Mutagenetix > Incidental Mutation

Incidental Mutation 'R5851:Ttc28'

454662

Institutional Source

Beutler Lab

Gene Symbol

Ttc28

Ensembl Gene

ENSMUSG00000033209

Gene Name

tetratricopeptide repeat domain 28

Synonyms

MMRRC Submission

044067-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5851 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110879803-111289780 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 111235469 bp (GRCm38)

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 benign
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: ENSMUST00000128584

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129017

Predicted Effect

probably benign
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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930404N11Rik	A	T	10: 81,364,877 (GRCm38)		probably null	Het
Abca2	A	G	2: 25,442,310 (GRCm38)	N1452D	possibly damaging	Het
Abhd15	T	C	11: 77,518,447 (GRCm38)	L329P	probably benign	Het
Add3	T	C	19: 53,236,774 (GRCm38)	S442P	probably damaging	Het
Arhgef18	T	C	8: 3,434,980 (GRCm38)	F228L	probably damaging	Het
Bptf	A	T	11: 107,110,862 (GRCm38)	Y475N	probably damaging	Het
C3	T	C	17: 57,211,612 (GRCm38)	N1257S	probably null	Het
Ccdc94	C	T	17: 55,967,582 (GRCm38)	S298F	probably damaging	Het
Cd163l1	C	T	7: 140,228,027 (GRCm38)	P704S	possibly damaging	Het
Cdkl1	A	T	12: 69,756,564 (GRCm38)	Y179*	probably null	Het
Ceacam1	T	C	7: 25,474,600 (GRCm38)	N210S	possibly damaging	Het
Celf3	T	A	3: 94,479,126 (GRCm38)	I7N	probably damaging	Het
Cmpk1	A	G	4: 114,986,970 (GRCm38)	V55A	possibly damaging	Het
Csrnp1	C	T	9: 119,973,078 (GRCm38)	G305D	possibly damaging	Het
Dnah3	A	G	7: 120,039,362 (GRCm38)	S1266P	possibly damaging	Het
Edc4	T	C	8: 105,890,867 (GRCm38)	L1077P	probably damaging	Het
Efcab1	T	A	16: 14,920,436 (GRCm38)	L155H	probably damaging	Het
Fam174a	G	A	1: 95,325,143 (GRCm38)	G157S	probably damaging	Het
Fubp3	T	A	2: 31,598,610 (GRCm38)	D159E	probably benign	Het
Garem2	C	T	5: 30,114,290 (GRCm38)	T250M	probably damaging	Het
H2-Eb1	C	T	17: 34,309,771 (GRCm38)	P92L	probably benign	Het
Ifnl3	G	T	7: 28,523,511 (GRCm38)	C69F	probably damaging	Het
Itga2b	C	A	11: 102,457,601 (GRCm38)		probably benign	Het
Klhl33	A	T	14: 50,892,878 (GRCm38)	D386E	probably damaging	Het
Lin9	T	A	1: 180,669,198 (GRCm38)	L351I	probably benign	Het
Lor	G	A	3: 92,080,539 (GRCm38)	A480V	unknown	Het
Msh3	G	T	13: 92,215,522 (GRCm38)	Q1041K	probably benign	Het
Myo1e	G	A	9: 70,383,804 (GRCm38)	G959E	probably benign	Het
Nfat5	G	T	8: 107,347,727 (GRCm38)	V338L	probably damaging	Het
Nrf1	A	G	6: 30,089,976 (GRCm38)	H18R	possibly damaging	Het
Nup160	A	G	2: 90,707,038 (GRCm38)	D752G	probably benign	Het
Obscn	A	T	11: 58,994,700 (GRCm38)	L2489*	probably null	Het
Olfr1184	A	G	2: 88,486,860 (GRCm38)	I43V	possibly damaging	Het
Olfr638	A	G	7: 104,003,452 (GRCm38)	E59G	probably benign	Het
Paip1	T	C	13: 119,440,765 (GRCm38)	S215P	possibly damaging	Het
Pate2	T	A	9: 35,670,501 (GRCm38)	Y26*	probably null	Het
Pcdhb10	A	G	18: 37,412,758 (GRCm38)	I296V	probably benign	Het
Pdzph1	T	G	17: 58,973,746 (GRCm38)	T514P	probably benign	Het
Pnlip	G	A	19: 58,673,792 (GRCm38)	W123*	probably null	Het
Prmt2	C	A	10: 76,236,740 (GRCm38)	C9F	possibly damaging	Het
Rbl1	T	A	2: 157,167,325 (GRCm38)	K763N	probably benign	Het
Rfk	C	T	19: 17,395,198 (GRCm38)	A28V	probably damaging	Het
Sdk1	G	A	5: 141,962,669 (GRCm38)	V590I	probably benign	Het
Sele	A	G	1: 164,049,574 (GRCm38)	K140E	probably benign	Het
Skiv2l2	G	A	13: 112,908,952 (GRCm38)	R349W	probably damaging	Het
Sla	G	A	15: 66,783,723 (GRCm38)	T189I	probably damaging	Het
Slc46a2	A	G	4: 59,913,906 (GRCm38)	V339A	probably damaging	Het
Slc5a9	A	G	4: 111,885,600 (GRCm38)	F432L	probably benign	Het
Slc6a19	A	G	13: 73,691,740 (GRCm38)	F141S	possibly damaging	Het
Tas2r123	T	C	6: 132,847,308 (GRCm38)	L56S	probably damaging	Het
Tmem245	T	C	4: 56,916,770 (GRCm38)	I53V	probably benign	Het
Tor2a	A	T	2: 32,761,607 (GRCm38)	Q278L	probably benign	Het
Trav6-3	A	G	14: 53,430,115 (GRCm38)	M15V	probably benign	Het
Ubap2	G	A	4: 41,206,268 (GRCm38)	Q534*	probably null	Het
Zfp954	C	A	7: 7,115,625 (GRCm38)	E307*	probably null	Het
Zscan21	A	G	5: 138,126,478 (GRCm38)	K219E	probably benign	Het

Other mutations in Ttc28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Ttc28	APN	5	111,225,688 (GRCm38)	missense	probably damaging	1.00
IGL00963:Ttc28	APN	5	111,286,389 (GRCm38)	nonsense	probably null
IGL00969:Ttc28	APN	5	111,225,740 (GRCm38)	missense	probably benign	0.00
IGL01366:Ttc28	APN	5	111,085,171 (GRCm38)	critical splice donor site	probably null
IGL01528:Ttc28	APN	5	111,101,960 (GRCm38)	splice site	probably benign
IGL01558:Ttc28	APN	5	111,283,962 (GRCm38)	missense	probably damaging	0.99
IGL01973:Ttc28	APN	5	111,224,235 (GRCm38)	missense	possibly damaging	0.88
IGL02040:Ttc28	APN	5	110,892,936 (GRCm38)	nonsense	probably null
IGL02432:Ttc28	APN	5	111,223,235 (GRCm38)	missense	probably damaging	1.00
IGL02531:Ttc28	APN	5	111,225,850 (GRCm38)	missense	probably damaging	1.00
IGL02819:Ttc28	APN	5	111,266,583 (GRCm38)	missense	probably benign
IGL02830:Ttc28	APN	5	111,286,239 (GRCm38)	missense	probably benign	0.10
IGL02893:Ttc28	APN	5	111,285,385 (GRCm38)	missense	possibly damaging	0.87
IGL03387:Ttc28	APN	5	111,233,342 (GRCm38)	missense	probably benign	0.07
PIT4131001:Ttc28	UTSW	5	110,892,853 (GRCm38)	missense	probably benign	0.00
R0142:Ttc28	UTSW	5	111,277,457 (GRCm38)	missense	probably benign	0.40
R0166:Ttc28	UTSW	5	111,225,634 (GRCm38)	missense	probably benign	0.01
R0328:Ttc28	UTSW	5	111,284,067 (GRCm38)	splice site	probably benign
R0582:Ttc28	UTSW	5	111,183,296 (GRCm38)	missense	probably damaging	1.00
R0744:Ttc28	UTSW	5	111,231,081 (GRCm38)	missense	probably damaging	1.00
R0811:Ttc28	UTSW	5	111,235,500 (GRCm38)	missense	probably benign	0.24
R0812:Ttc28	UTSW	5	111,235,500 (GRCm38)	missense	probably benign	0.24
R0828:Ttc28	UTSW	5	111,223,446 (GRCm38)	missense	probably damaging	1.00
R0833:Ttc28	UTSW	5	111,231,081 (GRCm38)	missense	probably damaging	1.00
R1013:Ttc28	UTSW	5	111,276,965 (GRCm38)	missense	probably benign	0.01
R1168:Ttc28	UTSW	5	111,231,111 (GRCm38)	missense	probably damaging	1.00
R1194:Ttc28	UTSW	5	111,225,677 (GRCm38)	missense	probably damaging	1.00
R1195:Ttc28	UTSW	5	111,225,677 (GRCm38)	missense	probably damaging	1.00
R1195:Ttc28	UTSW	5	111,225,677 (GRCm38)	missense	probably damaging	1.00
R1195:Ttc28	UTSW	5	111,225,677 (GRCm38)	missense	probably damaging	1.00
R1196:Ttc28	UTSW	5	111,225,677 (GRCm38)	missense	probably damaging	1.00
R1205:Ttc28	UTSW	5	111,285,769 (GRCm38)	missense	probably benign	0.04
R1386:Ttc28	UTSW	5	111,225,677 (GRCm38)	missense	probably damaging	1.00
R1467:Ttc28	UTSW	5	111,285,388 (GRCm38)	missense	probably benign	0.00
R1467:Ttc28	UTSW	5	111,285,388 (GRCm38)	missense	probably benign	0.00
R1537:Ttc28	UTSW	5	111,285,318 (GRCm38)	missense	probably damaging	0.96
R1539:Ttc28	UTSW	5	111,100,811 (GRCm38)	missense	possibly damaging	0.77
R1558:Ttc28	UTSW	5	111,225,677 (GRCm38)	missense	probably damaging	1.00
R1560:Ttc28	UTSW	5	111,225,677 (GRCm38)	missense	probably damaging	1.00
R1561:Ttc28	UTSW	5	111,225,677 (GRCm38)	missense	probably damaging	1.00
R1566:Ttc28	UTSW	5	111,225,677 (GRCm38)	missense	probably damaging	1.00
R1768:Ttc28	UTSW	5	111,277,168 (GRCm38)	missense	possibly damaging	0.77
R1775:Ttc28	UTSW	5	111,276,811 (GRCm38)	missense	probably benign	0.00
R1909:Ttc28	UTSW	5	111,284,054 (GRCm38)	critical splice donor site	probably null
R1911:Ttc28	UTSW	5	111,280,750 (GRCm38)	missense	possibly damaging	0.93
R1970:Ttc28	UTSW	5	111,235,635 (GRCm38)	missense	probably benign	0.00
R1990:Ttc28	UTSW	5	111,276,322 (GRCm38)	missense	probably benign	0.37
R1992:Ttc28	UTSW	5	111,276,322 (GRCm38)	missense	probably benign	0.37
R2066:Ttc28	UTSW	5	111,225,933 (GRCm38)	missense	probably benign	0.01
R2112:Ttc28	UTSW	5	111,276,273 (GRCm38)	missense	probably damaging	0.99
R2158:Ttc28	UTSW	5	111,177,617 (GRCm38)	intron	probably benign
R2192:Ttc28	UTSW	5	111,223,496 (GRCm38)	missense	probably damaging	0.99
R2267:Ttc28	UTSW	5	111,226,003 (GRCm38)	missense	possibly damaging	0.75
R2384:Ttc28	UTSW	5	111,276,208 (GRCm38)	missense	possibly damaging	0.95
R2989:Ttc28	UTSW	5	111,224,015 (GRCm38)	missense	probably benign	0.29
R3881:Ttc28	UTSW	5	111,183,240 (GRCm38)	missense	probably damaging	1.00
R3919:Ttc28	UTSW	5	111,285,379 (GRCm38)	missense	possibly damaging	0.80
R4455:Ttc28	UTSW	5	111,224,058 (GRCm38)	frame shift	probably null
R4456:Ttc28	UTSW	5	111,224,058 (GRCm38)	frame shift	probably null
R4522:Ttc28	UTSW	5	111,280,172 (GRCm38)	missense	probably benign	0.01
R4548:Ttc28	UTSW	5	111,271,224 (GRCm38)	missense	possibly damaging	0.86
R4591:Ttc28	UTSW	5	111,223,281 (GRCm38)	missense	probably damaging	1.00
R4633:Ttc28	UTSW	5	111,224,001 (GRCm38)	missense	probably damaging	1.00
R4700:Ttc28	UTSW	5	111,277,043 (GRCm38)	missense	probably damaging	1.00
R4714:Ttc28	UTSW	5	111,285,229 (GRCm38)	missense	possibly damaging	0.65
R4790:Ttc28	UTSW	5	111,224,217 (GRCm38)	missense	possibly damaging	0.94
R4803:Ttc28	UTSW	5	111,277,463 (GRCm38)	missense	possibly damaging	0.90
R4840:Ttc28	UTSW	5	111,286,081 (GRCm38)	missense	probably damaging	1.00
R4969:Ttc28	UTSW	5	111,276,255 (GRCm38)	missense	probably damaging	0.96
R5019:Ttc28	UTSW	5	111,102,064 (GRCm38)	missense	possibly damaging	0.47
R5130:Ttc28	UTSW	5	110,892,856 (GRCm38)	missense	probably benign
R5150:Ttc28	UTSW	5	111,225,689 (GRCm38)	missense	probably damaging	1.00
R5214:Ttc28	UTSW	5	111,177,623 (GRCm38)	intron	probably benign
R5254:Ttc28	UTSW	5	111,271,238 (GRCm38)	missense	probably benign	0.01
R5518:Ttc28	UTSW	5	111,225,928 (GRCm38)	missense	probably benign	0.17
R5931:Ttc28	UTSW	5	111,085,109 (GRCm38)	missense	possibly damaging	0.81
R6011:Ttc28	UTSW	5	111,286,443 (GRCm38)	missense	probably benign
R6176:Ttc28	UTSW	5	111,223,985 (GRCm38)	missense	probably damaging	1.00
R6221:Ttc28	UTSW	5	111,271,248 (GRCm38)	missense	probably benign	0.00
R6398:Ttc28	UTSW	5	111,276,276 (GRCm38)	missense	probably damaging	1.00
R6717:Ttc28	UTSW	5	111,285,436 (GRCm38)	missense	probably benign
R6770:Ttc28	UTSW	5	111,286,140 (GRCm38)	missense	probably damaging	1.00
R6901:Ttc28	UTSW	5	111,277,025 (GRCm38)	missense	possibly damaging	0.88
R7038:Ttc28	UTSW	5	111,266,579 (GRCm38)	missense	probably benign	0.09
R7073:Ttc28	UTSW	5	111,223,416 (GRCm38)	missense	possibly damaging	0.96
R7101:Ttc28	UTSW	5	111,085,092 (GRCm38)	missense	probably damaging	1.00
R7135:Ttc28	UTSW	5	111,280,007 (GRCm38)	missense	probably damaging	1.00
R7350:Ttc28	UTSW	5	111,226,037 (GRCm38)	missense	probably damaging	0.97
R7454:Ttc28	UTSW	5	111,285,484 (GRCm38)	missense	probably benign	0.19
R7461:Ttc28	UTSW	5	111,224,129 (GRCm38)	missense	probably damaging	1.00
R7596:Ttc28	UTSW	5	111,280,124 (GRCm38)	missense	probably damaging	1.00
R7613:Ttc28	UTSW	5	111,224,129 (GRCm38)	missense	probably damaging	1.00
R7625:Ttc28	UTSW	5	111,285,219 (GRCm38)	missense	possibly damaging	0.65
R7648:Ttc28	UTSW	5	111,183,392 (GRCm38)	missense	possibly damaging	0.52
R7735:Ttc28	UTSW	5	111,266,678 (GRCm38)	splice site	probably null
R8030:Ttc28	UTSW	5	111,286,056 (GRCm38)	missense	possibly damaging	0.81
R8205:Ttc28	UTSW	5	111,225,730 (GRCm38)	missense	possibly damaging	0.95
R8246:Ttc28	UTSW	5	111,233,341 (GRCm38)	missense	probably benign	0.33
R8247:Ttc28	UTSW	5	111,233,341 (GRCm38)	missense	probably benign	0.33
R8269:Ttc28	UTSW	5	111,277,459 (GRCm38)	missense	probably benign	0.09
R8292:Ttc28	UTSW	5	111,223,257 (GRCm38)	missense	probably damaging	1.00
R8346:Ttc28	UTSW	5	111,233,341 (GRCm38)	missense	probably benign	0.33
R8356:Ttc28	UTSW	5	111,233,341 (GRCm38)	missense	probably benign	0.33
R8423:Ttc28	UTSW	5	111,233,341 (GRCm38)	missense	probably benign	0.33
R8424:Ttc28	UTSW	5	111,233,341 (GRCm38)	missense	probably benign	0.33
R8426:Ttc28	UTSW	5	111,233,341 (GRCm38)	missense	probably benign	0.33
R8441:Ttc28	UTSW	5	111,177,641 (GRCm38)	nonsense	probably null
R8494:Ttc28	UTSW	5	111,235,640 (GRCm38)	missense	probably damaging	0.96
R8508:Ttc28	UTSW	5	111,233,341 (GRCm38)	missense	probably benign	0.33
R8510:Ttc28	UTSW	5	111,233,341 (GRCm38)	missense	probably benign	0.33
R8729:Ttc28	UTSW	5	111,235,643 (GRCm38)	critical splice donor site	probably null
R8845:Ttc28	UTSW	5	111,224,175 (GRCm38)	missense	probably benign	0.11
R9003:Ttc28	UTSW	5	111,277,030 (GRCm38)	missense	probably benign	0.00
R9185:Ttc28	UTSW	5	111,223,476 (GRCm38)	missense	probably benign	0.03
R9187:Ttc28	UTSW	5	111,102,036 (GRCm38)	missense	probably damaging	1.00
R9245:Ttc28	UTSW	5	111,177,659 (GRCm38)	missense	unknown
R9251:Ttc28	UTSW	5	110,892,832 (GRCm38)	missense	possibly damaging	0.47
R9372:Ttc28	UTSW	5	111,183,207 (GRCm38)	missense	probably benign	0.25
R9466:Ttc28	UTSW	5	111,183,029 (GRCm38)	missense	probably damaging	0.99
R9563:Ttc28	UTSW	5	111,223,226 (GRCm38)	missense	probably benign	0.22
R9606:Ttc28	UTSW	5	111,285,274 (GRCm38)	missense	probably benign	0.00
R9691:Ttc28	UTSW	5	111,284,013 (GRCm38)	missense	probably benign	0.01
R9709:Ttc28	UTSW	5	111,285,771 (GRCm38)	missense	probably damaging	0.97
V8831:Ttc28	UTSW	5	111,100,712 (GRCm38)	missense	probably benign	0.11
Z1088:Ttc28	UTSW	5	111,286,315 (GRCm38)	missense	probably benign	0.00
Z1176:Ttc28	UTSW	5	111,266,566 (GRCm38)	missense	possibly damaging	0.59
Z1177:Ttc28	UTSW	5	111,285,739 (GRCm38)	missense	probably benign	0.10
Z1177:Ttc28	UTSW	5	111,278,586 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTCTGCACGTGTCATCAG -3'
(R):5'- TGGTGATGAACTAGGCACAGC -3'

Sequencing Primer
(F):5'- ACGTGTCATCAGAAGCTTGC -3'
(R):5'- GCCTCTTACCTGGAGTAGTAAGAC -3'

Posted On

2017-02-10