Mutagenetix > Incidental Mutation

Incidental Mutation 'R1205:Ttc28'

100400

Institutional Source

Beutler Lab

Gene Symbol

Ttc28

Ensembl Gene

ENSMUSG00000033209

Gene Name

tetratricopeptide repeat domain 28

Synonyms

TPRBK, 2310015L07Rik

MMRRC Submission

039275-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1205 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111027669-111437646 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 111433635 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 2192 (P2192L)

Ref Sequence

ENSEMBL: ENSMUSP00000137609 (fasta)

Gene Model

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

AlphaFold

Q80XJ3

Predicted Effect

probably benign
Transcript: ENSMUST00000040111
AA Change: P2223L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000136116
Gene: ENSMUSG00000033209
AA Change: P2223L

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: P2192L

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000137609
Gene: ENSMUSG00000033209
AA Change: P2192L

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

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	T	A	10: 14,310,083 (GRCm39)	N774I	probably damaging	Het
Bpifc	T	A	10: 85,817,168 (GRCm39)	D230V	probably damaging	Het
Chrna2	C	T	14: 66,380,812 (GRCm39)	A27V	probably benign	Het
Duox1	C	T	2: 122,158,406 (GRCm39)	Q630*	probably null	Het
Dzip3	C	T	16: 48,772,044 (GRCm39)	G542R	probably damaging	Het
Epha3	ATGAACTGCT	AT	16: 63,418,611 (GRCm39)		probably null	Het
Fnip1	G	T	11: 54,393,132 (GRCm39)	V523L	possibly damaging	Het
Hc	T	A	2: 34,893,536 (GRCm39)	D1225V	possibly damaging	Het
Hnrnpu	C	T	1: 178,159,734 (GRCm39)		probably benign	Het
Ift172	C	T	5: 31,443,136 (GRCm39)	V125I	probably benign	Het
Kcnip2	T	A	19: 45,783,422 (GRCm39)	Q93L	probably null	Het
Kif27	A	T	13: 58,492,019 (GRCm39)	H373Q	probably benign	Het
Kl	T	C	5: 150,904,153 (GRCm39)	S302P	probably damaging	Het
Lyst	G	A	13: 13,854,787 (GRCm39)	V2386I	probably benign	Het
Map4k4	G	A	1: 40,043,004 (GRCm39)	A128T	probably damaging	Het
Marchf6	A	C	15: 31,469,819 (GRCm39)	M717R	probably benign	Het
Morc2b	A	G	17: 33,354,908 (GRCm39)	Y955H	probably damaging	Het
Myo7b	A	G	18: 32,127,395 (GRCm39)	S636P	probably damaging	Het
Neb	T	A	2: 52,112,996 (GRCm39)	D4266V	probably damaging	Het
Nynrin	G	A	14: 56,091,646 (GRCm39)		probably benign	Het
Or1j18	G	A	2: 36,624,767 (GRCm39)	V145I	probably benign	Het
Or4c107	A	T	2: 88,788,932 (GRCm39)	I41L	probably benign	Het
Or5b104	T	C	19: 13,072,899 (GRCm39)	I38V	probably benign	Het
Pcdh9	A	G	14: 94,123,501 (GRCm39)	S890P	probably benign	Het
Pcnx1	G	T	12: 82,003,017 (GRCm39)	D1052Y	probably damaging	Het
Pibf1	G	A	14: 99,338,639 (GRCm39)	E52K	probably damaging	Het
Siglec1	T	G	2: 130,922,384 (GRCm39)	S564R	possibly damaging	Het
Sin3a	T	A	9: 57,026,459 (GRCm39)	V1125E	probably damaging	Het
Slco4c1	G	T	1: 96,795,613 (GRCm39)	D148E	probably damaging	Het
Spag6l	A	T	16: 16,605,171 (GRCm39)	L127Q	probably damaging	Het
Syne4	C	A	7: 30,014,761 (GRCm39)	T68N	probably damaging	Het
Tas2r134	A	G	2: 51,517,998 (GRCm39)	Y159C	probably benign	Het
Tasor	A	T	14: 27,183,275 (GRCm39)	D578V	probably damaging	Het
Thoc2l	T	C	5: 104,668,079 (GRCm39)	L867S	probably benign	Het
Tmem132a	C	A	19: 10,836,448 (GRCm39)	R694L	probably benign	Het
Ttc34	T	G	4: 154,946,671 (GRCm39)	V857G	probably benign	Het
Ugt1a7c	A	T	1: 88,023,678 (GRCm39)	H279L	probably benign	Het
Vmn1r32	G	A	6: 66,530,539 (GRCm39)	T79I	probably benign	Het
Vps13a	A	T	19: 16,617,905 (GRCm39)	V2960D	probably damaging	Het
Wee2	G	T	6: 40,420,875 (GRCm39)		probably benign	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
IGL02830:Ttc28	APN	5	111,434,105 (GRCm39)	missense	probably benign	0.10
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
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

Predicted Primers

PCR Primer
(F):5'- ACAGCACTGTGAAGTCCCAAGAGG -3'
(R):5'- CAAGTTCAGCAGGCTGAGGACATC -3'

Sequencing Primer
(F):5'- GTCCCAAGAGGAGAGCACC -3'
(R):5'- TTCTCATCCGGGGCATCAG -3'

Posted On

2014-01-15