Mutagenetix > Incidental Mutation

Incidental Mutation 'R7912:Ttc17'

610562

Institutional Source

Beutler Lab

Gene Symbol

Ttc17

Ensembl Gene

ENSMUSG00000027194

Gene Name

tetratricopeptide repeat domain 17

Synonyms

D2Bwg1005e, 9130020K17Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.556) question?

Stock #

R7912 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94131112-94237034 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94209166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 96 (N96I)

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: N96I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092395
Gene: ENSMUSG00000027194
AA Change: N96I

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: N96I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106868
Gene: ENSMUSG00000027194
AA Change: N96I

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: N96I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106869
Gene: ENSMUSG00000027194
AA Change: N96I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	G	5: 88,120,451 (GRCm39)	T403A	probably benign	Het
Aco1	T	C	4: 40,184,983 (GRCm39)	L551S	probably damaging	Het
Acvr1	C	T	2: 58,364,230 (GRCm39)	V200I	probably damaging	Het
Adam26b	T	A	8: 43,973,245 (GRCm39)	T586S	probably benign	Het
Ahctf1	T	C	1: 179,580,656 (GRCm39)	R1849G	probably benign	Het
Alox5	T	A	6: 116,389,497 (GRCm39)	D590V	probably benign	Het
Anapc5	A	G	5: 122,931,498 (GRCm39)		probably null	Het
Anln	T	C	9: 22,269,965 (GRCm39)	E743G	possibly damaging	Het
Anpep	T	C	7: 79,488,174 (GRCm39)	K496R	probably benign	Het
Aox3	T	A	1: 58,181,855 (GRCm39)	S281T	probably benign	Het
Arhgef11	C	A	3: 87,640,529 (GRCm39)	P1258T	probably damaging	Het
Atp2c2	A	T	8: 120,456,917 (GRCm39)	D173V	possibly damaging	Het
Aurka	T	G	2: 172,210,949 (GRCm39)	D22A	probably benign	Het
B3gat1	A	T	9: 26,666,882 (GRCm39)	D51V	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	TGGTTCTGTGGTCAC	TGGTTCTGTGGTCACGGGTTCTGTGGTCAC	3: 95,795,483 (GRCm39)		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCGCTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,795,466 (GRCm39)		probably benign	Het
BC028528	TTC	TTCGGTGGTCACTGGCTC	3: 95,795,456 (GRCm39)		probably benign	Het
BC028528	GGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACT	GGTTCTGTGGTCACTTGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACT	3: 95,795,454 (GRCm39)		probably benign	Het
BC028528	CTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCA	CTGGTTCTGTGGTCAATGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCA	3: 95,795,452 (GRCm39)		probably benign	Het
BC028528	CACTG	CACTGATTCTGTGGTGACTG	3: 95,795,450 (GRCm39)		probably benign	Het
Bcas3	G	A	11: 85,261,954 (GRCm39)	G96S	probably damaging	Het
Bltp1	C	T	3: 37,061,218 (GRCm39)	A3309V	probably damaging	Het
C2cd4d	T	A	3: 94,270,860 (GRCm39)	V42D	probably damaging	Het
Ccdc127	T	C	13: 74,505,151 (GRCm39)	L233P	probably damaging	Het
Cdc42bpa	A	G	1: 179,921,578 (GRCm39)	K573E	probably damaging	Het
Cend1	T	C	7: 141,007,544 (GRCm39)	D92G	probably damaging	Het
Crb1	T	C	1: 139,170,909 (GRCm39)	D827G	probably damaging	Het
Cyld	G	T	8: 89,461,525 (GRCm39)	C654F	probably damaging	Het
Fastkd5	C	T	2: 130,458,557 (GRCm39)	G11D	probably damaging	Het
Foxj3	A	T	4: 119,477,252 (GRCm39)	N354I	possibly damaging	Het
Gimap8	G	T	6: 48,627,999 (GRCm39)	C252F	probably benign	Het
Glra1	T	C	11: 55,411,821 (GRCm39)	Y329C	probably damaging	Het
Gm10330	G	A	12: 23,829,980 (GRCm39)	P67L	probably benign	Het
Gpm6a	T	C	8: 55,508,469 (GRCm39)	I226T	possibly damaging	Het
Gstt2	A	G	10: 75,668,418 (GRCm39)	F121S	probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Hmcn2	T	C	2: 31,310,311 (GRCm39)	F3302L	probably benign	Het
Hormad2	T	C	11: 4,358,841 (GRCm39)	T189A	probably damaging	Het
Hps5	A	T	7: 46,418,826 (GRCm39)	S815T	probably benign	Het
Hydin	G	T	8: 111,282,239 (GRCm39)	R3113L	possibly damaging	Het
Inava	A	G	1: 136,155,279 (GRCm39)	S109P	probably benign	Het
Inpp5f	T	A	7: 128,294,037 (GRCm39)	C698S	probably benign	Het
Irs1	T	G	1: 82,267,605 (GRCm39)	M204L	probably benign	Het
Itfg1	T	C	8: 86,490,909 (GRCm39)	D340G	probably damaging	Het
Itm2c	T	A	1: 85,833,032 (GRCm39)	I122N	probably damaging	Het
Lamp3	T	A	16: 19,474,247 (GRCm39)	T376S	probably damaging	Het
Lrba	T	A	3: 86,622,872 (GRCm39)	I2418N	probably damaging	Het
Lrcol1	T	A	5: 110,502,715 (GRCm39)	V161D	probably damaging	Het
Lrp2	T	A	2: 69,259,016 (GRCm39)	Q4558L	probably benign	Het
Lrrfip2	A	T	9: 111,034,836 (GRCm39)	Q175L	probably damaging	Het
Mib1	T	G	18: 10,778,187 (GRCm39)	S572R	probably damaging	Het
Mis18bp1	A	T	12: 65,199,532 (GRCm39)	D456E	possibly damaging	Het
Mlh1	T	A	9: 111,090,581 (GRCm39)	T116S	possibly damaging	Het
Mpp4	T	C	1: 59,160,521 (GRCm39)	N594S	probably damaging	Het
Nbas	A	G	12: 13,455,458 (GRCm39)	E1224G	possibly damaging	Het
Neb	T	C	2: 52,110,997 (GRCm39)	D163G	possibly damaging	Het
Nectin4	T	C	1: 171,207,941 (GRCm39)	V111A	possibly damaging	Het
Nfatc2ip	G	A	7: 125,989,617 (GRCm39)	R256*	probably null	Het
Nlgn2	G	A	11: 69,716,760 (GRCm39)	R594C	probably damaging	Het
Nufip1	A	G	14: 76,352,442 (GRCm39)	S198G	possibly damaging	Het
Or2n1	T	C	17: 38,486,158 (GRCm39)	F61S	probably damaging	Het
Or5ac23	C	T	16: 59,149,606 (GRCm39)	D89N	possibly damaging	Het
Or8b49	T	C	9: 38,506,446 (GRCm39)	F310L	probably benign	Het
Or8s8	C	T	15: 98,354,574 (GRCm39)	H128Y	probably benign	Het
Pcdhga8	G	A	18: 37,859,896 (GRCm39)	M317I	probably benign	Het
Phactr1	A	T	13: 42,863,239 (GRCm39)	I55L	probably benign	Het
Prl3c1	G	A	13: 27,383,367 (GRCm39)	R31Q	probably benign	Het
Prss55	A	T	14: 64,319,180 (GRCm39)	F59Y	possibly damaging	Het
Ptprb	T	C	10: 116,158,392 (GRCm39)	W488R	probably damaging	Het
Qrich2	GAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGTCCCAGGCTGCAACAAACCAGGCTGATC	GAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGTCCCAGGCTGCAACAAACCAGGCTGATC	11: 116,346,608 (GRCm39)		probably benign	Het
Ros1	G	T	10: 52,044,791 (GRCm39)	T172K	probably damaging	Het
Rtel1	C	T	2: 180,997,869 (GRCm39)	R1206W	possibly damaging	Het
Slf2	A	T	19: 44,930,682 (GRCm39)	K586N	probably damaging	Het
Smc2	T	A	4: 52,450,854 (GRCm39)	M224K	probably benign	Het
Spata31d1e	A	T	13: 59,890,329 (GRCm39)	I497K	probably damaging	Het
Spinkl	T	C	18: 44,299,716 (GRCm39)	Y83C	probably damaging	Het
Srgap1	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	10: 121,689,458 (GRCm39)		probably benign	Het
St13	T	C	15: 81,283,719 (GRCm39)	E26G	possibly damaging	Het
Teddm3	T	A	16: 20,971,699 (GRCm39)	Q290L	probably benign	Het
Tfec	C	A	6: 16,840,467 (GRCm39)		probably null	Het
Trank1	C	A	9: 111,220,596 (GRCm39)	D2444E	probably benign	Het
Ttn	T	C	2: 76,560,130 (GRCm39)	T29424A	possibly damaging	Het
Tut7	C	A	13: 59,946,819 (GRCm39)	Q1003H	probably damaging	Het
Vmn1r68	G	A	7: 10,261,237 (GRCm39)	T287I	probably benign	Het
Vmn2r52	C	A	7: 9,896,877 (GRCm39)	V532L	probably benign	Het
Vmn2r92	A	T	17: 18,404,970 (GRCm39)	T705S	possibly damaging	Het
Vps13d	T	C	4: 144,899,697 (GRCm39)	D200G		Het
Wdr48	G	A	9: 119,733,405 (GRCm39)	C84Y	probably damaging	Het
Zscan25	T	A	5: 145,227,321 (GRCm39)	H328Q	probably benign	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
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
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'- CAGCTAATTGGTTTGCAAGCTTTC -3'
(R):5'- TGGTAGTTGAAAAGCAGCTTG -3'

Sequencing Primer
(F):5'- CCCATCGGTGATGAAACATTG -3'
(R):5'- AAGCAGCTTGTCGGAAGTTC -3'

Posted On

2019-12-20