	probably benign	0.02
R7204:Ttc17	UTSW	2	94,192,773 (GRCm39)	missense	possibly damaging	0.95
R7300:Ttc17	UTSW	2	94,205,479 (GRCm39)	missense	probably damaging	1.00
R7446:Ttc17	UTSW	2	94,205,495 (GRCm39)	missense	probably damaging	0.97
R7680:Ttc17	UTSW	2	94,196,889 (GRCm39)	missense	probably benign	0.06
R7912:Ttc17	UTSW	2	94,209,166 (GRCm39)	missense	probably damaging	1.00
R8083:Ttc17	UTSW	2	94,204,909 (GRCm39)	missense	probably damaging	1.00
R8304:Ttc17	UTSW	2	94,199,526 (GRCm39)	intron	probably benign
R8381:Ttc17	UTSW	2	94,132,166 (GRCm39)	missense	probably damaging	1.00
R8512:Ttc17	UTSW	2	94,202,108 (GRCm39)	missense	probably damaging	1.00
R8737:Ttc17	UTSW	2	94,206,374 (GRCm39)	critical splice donor site	probably null
R8850:Ttc17	UTSW	2	94,237,003 (GRCm39)	missense	possibly damaging	0.55
R8886:Ttc17	UTSW	2	94,205,473 (GRCm39)	missense	probably benign	0.19
R8888:Ttc17	UTSW	2	94,157,049 (GRCm39)	missense	probably benign	0.14
R8891:Ttc17	UTSW	2	94,192,764 (GRCm39)	missense	probably damaging	1.00
R9336:Ttc17	UTSW	2	94,189,198 (GRCm39)	missense	probably benign	0.00
R9600:Ttc17	UTSW	2	94,204,890 (GRCm39)	missense	probably damaging	1.00
R9632:Ttc17	UTSW	2	94,209,097 (GRCm39)	missense	probably damaging	1.00
R9642:Ttc17	UTSW	2	94,194,735 (GRCm39)	missense	probably benign	0.00
R9657:Ttc17	UTSW	2	94,237,010 (GRCm39)	start codon destroyed	probably benign	0.02
X0013:Ttc17	UTSW	2	94,161,015 (GRCm39)	missense	probably damaging	1.00
X0018:Ttc17	UTSW	2	94,209,061 (GRCm39)	missense	probably damaging	1.00
X0025:Ttc17	UTSW	2	94,154,861 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- GCTAATTGGTTTGCAAGCTTTC -3'
(R):5'- GCAGCTTGTCGGAAGTTCTG -3'

Sequencing Primer
(F):5'- TGCAAGCTTTCTATATACTATGTGC -3'
(R):5'- TCTAGGACTGATGAGATCCTCAGGC -3'

Posted On

2016-07-06