Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02830:Ttc28'

361393

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttc28

Ensembl Gene

ENSMUSG00000033209

Gene Name

tetratricopeptide repeat domain 28

Synonyms

TPRBK, 2310015L07Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02830

Quality Score

Status

Chromosome

Chromosomal Location

111027669-111437646 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111434105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 2380 (T2380S)

Ref Sequence

ENSEMBL: ENSMUSP00000136116 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040111] [ENSMUST00000156290]

AlphaFold

Q80XJ3

Predicted Effect

probably benign
Transcript: ENSMUST00000040111
AA Change: T2380S

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000136116
Gene: ENSMUSG00000033209
AA Change: T2380S

Domain	Start	End	E-Value	Type
low complexity region	4	28	N/A	INTRINSIC
TPR	52	85	2.84e1	SMART
TPR	86	119	5.03e-1	SMART
TPR	120	153	2.11e-3	SMART
TPR	268	301	8.51e0	SMART
TPR	339	372	1.78e-1	SMART
TPR	379	412	2.82e-4	SMART
TPR	419	452	9.98e-5	SMART
TPR	459	492	1.88e0	SMART
TPR	499	532	1.11e1	SMART
TPR	539	572	2.93e-2	SMART
TPR	579	612	1.21e-3	SMART
TPR	619	652	4.91e-4	SMART
TPR	659	692	7.56e-5	SMART
TPR	699	732	8.29e0	SMART
TPR	739	772	1.63e0	SMART
TPR	779	812	1.24e0	SMART
TPR	819	852	7.98e-4	SMART
TPR	859	892	8.74e0	SMART
TPR	902	935	5.43e-6	SMART
TPR	942	975	4.09e-1	SMART
TPR	982	1015	9.98e-5	SMART
TPR	1022	1055	7.12e-1	SMART
TPR	1062	1095	5.69e0	SMART
TPR	1102	1135	3.14e-2	SMART
TPR	1142	1175	2.84e1	SMART
low complexity region	1259	1277	N/A	INTRINSIC
Pfam:CHAT	1415	1738	7.3e-77	PFAM
low complexity region	1972	1990	N/A	INTRINSIC
low complexity region	2014	2031	N/A	INTRINSIC
low complexity region	2033	2045	N/A	INTRINSIC
low complexity region	2155	2171	N/A	INTRINSIC
low complexity region	2283	2293	N/A	INTRINSIC
low complexity region	2327	2352	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156290
AA Change: T2349S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000137609
Gene: ENSMUSG00000033209
AA Change: T2349S

Domain	Start	End	E-Value	Type
low complexity region	4	28	N/A	INTRINSIC
TPR	52	85	2.84e1	SMART
TPR	86	119	5.03e-1	SMART
TPR	120	153	2.11e-3	SMART
TPR	268	301	8.51e0	SMART
TPR	308	341	1.78e-1	SMART
TPR	348	381	2.82e-4	SMART
TPR	388	421	9.98e-5	SMART
TPR	428	461	1.88e0	SMART
TPR	468	501	1.11e1	SMART
TPR	508	541	2.93e-2	SMART
TPR	548	581	1.21e-3	SMART
TPR	588	621	4.91e-4	SMART
TPR	628	661	7.56e-5	SMART
TPR	668	701	8.29e0	SMART
TPR	708	741	1.63e0	SMART
TPR	748	781	1.24e0	SMART
TPR	788	821	7.98e-4	SMART
TPR	828	861	8.74e0	SMART
TPR	871	904	5.43e-6	SMART
TPR	911	944	4.09e-1	SMART
TPR	951	984	9.98e-5	SMART
TPR	991	1024	7.12e-1	SMART
TPR	1031	1064	5.69e0	SMART
TPR	1071	1104	3.14e-2	SMART
TPR	1111	1144	2.84e1	SMART
low complexity region	1228	1246	N/A	INTRINSIC
Pfam:CHAT	1384	1707	1.1e-76	PFAM
low complexity region	1941	1959	N/A	INTRINSIC
low complexity region	1983	2000	N/A	INTRINSIC
low complexity region	2002	2014	N/A	INTRINSIC
low complexity region	2124	2140	N/A	INTRINSIC
low complexity region	2252	2262	N/A	INTRINSIC
low complexity region	2296	2321	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	A	17: 48,348,235 (GRCm39)	E67D	possibly damaging	Het
Acad11	T	A	9: 103,953,118 (GRCm39)	F116I	probably damaging	Het
Acox2	G	A	14: 8,255,298 (GRCm38)	T160I	probably damaging	Het
Anxa7	A	T	14: 20,506,608 (GRCm39)	M444K	possibly damaging	Het
Atg2a	A	G	19: 6,297,711 (GRCm39)	D423G	probably benign	Het
Cela3a	T	C	4: 137,128,946 (GRCm39)	N282S	probably benign	Het
Cyp2c50	G	A	19: 40,086,500 (GRCm39)	V296I	probably benign	Het
Fcgbpl1	C	A	7: 27,862,348 (GRCm39)	H2471Q	probably damaging	Het
Fgd3	A	G	13: 49,418,107 (GRCm39)		probably benign	Het
Gfus	C	T	15: 75,797,437 (GRCm39)	V275I	probably benign	Het
Gimap8	G	A	6: 48,633,239 (GRCm39)	A353T	probably benign	Het
Grin3a	T	A	4: 49,702,787 (GRCm39)	M900L	possibly damaging	Het
H1f0	T	G	15: 78,913,511 (GRCm39)		probably benign	Het
Heatr1	T	C	13: 12,441,093 (GRCm39)	V1456A	possibly damaging	Het
Hsd17b7	C	T	1: 169,780,649 (GRCm39)	E320K	probably damaging	Het
Kbtbd3	T	A	9: 4,330,096 (GRCm39)	S157T	possibly damaging	Het
Kif19a	C	T	11: 114,672,034 (GRCm39)	T207M	probably damaging	Het
Klc1	T	C	12: 111,743,341 (GRCm39)	Y223H	probably damaging	Het
Klhl33	C	T	14: 51,129,214 (GRCm39)	V672M	probably damaging	Het
Lrrc49	G	A	9: 60,592,393 (GRCm39)	L34F	probably damaging	Het
Nalcn	C	T	14: 123,530,881 (GRCm39)	V1386I	probably damaging	Het
Or14c39	T	G	7: 86,344,382 (GRCm39)	C239W	probably damaging	Het
Or4b13	A	T	2: 90,083,125 (GRCm39)	I69N	probably damaging	Het
Or51b6	C	T	7: 103,555,651 (GRCm39)	P2S	probably benign	Het
Or5ac19	A	G	16: 59,089,416 (GRCm39)	S205P	possibly damaging	Het
Orc5	A	T	5: 22,734,265 (GRCm39)	L173Q	probably damaging	Het
Otud4	T	G	8: 80,399,930 (GRCm39)	D880E	probably benign	Het
Pde12	T	C	14: 26,389,740 (GRCm39)	Y323C	probably damaging	Het
Pde8b	G	T	13: 95,189,409 (GRCm39)	D198E	probably benign	Het
Prom2	T	A	2: 127,376,989 (GRCm39)	I542F	possibly damaging	Het
Ptprj	G	A	2: 90,283,488 (GRCm39)	T952I	probably benign	Het
Ribc2	T	A	15: 85,016,458 (GRCm39)		probably benign	Het
Sec31b	C	T	19: 44,520,142 (GRCm39)	R214K	probably damaging	Het
Senp5	G	A	16: 31,802,303 (GRCm39)		probably benign	Het
Sh3pxd2a	G	A	19: 47,271,517 (GRCm39)	R249W	probably damaging	Het
Sorcs3	G	A	19: 48,711,441 (GRCm39)		probably null	Het
Spata31d1c	A	G	13: 65,183,180 (GRCm39)	T241A	probably benign	Het
Tac1	G	A	6: 7,555,650 (GRCm39)	V13I	probably benign	Het
Tnnc2	T	A	2: 164,619,430 (GRCm39)	D138V	probably null	Het
Tspan32	T	A	7: 142,571,329 (GRCm39)	M159K	possibly damaging	Het
Ubc	T	A	5: 125,464,377 (GRCm39)	I317F	probably damaging	Het
Usp24	T	C	4: 106,204,584 (GRCm39)	S268P	possibly damaging	Het
Vmn2r91	C	A	17: 18,356,884 (GRCm39)	H850Q	probably benign	Het
Xrn1	T	C	9: 95,900,234 (GRCm39)		probably null	Het
Zfp329	A	C	7: 12,544,043 (GRCm39)	C494G	probably damaging	Het
Zfp54	T	C	17: 21,653,718 (GRCm39)	S71P	probably damaging	Het

Other mutations in Ttc28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Ttc28	APN	5	111,373,554 (GRCm39)	missense	probably damaging	1.00
IGL00963:Ttc28	APN	5	111,434,255 (GRCm39)	nonsense	probably null
IGL00969:Ttc28	APN	5	111,373,606 (GRCm39)	missense	probably benign	0.00
IGL01366:Ttc28	APN	5	111,233,037 (GRCm39)	critical splice donor site	probably null
IGL01528:Ttc28	APN	5	111,249,826 (GRCm39)	splice site	probably benign
IGL01558:Ttc28	APN	5	111,431,828 (GRCm39)	missense	probably damaging	0.99
IGL01973:Ttc28	APN	5	111,372,101 (GRCm39)	missense	possibly damaging	0.88
IGL02040:Ttc28	APN	5	111,040,802 (GRCm39)	nonsense	probably null
IGL02432:Ttc28	APN	5	111,371,101 (GRCm39)	missense	probably damaging	1.00
IGL02531:Ttc28	APN	5	111,373,716 (GRCm39)	missense	probably damaging	1.00
IGL02819:Ttc28	APN	5	111,414,449 (GRCm39)	missense	probably benign
IGL02893:Ttc28	APN	5	111,433,251 (GRCm39)	missense	possibly damaging	0.87
IGL03387:Ttc28	APN	5	111,381,208 (GRCm39)	missense	probably benign	0.07
PIT4131001:Ttc28	UTSW	5	111,040,719 (GRCm39)	missense	probably benign	0.00
R0142:Ttc28	UTSW	5	111,425,323 (GRCm39)	missense	probably benign	0.40
R0166:Ttc28	UTSW	5	111,373,500 (GRCm39)	missense	probably benign	0.01
R0328:Ttc28	UTSW	5	111,431,933 (GRCm39)	splice site	probably benign
R0582:Ttc28	UTSW	5	111,331,162 (GRCm39)	missense	probably damaging	1.00
R0744:Ttc28	UTSW	5	111,378,947 (GRCm39)	missense	probably damaging	1.00
R0811:Ttc28	UTSW	5	111,383,366 (GRCm39)	missense	probably benign	0.24
R0812:Ttc28	UTSW	5	111,383,366 (GRCm39)	missense	probably benign	0.24
R0828:Ttc28	UTSW	5	111,371,312 (GRCm39)	missense	probably damaging	1.00
R0833:Ttc28	UTSW	5	111,378,947 (GRCm39)	missense	probably damaging	1.00
R1013:Ttc28	UTSW	5	111,424,831 (GRCm39)	missense	probably benign	0.01
R1168:Ttc28	UTSW	5	111,378,977 (GRCm39)	missense	probably damaging	1.00
R1194:Ttc28	UTSW	5	111,373,543 (GRCm39)	missense	probably damaging	1.00
R1195:Ttc28	UTSW	5	111,373,543 (GRCm39)	missense	probably damaging	1.00
R1195:Ttc28	UTSW	5	111,373,543 (GRCm39)	missense	probably damaging	1.00
R1195:Ttc28	UTSW	5	111,373,543 (GRCm39)	missense	probably damaging	1.00
R1196:Ttc28	UTSW	5	111,373,543 (GRCm39)	missense	probably damaging	1.00
R1205:Ttc28	UTSW	5	111,433,635 (GRCm39)	missense	probably benign	0.04
R1386:Ttc28	UTSW	5	111,373,543 (GRCm39)	missense	probably damaging	1.00
R1467:Ttc28	UTSW	5	111,433,254 (GRCm39)	missense	probably benign	0.00
R1467:Ttc28	UTSW	5	111,433,254 (GRCm39)	missense	probably benign	0.00
R1537:Ttc28	UTSW	5	111,433,184 (GRCm39)	missense	probably damaging	0.96
R1539:Ttc28	UTSW	5	111,248,677 (GRCm39)	missense	possibly damaging	0.77
R1558:Ttc28	UTSW	5	111,373,543 (GRCm39)	missense	probably damaging	1.00
R1560:Ttc28	UTSW	5	111,373,543 (GRCm39)	missense	probably damaging	1.00
R1561:Ttc28	UTSW	5	111,373,543 (GRCm39)	missense	probably damaging	1.00
R1566:Ttc28	UTSW	5	111,373,543 (GRCm39)	missense	probably damaging	1.00
R1768:Ttc28	UTSW	5	111,425,034 (GRCm39)	missense	possibly damaging	0.77
R1775:Ttc28	UTSW	5	111,424,677 (GRCm39)	missense	probably benign	0.00
R1909:Ttc28	UTSW	5	111,431,920 (GRCm39)	critical splice donor site	probably null
R1911:Ttc28	UTSW	5	111,428,616 (GRCm39)	missense	possibly damaging	0.93
R1970:Ttc28	UTSW	5	111,383,501 (GRCm39)	missense	probably benign	0.00
R1990:Ttc28	UTSW	5	111,424,188 (GRCm39)	missense	probably benign	0.37
R1992:Ttc28	UTSW	5	111,424,188 (GRCm39)	missense	probably benign	0.37
R2066:Ttc28	UTSW	5	111,373,799 (GRCm39)	missense	probably benign	0.01
R2112:Ttc28	UTSW	5	111,424,139 (GRCm39)	missense	probably damaging	0.99
R2158:Ttc28	UTSW	5	111,325,483 (GRCm39)	intron	probably benign
R2192:Ttc28	UTSW	5	111,371,362 (GRCm39)	missense	probably damaging	0.99
R2267:Ttc28	UTSW	5	111,373,869 (GRCm39)	missense	possibly damaging	0.75
R2384:Ttc28	UTSW	5	111,424,074 (GRCm39)	missense	possibly damaging	0.95
R2989:Ttc28	UTSW	5	111,371,881 (GRCm39)	missense	probably benign	0.29
R3881:Ttc28	UTSW	5	111,331,106 (GRCm39)	missense	probably damaging	1.00
R3919:Ttc28	UTSW	5	111,433,245 (GRCm39)	missense	possibly damaging	0.80
R4455:Ttc28	UTSW	5	111,371,924 (GRCm39)	frame shift	probably null
R4456:Ttc28	UTSW	5	111,371,924 (GRCm39)	frame shift	probably null
R4522:Ttc28	UTSW	5	111,428,038 (GRCm39)	missense	probably benign	0.01
R4548:Ttc28	UTSW	5	111,419,090 (GRCm39)	missense	possibly damaging	0.86
R4591:Ttc28	UTSW	5	111,371,147 (GRCm39)	missense	probably damaging	1.00
R4633:Ttc28	UTSW	5	111,371,867 (GRCm39)	missense	probably damaging	1.00
R4700:Ttc28	UTSW	5	111,424,909 (GRCm39)	missense	probably damaging	1.00
R4714:Ttc28	UTSW	5	111,433,095 (GRCm39)	missense	possibly damaging	0.65
R4790:Ttc28	UTSW	5	111,372,083 (GRCm39)	missense	possibly damaging	0.94
R4803:Ttc28	UTSW	5	111,425,329 (GRCm39)	missense	possibly damaging	0.90
R4840:Ttc28	UTSW	5	111,433,947 (GRCm39)	missense	probably damaging	1.00
R4969:Ttc28	UTSW	5	111,424,121 (GRCm39)	missense	probably damaging	0.96
R5019:Ttc28	UTSW	5	111,249,930 (GRCm39)	missense	possibly damaging	0.47
R5130:Ttc28	UTSW	5	111,040,722 (GRCm39)	missense	probably benign
R5150:Ttc28	UTSW	5	111,373,555 (GRCm39)	missense	probably damaging	1.00
R5214:Ttc28	UTSW	5	111,325,489 (GRCm39)	intron	probably benign
R5254:Ttc28	UTSW	5	111,419,104 (GRCm39)	missense	probably benign	0.01
R5518:Ttc28	UTSW	5	111,373,794 (GRCm39)	missense	probably benign	0.17
R5851:Ttc28	UTSW	5	111,383,335 (GRCm39)	splice site	probably benign
R5931:Ttc28	UTSW	5	111,232,975 (GRCm39)	missense	possibly damaging	0.81
R6011:Ttc28	UTSW	5	111,434,309 (GRCm39)	missense	probably benign
R6176:Ttc28	UTSW	5	111,371,851 (GRCm39)	missense	probably damaging	1.00
R6221:Ttc28	UTSW	5	111,419,114 (GRCm39)	missense	probably benign	0.00
R6398:Ttc28	UTSW	5	111,424,142 (GRCm39)	missense	probably damaging	1.00
R6717:Ttc28	UTSW	5	111,433,302 (GRCm39)	missense	probably benign
R6770:Ttc28	UTSW	5	111,434,006 (GRCm39)	missense	probably damaging	1.00
R6901:Ttc28	UTSW	5	111,424,891 (GRCm39)	missense	possibly damaging	0.88
R7038:Ttc28	UTSW	5	111,414,445 (GRCm39)	missense	probably benign	0.09
R7073:Ttc28	UTSW	5	111,371,282 (GRCm39)	missense	possibly damaging	0.96
R7101:Ttc28	UTSW	5	111,232,958 (GRCm39)	missense	probably damaging	1.00
R7135:Ttc28	UTSW	5	111,427,873 (GRCm39)	missense	probably damaging	1.00
R7350:Ttc28	UTSW	5	111,373,903 (GRCm39)	missense	probably damaging	0.97
R7454:Ttc28	UTSW	5	111,433,350 (GRCm39)	missense	probably benign	0.19
R7461:Ttc28	UTSW	5	111,371,995 (GRCm39)	missense	probably damaging	1.00
R7596:Ttc28	UTSW	5	111,427,990 (GRCm39)	missense	probably damaging	1.00
R7613:Ttc28	UTSW	5	111,371,995 (GRCm39)	missense	probably damaging	1.00
R7625:Ttc28	UTSW	5	111,433,085 (GRCm39)	missense	possibly damaging	0.65
R7648:Ttc28	UTSW	5	111,331,258 (GRCm39)	missense	possibly damaging	0.52
R7735:Ttc28	UTSW	5	111,414,544 (GRCm39)	splice site	probably null
R8030:Ttc28	UTSW	5	111,433,922 (GRCm39)	missense	possibly damaging	0.81
R8205:Ttc28	UTSW	5	111,373,596 (GRCm39)	missense	possibly damaging	0.95
R8246:Ttc28	UTSW	5	111,381,207 (GRCm39)	missense	probably benign	0.33
R8247:Ttc28	UTSW	5	111,381,207 (GRCm39)	missense	probably benign	0.33
R8269:Ttc28	UTSW	5	111,425,325 (GRCm39)	missense	probably benign	0.09
R8292:Ttc28	UTSW	5	111,371,123 (GRCm39)	missense	probably damaging	1.00
R8346:Ttc28	UTSW	5	111,381,207 (GRCm39)	missense	probably benign	0.33
R8356:Ttc28	UTSW	5	111,381,207 (GRCm39)	missense	probably benign	0.33
R8423:Ttc28	UTSW	5	111,381,207 (GRCm39)	missense	probably benign	0.33
R8424:Ttc28	UTSW	5	111,381,207 (GRCm39)	missense	probably benign	0.33
R8426:Ttc28	UTSW	5	111,381,207 (GRCm39)	missense	probably benign	0.33
R8441:Ttc28	UTSW	5	111,325,507 (GRCm39)	nonsense	probably null
R8494:Ttc28	UTSW	5	111,383,506 (GRCm39)	missense	probably damaging	0.96
R8508:Ttc28	UTSW	5	111,381,207 (GRCm39)	missense	probably benign	0.33
R8510:Ttc28	UTSW	5	111,381,207 (GRCm39)	missense	probably benign	0.33
R8729:Ttc28	UTSW	5	111,383,509 (GRCm39)	critical splice donor site	probably null
R8845:Ttc28	UTSW	5	111,372,041 (GRCm39)	missense	probably benign	0.11
R9003:Ttc28	UTSW	5	111,424,896 (GRCm39)	missense	probably benign	0.00
R9185:Ttc28	UTSW	5	111,371,342 (GRCm39)	missense	probably benign	0.03
R9187:Ttc28	UTSW	5	111,249,902 (GRCm39)	missense	probably damaging	1.00
R9245:Ttc28	UTSW	5	111,325,525 (GRCm39)	missense	unknown
R9251:Ttc28	UTSW	5	111,040,698 (GRCm39)	missense	possibly damaging	0.47
R9372:Ttc28	UTSW	5	111,331,073 (GRCm39)	missense	probably benign	0.25
R9466:Ttc28	UTSW	5	111,330,895 (GRCm39)	missense	probably damaging	0.99
R9563:Ttc28	UTSW	5	111,371,092 (GRCm39)	missense	probably benign	0.22
R9606:Ttc28	UTSW	5	111,433,140 (GRCm39)	missense	probably benign	0.00
R9691:Ttc28	UTSW	5	111,431,879 (GRCm39)	missense	probably benign	0.01
R9709:Ttc28	UTSW	5	111,433,637 (GRCm39)	missense	probably damaging	0.97
V8831:Ttc28	UTSW	5	111,248,578 (GRCm39)	missense	probably benign	0.11
Z1088:Ttc28	UTSW	5	111,434,181 (GRCm39)	missense	probably benign	0.00
Z1176:Ttc28	UTSW	5	111,414,432 (GRCm39)	missense	possibly damaging	0.59
Z1177:Ttc28	UTSW	5	111,433,605 (GRCm39)	missense	probably benign	0.10
Z1177:Ttc28	UTSW	5	111,426,452 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18