Mutagenetix > Incidental Mutation

Incidental Mutation 'R5130:Ttc28'

394947

Institutional Source

Beutler Lab

Gene Symbol

Ttc28

Ensembl Gene

ENSMUSG00000033209

Gene Name

tetratricopeptide repeat domain 28

Synonyms

TPRBK, 2310015L07Rik

MMRRC Submission

042718-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5130 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111027669-111437646 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 111040722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 37 (V37F)

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: V37F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136116
Gene: ENSMUSG00000033209
AA Change: V37F

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: ENSMUST00000143505

Predicted Effect

probably benign
Transcript: ENSMUST00000156290
AA Change: V37F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137609
Gene: ENSMUSG00000033209
AA Change: V37F

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.4%

Validation Efficiency

96% (51/53)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	T	C	1: 161,780,184 (GRCm39)	N110S	possibly damaging	Het
Acss3	T	C	10: 106,840,586 (GRCm39)	I392V	possibly damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
Arhgef11	A	G	3: 87,633,321 (GRCm39)	H696R	possibly damaging	Het
Baiap3	G	T	17: 25,464,316 (GRCm39)	D847E	probably benign	Het
Cdc27	T	C	11: 104,425,600 (GRCm39)	K72R	probably benign	Het
Cry2	T	C	2: 92,254,944 (GRCm39)	E137G	probably benign	Het
Dhodh	A	T	8: 110,322,388 (GRCm39)	L237Q	possibly damaging	Het
Dscam	A	T	16: 96,620,979 (GRCm39)	N576K	probably benign	Het
Eng	A	G	2: 32,571,518 (GRCm39)	N636S	probably damaging	Het
Ephx2	A	T	14: 66,345,511 (GRCm39)	I151K	probably damaging	Het
Fahd1	A	G	17: 25,068,733 (GRCm39)	C115R	probably damaging	Het
Fer1l4	T	A	2: 155,891,386 (GRCm39)	I143F	possibly damaging	Het
Iqgap3	C	A	3: 88,016,161 (GRCm39)	N981K	probably damaging	Het
Kcna5	T	C	6: 126,511,496 (GRCm39)	I211V	probably benign	Het
Mcm9	A	T	10: 53,506,495 (GRCm39)	V14E	possibly damaging	Het
Mlh1	A	G	9: 111,058,906 (GRCm39)		probably null	Het
Mylk	A	G	16: 34,809,367 (GRCm39)	K1775E	probably damaging	Het
Myo18b	T	C	5: 113,021,769 (GRCm39)	D541G	probably benign	Het
Ncapd2	A	T	6: 125,146,887 (GRCm39)	M1233K	possibly damaging	Het
Nf2	A	T	11: 4,779,862 (GRCm39)		probably benign	Het
Nova2	C	T	7: 18,660,069 (GRCm39)	T22I	unknown	Het
Or3a1d	A	T	11: 74,237,993 (GRCm39)	M19K	probably damaging	Het
Or7g28	T	A	9: 19,272,369 (GRCm39)	Y94F	possibly damaging	Het
Or8b12	T	A	9: 37,657,805 (GRCm39)	I125N	probably damaging	Het
Pcdha2	A	T	18: 37,073,722 (GRCm39)	N451I	probably damaging	Het
Pcdhb12	T	A	18: 37,568,877 (GRCm39)	F8I	probably benign	Het
Pdzph1	A	C	17: 59,229,604 (GRCm39)	L1018W	probably damaging	Het
Prdm9	T	C	17: 15,764,729 (GRCm39)	R684G	probably benign	Het
Rabep1	T	A	11: 70,795,557 (GRCm39)	V261E	probably damaging	Het
Ros1	T	A	10: 52,040,037 (GRCm39)	Y318F	possibly damaging	Het
Samd9l	A	T	6: 3,374,548 (GRCm39)	D904E	possibly damaging	Het
Siah3	A	T	14: 75,763,381 (GRCm39)	K211*	probably null	Het
Slc5a8	T	A	10: 88,762,077 (GRCm39)	N572K	probably benign	Het
Slfn8	A	G	11: 82,894,647 (GRCm39)	F664S	probably benign	Het
Sowahb	T	A	5: 93,190,630 (GRCm39)	K696N	possibly damaging	Het
St7l	A	T	3: 104,803,080 (GRCm39)	H330L	probably damaging	Het
Tnrc6c	T	A	11: 117,629,176 (GRCm39)		probably null	Het
Uaca	C	A	9: 60,787,510 (GRCm39)	Q1409K	probably damaging	Het
V1rd19	T	A	7: 23,702,537 (GRCm39)	M1K	probably null	Het
Vmn1r225	A	G	17: 20,723,047 (GRCm39)	R163G	possibly damaging	Het
Wdr87-ps	T	C	7: 29,228,699 (GRCm39)		noncoding transcript	Het
Zc3h3	C	A	15: 75,651,139 (GRCm39)	V694L	probably damaging	Het
Zfp442	G	T	2: 150,251,530 (GRCm39)	T123K	possibly damaging	Het
Zmym1	A	T	4: 126,942,451 (GRCm39)	S646T	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
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
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
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'- CTGTTGGCTGTTTCAAGGAAAGC -3'
(R):5'- ATGTAGGCTGCAGATCTGTTGC -3'

Sequencing Primer
(F):5'- TGGCTGTTTCAAGGAAAGCATATG -3'
(R):5'- AGGCTGCAGATCTGTTGCTATAC -3'

Posted On

2016-06-21