Mutagenetix > Incidental Mutation

Incidental Mutation 'R4456:Ttc28'

329185

Institutional Source

Beutler Lab

Gene Symbol

Ttc28

Ensembl Gene

ENSMUSG00000033209

Gene Name

tetratricopeptide repeat domain 28

Synonyms

TPRBK, 2310015L07Rik

MMRRC Submission

041716-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4456 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

111027669-111437646 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

AC to A at 111371924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137609 (fasta)

Gene Model

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

AlphaFold

Q80XJ3

Predicted Effect

probably null
Transcript: ENSMUST00000040111

SMART Domains

Protein: ENSMUSP00000136116
Gene: ENSMUSG00000033209

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

noncoding transcript
Transcript: ENSMUST00000125470

Predicted Effect

probably null
Transcript: ENSMUST00000156290

SMART Domains

Protein: ENSMUSP00000137609
Gene: ENSMUSG00000033209

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

93% (42/45)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,833,071 (GRCm39)	F1210L	probably benign	Het
Amfr	C	T	8: 94,711,568 (GRCm39)	A323T	possibly damaging	Het
Apob	T	A	12: 8,065,445 (GRCm39)	I4105N	probably damaging	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Cdc42ep1	A	G	15: 78,734,091 (GRCm39)	E397G	possibly damaging	Het
Cdkn2d	C	G	9: 21,202,185 (GRCm39)	V21L	probably benign	Het
Dnmt1	T	C	9: 20,821,138 (GRCm39)	T1250A	probably damaging	Het
Dst	A	T	1: 34,229,800 (GRCm39)	K2642N	probably benign	Het
Emcn	A	T	3: 137,085,608 (GRCm39)	K69*	probably null	Het
Eya1	C	T	1: 14,253,420 (GRCm39)	V519M	probably damaging	Het
Fbxo38	G	T	18: 62,659,320 (GRCm39)	R326S	probably damaging	Het
Fcer1g	A	G	1: 171,061,808 (GRCm39)	S3P	probably benign	Het
Glp1r	G	T	17: 31,137,949 (GRCm39)	E127*	probably null	Het
Gnmt	G	T	17: 47,039,910 (GRCm39)	H56Q	probably benign	Het
Hectd4	C	T	5: 121,446,334 (GRCm39)	T1513I	possibly damaging	Het
Hsd3b1	G	A	3: 98,763,459 (GRCm39)	T48I	probably benign	Het
Kmt2c	A	T	5: 25,515,210 (GRCm39)	C2878S	probably benign	Het
Loxhd1	A	G	18: 77,486,785 (GRCm39)	Y1290C	probably damaging	Het
Mkln1	A	G	6: 31,403,707 (GRCm39)	Y76C	probably damaging	Het
Mri1	C	A	8: 84,983,035 (GRCm39)	A129S	probably benign	Het
Mroh2b	A	T	15: 4,977,407 (GRCm39)	H1253L	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mthfsd	C	T	8: 121,832,504 (GRCm39)	V63I	possibly damaging	Het
Naip2	T	A	13: 100,291,419 (GRCm39)	H1173L	probably benign	Het
Nbea	A	G	3: 55,551,205 (GRCm39)	V2653A	probably benign	Het
Nckap5	A	T	1: 125,842,472 (GRCm39)		probably benign	Het
Notch4	G	A	17: 34,802,807 (GRCm39)	V1378M	probably damaging	Het
Or51a42	A	G	7: 103,708,507 (GRCm39)	S101P	possibly damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rasl12	A	G	9: 65,305,866 (GRCm39)	K7R	probably null	Het
Rnf4	A	G	5: 34,508,705 (GRCm39)	Y189C	probably benign	Het
Shroom3	A	G	5: 93,088,858 (GRCm39)	H536R	probably benign	Het
Slc2a4	G	A	11: 69,834,148 (GRCm39)		probably benign	Het
Tbc1d5	A	C	17: 51,089,369 (GRCm39)	S604A	probably damaging	Het
Tcp11l1	A	T	2: 104,514,567 (GRCm39)	V400E	probably damaging	Het
Tom1l2	G	T	11: 60,243,641 (GRCm39)		probably benign	Het
Txndc15	A	G	13: 55,865,977 (GRCm39)	D147G	possibly 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
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
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
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'- GCAACAGTTGGGCTTATCTCACC -3'
(R):5'- ACAGATTCGTTCCCGCTCAG -3'

Sequencing Primer
(F):5'- GGGCTTATCTCACCATGTGAAAGAC -3'
(R):5'- AGCATGGCCAGCTGCTG -3'

Posted On

2015-07-21