Mutagenetix > Incidental Mutation

Incidental Mutation 'R2064:Ttc17'

228929

Institutional Source

Beutler Lab

Gene Symbol

Ttc17

Ensembl Gene

ENSMUSG00000027194

Gene Name

tetratricopeptide repeat domain 17

Synonyms

D2Bwg1005e, 9130020K17Rik

MMRRC Submission

040069-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.556) question?

Stock #

R2064 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94131112-94237034 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 94196892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 485 (W485L)

Ref Sequence

ENSEMBL: ENSMUSP00000106869 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055081] [ENSMUST00000094801] [ENSMUST00000111237] [ENSMUST00000111238]

AlphaFold

E9PVB5

Predicted Effect

probably benign
Transcript: ENSMUST00000055081

SMART Domains

Protein: ENSMUSP00000061360
Gene: ENSMUSG00000027194

Domain	Start	End	E-Value	Type
TPR	46	79	1.33e1	SMART
Blast:TPR	82	115	3e-10	BLAST
TPR	116	149	4.91e-4	SMART
low complexity region	326	344	N/A	INTRINSIC
TPR	499	532	2.43e1	SMART
TPR	535	568	6.75e1	SMART
TPR	569	602	6.84e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000094801
AA Change: W485L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092395
Gene: ENSMUSG00000027194
AA Change: W485L

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: W485L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106868
Gene: ENSMUSG00000027194
AA Change: W485L

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: W485L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106869
Gene: ENSMUSG00000027194
AA Change: W485L

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: ENSMUST00000150215

Meta Mutation Damage Score

0.2740

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

99% (114/115)

Allele List at MGI

Other mutations in this stock

Total: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 66,964,308 (GRCm39)	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,583,115 (GRCm39)		probably benign	Het
Actr1b	A	G	1: 36,741,168 (GRCm39)	F138L	possibly damaging	Het
Adamts14	G	T	10: 61,041,301 (GRCm39)	P803Q	probably benign	Het
Afap1l1	A	T	18: 61,872,193 (GRCm39)		probably null	Het
Akt3	A	G	1: 176,930,551 (GRCm39)	S136P	possibly damaging	Het
Aldh16a1	C	T	7: 44,796,585 (GRCm39)		probably null	Het
Alg12	A	G	15: 88,696,318 (GRCm39)	W238R	probably damaging	Het
Amy2a1	T	C	3: 113,324,217 (GRCm39)	I108V	probably benign	Het
Arhgap23	T	A	11: 97,383,888 (GRCm39)	C1144S	probably benign	Het
Arhgef40	G	A	14: 52,233,640 (GRCm39)	V829M	probably damaging	Het
Atg7	C	A	6: 114,680,324 (GRCm39)	N344K	probably damaging	Het
Aunip	T	A	4: 134,250,618 (GRCm39)	S188T	probably benign	Het
Bmpr1b	A	T	3: 141,576,568 (GRCm39)	H88Q	probably benign	Het
Brpf3	G	A	17: 29,040,338 (GRCm39)	G920S	probably benign	Het
Cdc123	C	T	2: 5,800,354 (GRCm39)		probably benign	Het
Cdhr1	T	C	14: 36,817,062 (GRCm39)	R100G	probably benign	Het
Cdkn2d	A	G	9: 21,202,175 (GRCm39)	V24A	probably damaging	Het
Cirbp	T	C	10: 80,006,166 (GRCm39)		probably benign	Het
Clptm1l	C	T	13: 73,755,842 (GRCm39)	Q153*	probably null	Het
Col12a1	A	G	9: 79,569,736 (GRCm39)		probably benign	Het
Cplane1	T	A	15: 8,215,649 (GRCm39)	S402T	probably damaging	Het
Cpox	T	A	16: 58,494,772 (GRCm39)	C270S	probably benign	Het
Cspg4	A	G	9: 56,803,940 (GRCm39)	D1677G	probably damaging	Het
Cyp4a10	T	A	4: 115,381,917 (GRCm39)		probably benign	Het
Dctn4	T	C	18: 60,671,349 (GRCm39)	F74L	possibly damaging	Het
Dennd5a	G	A	7: 109,497,900 (GRCm39)		probably benign	Het
Dnaaf3	T	C	7: 4,526,798 (GRCm39)	I426M	possibly damaging	Het
Dnah9	C	T	11: 66,036,261 (GRCm39)	S185N	probably benign	Het
Dqx1	T	G	6: 83,035,524 (GRCm39)		probably benign	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Endov	T	C	11: 119,390,408 (GRCm39)	F12S	probably damaging	Het
Ep400	A	C	5: 110,883,270 (GRCm39)		probably benign	Het
Epha1	G	T	6: 42,342,987 (GRCm39)	H187Q	probably benign	Het
Exoc2	T	C	13: 31,119,544 (GRCm39)	D119G	probably benign	Het
Fbn2	C	T	18: 58,181,921 (GRCm39)	E1827K	probably damaging	Het
Fbxo41	C	T	6: 85,455,453 (GRCm39)	W577*	probably null	Het
Fgd6	G	A	10: 93,880,903 (GRCm39)	A586T	probably damaging	Het
Gm12695	T	C	4: 96,657,963 (GRCm39)	T69A	probably benign	Het
Gm12888	A	T	4: 121,182,069 (GRCm39)	W8R	unknown	Het
Gm2959	A	G	14: 42,235,658 (GRCm39)		noncoding transcript	Het
Gm6214	A	G	3: 140,544,978 (GRCm39)		noncoding transcript	Het
Gm9912	T	C	3: 148,890,795 (GRCm39)	T113A	unknown	Het
Gmeb2	A	G	2: 180,895,763 (GRCm39)	L469P	probably benign	Het
Gosr1	T	C	11: 76,628,224 (GRCm39)	I177V	probably benign	Het
Gria1	T	C	11: 57,208,534 (GRCm39)	F810L	probably damaging	Het
Gtf2ird2	C	T	5: 134,245,340 (GRCm39)	Q533*	probably null	Het
Hadhb	T	A	5: 30,378,796 (GRCm39)		probably null	Het
Hat1	A	T	2: 71,240,504 (GRCm39)	Y66F	possibly damaging	Het
Hk1	T	C	10: 62,122,315 (GRCm39)	Y488C	probably benign	Het
Htt	C	T	5: 34,983,326 (GRCm39)	T975I	probably benign	Het
Ifnb1	T	A	4: 88,440,996 (GRCm39)	I6F	possibly damaging	Het
Il19	T	C	1: 130,866,854 (GRCm39)	H42R	probably benign	Het
Il2rg	A	G	X: 100,311,416 (GRCm39)	L57P	possibly damaging	Het
Impg2	G	A	16: 56,063,993 (GRCm39)		probably null	Het
Invs	T	A	4: 48,396,287 (GRCm39)	L320Q	probably damaging	Het
Itga9	T	C	9: 118,636,361 (GRCm39)	F683S	probably damaging	Het
Itih2	A	G	2: 10,135,385 (GRCm39)	S2P	possibly damaging	Het
Itpr3	G	A	17: 27,317,050 (GRCm39)	M768I	probably benign	Het
Kcnab1	A	G	3: 65,272,060 (GRCm39)	E315G	probably benign	Het
Kcnmb2	A	C	3: 32,252,437 (GRCm39)	I213L	probably damaging	Het
Khdc1a	T	A	1: 21,421,196 (GRCm39)	M127K	probably benign	Het
Klhl28	T	C	12: 64,990,246 (GRCm39)	N565S	probably benign	Het
Lcp1	A	G	14: 75,435,515 (GRCm39)		probably null	Het
Mcm4	T	C	16: 15,452,333 (GRCm39)	T267A	possibly damaging	Het
Mlxipl	A	T	5: 135,161,631 (GRCm39)	T517S	possibly damaging	Het
Mpp3	T	A	11: 101,891,516 (GRCm39)	I541L	probably benign	Het
Mpp4	G	A	1: 59,182,941 (GRCm39)	P322L	possibly damaging	Het
Myh15	G	A	16: 48,975,984 (GRCm39)	A1351T	possibly damaging	Het
Nacc1	A	T	8: 85,399,747 (GRCm39)	M490K	probably benign	Het
Nbeal1	C	A	1: 60,309,515 (GRCm39)	Q496K	possibly damaging	Het
Oas1g	T	C	5: 121,023,946 (GRCm39)	E121G	probably damaging	Het
Or14j1	T	A	17: 38,145,893 (GRCm39)	M1K	probably null	Het
Pard3	T	C	8: 128,337,092 (GRCm39)	L1236P	probably damaging	Het
Phc2	T	C	4: 128,640,929 (GRCm39)	F672S	probably damaging	Het
Phf21a	C	A	2: 92,157,422 (GRCm39)	N183K	possibly damaging	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Prl3c1	G	A	13: 27,380,720 (GRCm39)		probably null	Het
Prl7a2	T	A	13: 27,844,870 (GRCm39)	Y172F	probably damaging	Het
Psg16	T	G	7: 16,827,673 (GRCm39)	S210A	possibly damaging	Het
Psg25	T	A	7: 18,255,178 (GRCm39)	K446M	probably damaging	Het
Ptprz1	A	G	6: 23,050,388 (GRCm39)		probably benign	Het
Rgs7	A	T	1: 174,949,508 (GRCm39)	F160L	probably damaging	Het
Rpl22l1	A	T	3: 28,860,957 (GRCm39)	E57D	possibly damaging	Het
Rpl35	A	G	2: 38,894,753 (GRCm39)	L44P	possibly damaging	Het
Rtn4r	T	C	16: 17,969,121 (GRCm39)	L183P	probably damaging	Het
Skint1	T	A	4: 111,882,730 (GRCm39)	V258D	probably benign	Het
Slc4a7	G	A	14: 14,733,773 (GRCm38)	R67H	probably damaging	Het
Smg1	C	T	7: 117,756,090 (GRCm39)		probably benign	Het
Smurf2	T	C	11: 106,762,374 (GRCm39)	T39A	probably damaging	Het
Sspo	A	T	6: 48,450,596 (GRCm39)	D2595V	probably damaging	Het
Tatdn2	A	G	6: 113,681,103 (GRCm39)	K379E	probably benign	Het
Tbc1d14	G	A	5: 36,680,274 (GRCm39)	R68*	probably null	Het
Tgm1	A	G	14: 55,946,928 (GRCm39)	I360T	probably damaging	Het
Thrap3	T	C	4: 126,069,189 (GRCm39)	Y654C	possibly damaging	Het
Traf1	A	T	2: 34,838,202 (GRCm39)	I212N	probably benign	Het
Ttn	C	A	2: 76,768,675 (GRCm39)	V2920F	probably damaging	Het
Tyr	T	C	7: 87,142,051 (GRCm39)	I93V	probably benign	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Vmn1r212	A	G	13: 23,068,285 (GRCm39)	V16A	probably benign	Het
Vmn1r55	A	G	7: 5,150,048 (GRCm39)	V125A	possibly damaging	Het
Vmn2r120	T	A	17: 57,831,553 (GRCm39)	H412L	possibly damaging	Het
Xirp1	T	C	9: 119,845,962 (GRCm39)	I974V	probably benign	Het
Zap70	A	G	1: 36,818,215 (GRCm39)	T301A	probably benign	Het
Zfhx4	A	G	3: 5,463,987 (GRCm39)	K1382E	probably damaging	Het
Zfp280b	T	A	10: 75,875,017 (GRCm39)	C299S	probably damaging	Het
Zfp352	C	T	4: 90,113,357 (GRCm39)	S499L	probably benign	Het
Zfp423	G	A	8: 88,507,986 (GRCm39)	A661V	probably benign	Het
Zfp57	T	A	17: 37,320,568 (GRCm39)	F141I	possibly damaging	Het
Zfp946	A	T	17: 22,674,446 (GRCm39)	H400L	probably damaging	Het
Zgrf1	T	C	3: 127,406,999 (GRCm39)	C1589R	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
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
R5203:Ttc17	UTSW	2	94,209,061 (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'- ATCTGTCCCAGTTGACTGTG -3'
(R):5'- CCTCATGACTACATTTTGAGTCAC -3'

Sequencing Primer
(F):5'- GGGAAGAGCTTACTGACCCATAATTC -3'
(R):5'- TGACTACATTTTGAGTCACAATTGG -3'

Posted On

2014-09-17