Mutagenetix > Incidental Mutations

Incidental Mutation 'R4819:Ttc17'

370035

Institutional Source

Beutler Lab

Gene Symbol

Ttc17

Ensembl Gene

ENSMUSG00000027194

Gene Name

tetratricopeptide repeat domain 17

Synonyms

D2Bwg1005e, 9130020K17Rik

MMRRC Submission

042000-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.761) question?

Stock #

R4819 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94300767-94406689 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 94364610 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 520 (P520L)

Ref Sequence

ENSEMBL: ENSMUSP00000106869 (fasta)

Gene Model

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

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: P520L

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

SMART Domains

Protein: ENSMUSP00000092395
Gene: ENSMUSG00000027194
AA Change: P520L

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: P520L

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

SMART Domains

Protein: ENSMUSP00000106868
Gene: ENSMUSG00000027194
AA Change: P520L

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: P520L

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

SMART Domains

Protein: ENSMUSP00000106869
Gene: ENSMUSG00000027194
AA Change: P520L

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

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,290,421	N761K	possibly damaging	Het
Adgrf3	T	A	5: 30,198,444	L444F	possibly damaging	Het
Akap8	G	A	17: 32,312,305	R378W	probably damaging	Het
Amotl2	C	T	9: 102,730,071	R693W	probably damaging	Het
As3mt	G	T	19: 46,707,529		probably benign	Het
Atp6v1e2	A	G	17: 86,944,538	V144A	probably benign	Het
Bfar	C	T	16: 13,687,467	Q114*	probably null	Het
Casd1	C	T	6: 4,621,225	A261V	probably damaging	Het
Ccdc36	A	G	9: 108,406,678	V189A	probably benign	Het
Cd177	A	T	7: 24,752,271	I440K	probably damaging	Het
Cfap54	G	T	10: 92,836,477	Y2910*	probably null	Het
Csl	A	G	10: 99,758,082	F374L	possibly damaging	Het
Dctn1	G	A	6: 83,190,519	R275H	probably damaging	Het
Derl3	A	G	10: 75,893,879		probably null	Het
Dst	A	G	1: 33,968,835	I117V	probably benign	Het
Edc3	T	A	9: 57,748,397	C477S	possibly damaging	Het
Efs	T	C	14: 54,917,153	E450G	probably damaging	Het
Fcrla	T	A	1: 170,920,939	I212F	probably damaging	Het
Fsip2	A	G	2: 82,988,442	I4840V	probably benign	Het
Gm14025	G	T	2: 129,040,801	N98K	probably damaging	Het
Gpam	T	A	19: 55,078,341	I581F	probably benign	Het
Greb1l	A	G	18: 10,458,358	D45G	probably damaging	Het
Heca	A	G	10: 17,908,072	Y478H	probably damaging	Het
Hspa9	C	T	18: 34,939,388	M561I	probably damaging	Het
Hyal6	T	A	6: 24,734,966	Y299*	probably null	Het
Ik	T	A	18: 36,753,257		probably null	Het
Khsrp	A	G	17: 57,023,360	S582P	possibly damaging	Het
Kif18a	A	G	2: 109,292,126	D182G	probably damaging	Het
Krt2	T	C	15: 101,811,544	T564A	unknown	Het
Lig4	A	G	8: 9,971,885	S632P	probably benign	Het
Med1	C	T	11: 98,155,432		probably benign	Het
Mgat3	T	A	15: 80,212,349	I459N	probably damaging	Het
Mkln1	A	T	6: 31,474,486	Q454L	probably benign	Het
Mn1	A	G	5: 111,419,937	E591G	possibly damaging	Het
Myo5c	T	A	9: 75,292,202	L1364Q	probably damaging	Het
Oas1d	T	C	5: 120,915,717	V80A	probably damaging	Het
Obscn	A	T	11: 59,038,848	D5180E	probably damaging	Het
Pax6	G	A	2: 105,692,277		probably null	Het
Pcdh15	A	C	10: 74,324,389	N446T	probably damaging	Het
Pcnx2	A	T	8: 125,855,230	F922L	probably benign	Het
Ptpn4	G	T	1: 119,659,850	T921K	probably benign	Het
Selenov	A	G	7: 28,290,321		probably null	Het
Tmem100	A	G	11: 90,035,445	T33A	probably benign	Het
Tmem59	C	T	4: 107,187,681	Q66*	probably null	Het
Trav21-dv12	T	A	14: 53,876,613	Y63*	probably null	Het
Trim66	G	T	7: 109,457,586	H1121Q	probably damaging	Het
Trim80	A	G	11: 115,447,943	Y533C	probably damaging	Het
Ttn	A	T	2: 76,791,749	V15483E	probably damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 105,483,744		probably null	Het
Zfhx4	C	A	3: 5,403,914	T3069K	probably benign	Het
Zfp281	A	G	1: 136,625,710	H142R	probably benign	Het
Zfp462	G	T	4: 55,060,044	R1190L	probably damaging	Het
Zfp935	T	A	13: 62,454,417	H323L	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	possibly damaging	0.82
R1981:Ttc17	UTSW	2	94326704	missense	possibly damaging	0.82
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
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
R6748:Ttc17	UTSW	2	94386102	missense	probably benign	0.02
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
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'- TTCGTGGATCCTGGCACAAG -3'
(R):5'- TCAGTGCTCTTAACCTCGCAG -3'

Sequencing Primer
(F):5'- CGTGGATCCTGGCACAAGAAAAAG -3'
(R):5'- TTAACCTCGCAGCCGTCAC -3'

Posted On

2016-02-04