Mutagenetix > Incidental Mutation

Incidental Mutation 'R1338:Ttc6'

156946

Institutional Source

Beutler Lab

Gene Symbol

Ttc6

Ensembl Gene

ENSMUSG00000046782

Gene Name

tetratricopeptide repeat domain 6

Synonyms

LOC217602, Gm9813, EG639426, 4921506M07Rik, AU024163

MMRRC Submission

039403-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R1338 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57610899-57784714 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57663155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 317 (N317I)

Ref Sequence

ENSEMBL: ENSMUSP00000134273 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101398] [ENSMUST00000172939]

AlphaFold

G3UYY4

Predicted Effect

probably benign
Transcript: ENSMUST00000101398
AA Change: N317I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000098946
Gene: ENSMUSG00000046782
AA Change: N317I

Domain	Start	End	E-Value	Type
coiled coil region	18	42	N/A	INTRINSIC
low complexity region	146	162	N/A	INTRINSIC
low complexity region	188	212	N/A	INTRINSIC
low complexity region	227	238	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143949

Predicted Effect

probably benign
Transcript: ENSMUST00000172939
AA Change: N317I

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000134273
Gene: ENSMUSG00000046782
AA Change: N317I

Domain	Start	End	E-Value	Type
coiled coil region	18	42	N/A	INTRINSIC
low complexity region	146	162	N/A	INTRINSIC
low complexity region	188	212	N/A	INTRINSIC
low complexity region	227	238	N/A	INTRINSIC
low complexity region	486	495	N/A	INTRINSIC
low complexity region	670	685	N/A	INTRINSIC
low complexity region	733	740	N/A	INTRINSIC
TPR	889	922	2e-4	SMART
TPR	957	989	2.36e1	SMART
TPR	990	1022	2.63e1	SMART
TPR	1023	1056	9.39e-1	SMART
TPR	1057	1090	3.78e-5	SMART
Blast:TPR	1126	1157	1e-11	BLAST
SEL1	1160	1192	3.39e1	SMART
TPR	1160	1194	4.44e1	SMART
TPR	1195	1228	7.87e0	SMART
Blast:TPR	1229	1262	1e-11	BLAST
TPR	1297	1330	1.24e0	SMART
SEL1	1341	1372	9.26e-1	SMART
TPR	1341	1374	3.45e-8	SMART
TPR	1375	1407	8.76e-1	SMART
TPR	1408	1441	1.45e-1	SMART
TPR	1442	1475	1.36e1	SMART
TPR	1476	1509	7.34e-3	SMART
TPR	1513	1546	1.01e0	SMART
TPR	1547	1580	2.55e-2	SMART
TPR	1581	1617	2.43e1	SMART
Blast:TPR	1618	1651	4e-12	BLAST
TPR	1652	1685	7.87e0	SMART
TPR	1686	1718	2.35e-1	SMART
SEL1	1719	1750	1.21e2	SMART
TPR	1719	1752	1.65e-5	SMART
TPR	1753	1786	1.66e-1	SMART
TPR	1787	1820	1.45e-1	SMART
TPR	1821	1854	3.27e0	SMART

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.7%
20x: 88.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	G	T	10: 4,263,773 (GRCm39)	V61F	possibly damaging	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Ap4e1	T	A	2: 126,888,829 (GRCm39)	D459E	probably damaging	Het
Bltp1	C	T	3: 37,106,684 (GRCm39)	H5005Y	unknown	Het
Brdt	C	A	5: 107,498,054 (GRCm39)	P243Q	probably benign	Het
C5ar1	A	C	7: 15,982,260 (GRCm39)	F253L	probably damaging	Het
Cep104	T	G	4: 154,078,965 (GRCm39)	V323G	probably benign	Het
Col11a1	A	T	3: 114,010,644 (GRCm39)		probably benign	Het
Fat3	T	A	9: 15,836,387 (GRCm39)	Y4039F	probably benign	Het
Lmcd1	A	C	6: 112,282,089 (GRCm39)	H41P	probably damaging	Het
Or9s18	T	C	13: 65,300,197 (GRCm39)	L53P	probably damaging	Het
P2ry13	T	C	3: 59,117,710 (GRCm39)	T23A	probably benign	Het
Pcdhb14	A	T	18: 37,582,943 (GRCm39)	E683V	probably benign	Het
Pck1	G	A	2: 173,000,203 (GRCm39)	E545K	probably benign	Het
Pkhd1l1	T	C	15: 44,390,120 (GRCm39)	V1412A	probably damaging	Het
Rnf139	T	C	15: 58,771,064 (GRCm39)	V363A	probably damaging	Het
Serpinh1	A	G	7: 98,998,118 (GRCm39)	S171P	probably damaging	Het
Skint6	T	C	4: 112,870,158 (GRCm39)	K600R	possibly damaging	Het
Slc7a1	C	T	5: 148,282,746 (GRCm39)	E34K	probably damaging	Het
Spata31d1b	AGGG	AGG	13: 59,865,975 (GRCm39)		probably null	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Zan	A	T	5: 137,391,913 (GRCm39)	C4627*	probably null	Het
Zfhx4	T	C	3: 5,462,021 (GRCm39)	V1232A	possibly damaging	Het

Other mutations in Ttc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03278:Ttc6	APN	12	57,668,812 (GRCm39)	missense	probably damaging	0.99
polonius	UTSW	12	57,704,928 (GRCm39)	splice site	probably null
tybalt	UTSW	12	57,720,542 (GRCm39)	missense	possibly damaging	0.85
IGL02802:Ttc6	UTSW	12	57,622,654 (GRCm39)	missense	probably benign	0.14
PIT4802001:Ttc6	UTSW	12	57,772,462 (GRCm39)	missense	possibly damaging	0.89
R0698:Ttc6	UTSW	12	57,720,002 (GRCm39)	missense	probably benign	0.04
R0988:Ttc6	UTSW	12	57,735,435 (GRCm39)	splice site	probably benign
R1290:Ttc6	UTSW	12	57,707,199 (GRCm39)	missense	probably benign	0.00
R1468:Ttc6	UTSW	12	57,721,463 (GRCm39)	missense	possibly damaging	0.54
R1468:Ttc6	UTSW	12	57,721,463 (GRCm39)	missense	possibly damaging	0.54
R1481:Ttc6	UTSW	12	57,783,916 (GRCm39)	missense	probably damaging	1.00
R1488:Ttc6	UTSW	12	57,696,301 (GRCm39)	missense	possibly damaging	0.66
R1558:Ttc6	UTSW	12	57,733,132 (GRCm39)	missense	probably benign	0.14
R1570:Ttc6	UTSW	12	57,721,549 (GRCm39)	missense	probably damaging	0.98
R1619:Ttc6	UTSW	12	57,784,454 (GRCm39)	missense	possibly damaging	0.73
R1819:Ttc6	UTSW	12	57,741,286 (GRCm39)	critical splice donor site	probably null
R1826:Ttc6	UTSW	12	57,707,033 (GRCm39)	missense	probably benign	0.10
R1863:Ttc6	UTSW	12	57,760,881 (GRCm39)	missense	probably benign	0.04
R1872:Ttc6	UTSW	12	57,751,338 (GRCm39)	critical splice donor site	probably null
R1887:Ttc6	UTSW	12	57,720,044 (GRCm39)	missense	probably benign	0.04
R1937:Ttc6	UTSW	12	57,663,109 (GRCm39)	missense	probably benign	0.02
R2014:Ttc6	UTSW	12	57,623,003 (GRCm39)	missense	possibly damaging	0.92
R2056:Ttc6	UTSW	12	57,784,479 (GRCm39)	missense	probably benign	0.08
R2058:Ttc6	UTSW	12	57,784,479 (GRCm39)	missense	probably benign	0.08
R2059:Ttc6	UTSW	12	57,784,479 (GRCm39)	missense	probably benign	0.08
R2152:Ttc6	UTSW	12	57,752,338 (GRCm39)	missense	probably damaging	0.98
R2179:Ttc6	UTSW	12	57,719,904 (GRCm39)	missense	possibly damaging	0.62
R2275:Ttc6	UTSW	12	57,749,084 (GRCm39)	missense	probably benign	0.01
R2432:Ttc6	UTSW	12	57,668,821 (GRCm39)	missense	possibly damaging	0.79
R2474:Ttc6	UTSW	12	57,622,713 (GRCm39)	missense	probably benign	0.37
R2853:Ttc6	UTSW	12	57,622,967 (GRCm39)	missense	probably damaging	0.96
R3848:Ttc6	UTSW	12	57,723,932 (GRCm39)	missense	probably damaging	0.97
R3853:Ttc6	UTSW	12	57,775,335 (GRCm39)	missense	possibly damaging	0.88
R3950:Ttc6	UTSW	12	57,696,292 (GRCm39)	missense	probably damaging	0.97
R3953:Ttc6	UTSW	12	57,744,238 (GRCm39)	missense	probably benign	0.03
R3954:Ttc6	UTSW	12	57,744,238 (GRCm39)	missense	probably benign	0.03
R3955:Ttc6	UTSW	12	57,744,238 (GRCm39)	missense	probably benign	0.03
R3957:Ttc6	UTSW	12	57,744,238 (GRCm39)	missense	probably benign	0.03
R4135:Ttc6	UTSW	12	57,679,581 (GRCm39)	intron	probably benign
R4387:Ttc6	UTSW	12	57,689,836 (GRCm39)	missense	probably benign	0.00
R4577:Ttc6	UTSW	12	57,623,441 (GRCm39)	missense	probably benign	0.22
R4747:Ttc6	UTSW	12	57,721,478 (GRCm39)	missense	possibly damaging	0.86
R4779:Ttc6	UTSW	12	57,776,237 (GRCm39)	missense	probably damaging	1.00
R4803:Ttc6	UTSW	12	57,775,291 (GRCm39)	missense	probably damaging	1.00
R4871:Ttc6	UTSW	12	57,749,142 (GRCm39)	missense	probably damaging	0.96
R4898:Ttc6	UTSW	12	57,707,026 (GRCm39)	missense	probably benign	0.00
R4930:Ttc6	UTSW	12	57,720,609 (GRCm39)	critical splice donor site	probably null
R4946:Ttc6	UTSW	12	57,689,926 (GRCm39)	missense	probably benign	0.01
R5257:Ttc6	UTSW	12	57,749,061 (GRCm39)	missense	possibly damaging	0.92
R5303:Ttc6	UTSW	12	57,622,606 (GRCm39)	missense	possibly damaging	0.90
R5385:Ttc6	UTSW	12	57,689,821 (GRCm39)	splice site	probably null
R5402:Ttc6	UTSW	12	57,783,817 (GRCm39)	nonsense	probably null
R5428:Ttc6	UTSW	12	57,736,620 (GRCm39)	missense	probably null	0.98
R5436:Ttc6	UTSW	12	57,721,380 (GRCm39)	splice site	probably null
R5646:Ttc6	UTSW	12	57,622,805 (GRCm39)	missense	probably damaging	0.99
R5697:Ttc6	UTSW	12	57,724,000 (GRCm39)	missense	probably benign	0.22
R5792:Ttc6	UTSW	12	57,719,990 (GRCm39)	missense	possibly damaging	0.71
R5808:Ttc6	UTSW	12	57,664,397 (GRCm39)	missense	possibly damaging	0.84
R5842:Ttc6	UTSW	12	57,783,802 (GRCm39)	missense	probably damaging	1.00
R5935:Ttc6	UTSW	12	57,720,590 (GRCm39)	missense	probably damaging	0.98
R6144:Ttc6	UTSW	12	57,719,886 (GRCm39)	missense	possibly damaging	0.83
R6155:Ttc6	UTSW	12	57,784,402 (GRCm39)	missense	possibly damaging	0.84
R6283:Ttc6	UTSW	12	57,749,048 (GRCm39)	missense	possibly damaging	0.95
R6371:Ttc6	UTSW	12	57,775,249 (GRCm39)	missense	possibly damaging	0.89
R6715:Ttc6	UTSW	12	57,721,556 (GRCm39)	critical splice donor site	probably null
R6738:Ttc6	UTSW	12	57,735,426 (GRCm39)	missense	probably damaging	0.99
R6795:Ttc6	UTSW	12	57,751,199 (GRCm39)	missense	probably damaging	0.96
R6959:Ttc6	UTSW	12	57,704,928 (GRCm39)	splice site	probably null
R7053:Ttc6	UTSW	12	57,707,318 (GRCm39)	missense	probably benign	0.01
R7125:Ttc6	UTSW	12	57,623,125 (GRCm39)	missense	probably benign	0.00
R7259:Ttc6	UTSW	12	57,622,970 (GRCm39)	missense	probably benign	0.00
R7304:Ttc6	UTSW	12	57,622,837 (GRCm39)	missense	probably damaging	0.96
R7369:Ttc6	UTSW	12	57,719,717 (GRCm39)	critical splice acceptor site	probably null
R7409:Ttc6	UTSW	12	57,743,772 (GRCm39)	missense	probably damaging	0.99
R7429:Ttc6	UTSW	12	57,704,888 (GRCm39)	missense	probably benign	0.00
R7430:Ttc6	UTSW	12	57,704,888 (GRCm39)	missense	probably benign	0.00
R7492:Ttc6	UTSW	12	57,719,922 (GRCm39)	missense	probably benign	0.02
R7535:Ttc6	UTSW	12	57,623,305 (GRCm39)	missense	probably benign	0.00
R7866:Ttc6	UTSW	12	57,721,435 (GRCm39)	missense	probably damaging	0.97
R7901:Ttc6	UTSW	12	57,735,353 (GRCm39)	missense	probably damaging	1.00
R7944:Ttc6	UTSW	12	57,707,229 (GRCm39)	missense	possibly damaging	0.46
R7945:Ttc6	UTSW	12	57,707,229 (GRCm39)	missense	possibly damaging	0.46
R7965:Ttc6	UTSW	12	57,720,542 (GRCm39)	missense	possibly damaging	0.85
R8062:Ttc6	UTSW	12	57,783,764 (GRCm39)	missense	possibly damaging	0.90
R8119:Ttc6	UTSW	12	57,752,429 (GRCm39)	missense	possibly damaging	0.78
R8142:Ttc6	UTSW	12	57,744,258 (GRCm39)	missense	possibly damaging	0.87
R8154:Ttc6	UTSW	12	57,776,210 (GRCm39)	missense	probably damaging	1.00
R8171:Ttc6	UTSW	12	57,720,096 (GRCm39)	missense	probably damaging	1.00
R8335:Ttc6	UTSW	12	57,707,077 (GRCm39)	missense	probably benign	0.00
R8343:Ttc6	UTSW	12	57,707,282 (GRCm39)	missense	possibly damaging	0.47
R8696:Ttc6	UTSW	12	57,784,492 (GRCm39)	missense	probably benign	0.20
R8875:Ttc6	UTSW	12	57,776,194 (GRCm39)	missense	possibly damaging	0.46
R8875:Ttc6	UTSW	12	57,751,199 (GRCm39)	missense	probably damaging	0.96
R8876:Ttc6	UTSW	12	57,784,489 (GRCm39)	missense	possibly damaging	0.81
R8924:Ttc6	UTSW	12	57,697,790 (GRCm39)	nonsense	probably null
R8944:Ttc6	UTSW	12	57,689,826 (GRCm39)	missense
R8956:Ttc6	UTSW	12	57,775,196 (GRCm39)	nonsense	probably null
R9009:Ttc6	UTSW	12	57,744,219 (GRCm39)	missense	probably damaging	1.00
R9020:Ttc6	UTSW	12	57,752,366 (GRCm39)	missense	probably damaging	1.00
R9051:Ttc6	UTSW	12	57,783,949 (GRCm39)	missense	probably damaging	1.00
R9232:Ttc6	UTSW	12	57,776,210 (GRCm39)	missense	probably damaging	1.00
R9291:Ttc6	UTSW	12	57,622,730 (GRCm39)	missense	probably damaging	0.99
R9304:Ttc6	UTSW	12	57,776,117 (GRCm39)	missense	probably damaging	0.99
R9309:Ttc6	UTSW	12	57,753,649 (GRCm39)	missense	possibly damaging	0.69
R9331:Ttc6	UTSW	12	57,720,509 (GRCm39)	missense	probably damaging	1.00
R9398:Ttc6	UTSW	12	57,784,404 (GRCm39)	nonsense	probably null
R9430:Ttc6	UTSW	12	57,733,193 (GRCm39)	missense	probably damaging	1.00
R9632:Ttc6	UTSW	12	57,664,299 (GRCm39)	missense	probably benign
R9688:Ttc6	UTSW	12	57,720,602 (GRCm39)	missense	possibly damaging	0.92
R9732:Ttc6	UTSW	12	57,775,335 (GRCm39)	missense	probably benign	0.36
R9740:Ttc6	UTSW	12	57,736,496 (GRCm39)	missense	probably damaging	1.00
R9749:Ttc6	UTSW	12	57,701,559 (GRCm39)	missense	probably benign	0.00
X0021:Ttc6	UTSW	12	57,622,904 (GRCm39)	missense	probably damaging	0.96
X0058:Ttc6	UTSW	12	57,753,637 (GRCm39)	missense	probably damaging	0.99
Z1176:Ttc6	UTSW	12	57,744,161 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- CAGGGATGGTAAAAGTGACCCTGGA -3'
(R):5'- AAGCCCATACAGCTTTGTGTTGGAT -3'

Sequencing Primer
(F):5'- tcagaaatccgcctgcc -3'
(R):5'- GTTGGATGCTTAGACATACTTCAAAG -3'

Posted On

2014-02-11