Mutagenetix > Incidental Mutation

Incidental Mutation 'R9006:Ttc16'

685270

Institutional Source

Beutler Lab

Gene Symbol

Ttc16

Ensembl Gene

ENSMUSG00000039021

Gene Name

tetratricopeptide repeat domain 16

Synonyms

1200002K10Rik

MMRRC Submission

068836-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R9006 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32647038-32665645 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32652985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 615 (S615P)

Ref Sequence

ENSEMBL: ENSMUSP00000124031 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009707] [ENSMUST00000066478] [ENSMUST00000091059] [ENSMUST00000125891] [ENSMUST00000156617] [ENSMUST00000161089] [ENSMUST00000161430] [ENSMUST00000161950] [ENSMUST00000175763] [ENSMUST00000177382]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000009707

SMART Domains

Protein: ENSMUSP00000009707
Gene: ENSMUSG00000009563

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Torsin	35	160	1.2e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000066478
AA Change: S558P

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000068977
Gene: ENSMUSG00000039021
AA Change: S558P

Domain	Start	End	E-Value	Type
TPR	18	51	2.26e-3	SMART
TPR	52	85	4.09e-1	SMART
TPR	93	126	8.3e-2	SMART
TPR	161	194	4.44e1	SMART
TPR	208	241	3.69e1	SMART
TPR	242	275	1.08e1	SMART
Blast:TPR	288	321	2e-10	BLAST
TPR	322	355	1.02e-1	SMART
TPR	363	396	7.27e0	SMART
Blast:TPR	397	430	2e-12	BLAST
low complexity region	539	554	N/A	INTRINSIC
low complexity region	565	577	N/A	INTRINSIC
low complexity region	629	640	N/A	INTRINSIC
low complexity region	725	750	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000091059

SMART Domains

Protein: ENSMUSP00000088585
Gene: ENSMUSG00000039021

Domain	Start	End	E-Value	Type
TPR	75	108	2.26e-3	SMART
TPR	109	142	4.09e-1	SMART
TPR	150	183	8.3e-2	SMART
TPR	218	251	4.44e1	SMART
TPR	265	298	3.69e1	SMART
TPR	299	332	1.08e1	SMART
Blast:TPR	345	378	2e-10	BLAST
TPR	379	412	1.02e-1	SMART
TPR	420	453	7.27e0	SMART
Blast:TPR	454	487	2e-12	BLAST
low complexity region	631	644	N/A	INTRINSIC
low complexity region	666	679	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125891

Predicted Effect

probably benign
Transcript: ENSMUST00000140999

Predicted Effect

probably benign
Transcript: ENSMUST00000156617

SMART Domains

Protein: ENSMUSP00000122251
Gene: ENSMUSG00000009563

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161089
AA Change: S558P

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124915
Gene: ENSMUSG00000039021
AA Change: S558P

Domain	Start	End	E-Value	Type
TPR	18	51	2.26e-3	SMART
TPR	52	85	4.09e-1	SMART
TPR	93	126	8.3e-2	SMART
TPR	161	194	4.44e1	SMART
TPR	208	241	3.69e1	SMART
TPR	242	275	1.08e1	SMART
Blast:TPR	288	321	2e-10	BLAST
TPR	322	355	1.02e-1	SMART
TPR	363	396	7.27e0	SMART
Blast:TPR	397	430	2e-12	BLAST
low complexity region	539	554	N/A	INTRINSIC
low complexity region	565	577	N/A	INTRINSIC
low complexity region	629	640	N/A	INTRINSIC
low complexity region	725	750	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161430
AA Change: S615P

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124031
Gene: ENSMUSG00000039021
AA Change: S615P

Domain	Start	End	E-Value	Type
TPR	75	108	2.26e-3	SMART
TPR	109	142	4.09e-1	SMART
TPR	150	183	8.3e-2	SMART
TPR	218	251	4.44e1	SMART
TPR	265	298	3.69e1	SMART
TPR	299	332	1.08e1	SMART
Blast:TPR	345	378	2e-10	BLAST
TPR	379	412	1.02e-1	SMART
TPR	420	453	7.27e0	SMART
Blast:TPR	454	487	2e-12	BLAST
low complexity region	596	611	N/A	INTRINSIC
low complexity region	622	634	N/A	INTRINSIC
low complexity region	686	697	N/A	INTRINSIC
low complexity region	782	807	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161950
AA Change: S558P

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000123927
Gene: ENSMUSG00000039021
AA Change: S558P

Domain	Start	End	E-Value	Type
TPR	18	51	2.26e-3	SMART
TPR	52	85	4.09e-1	SMART
TPR	93	126	8.3e-2	SMART
TPR	161	194	4.44e1	SMART
TPR	208	241	3.69e1	SMART
TPR	242	275	1.08e1	SMART
Blast:TPR	288	321	2e-10	BLAST
TPR	322	355	1.02e-1	SMART
TPR	363	396	7.27e0	SMART
Blast:TPR	397	430	2e-12	BLAST
low complexity region	539	554	N/A	INTRINSIC
low complexity region	565	577	N/A	INTRINSIC
low complexity region	629	640	N/A	INTRINSIC
low complexity region	725	750	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175763

SMART Domains

Protein: ENSMUSP00000135701
Gene: ENSMUSG00000009563

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177382

SMART Domains

Protein: ENSMUSP00000134968
Gene: ENSMUSG00000009563

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Torsin	35	101	1.4e-25	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (72/74)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,665,820 (GRCm39)	N267D	probably benign	Het
Akap1	A	T	11: 88,723,996 (GRCm39)	M803K	possibly damaging	Het
Amer2	G	C	14: 60,617,376 (GRCm39)	D524H	probably damaging	Het
Ankrd31	T	C	13: 96,967,104 (GRCm39)	F528L	probably benign	Het
Arhgef10l	A	G	4: 140,271,659 (GRCm39)	Y624H	probably benign	Het
Bltp2	T	C	11: 78,164,345 (GRCm39)	F1182L	possibly damaging	Het
Cfap73	G	A	5: 120,767,760 (GRCm39)	Q264*	probably null	Het
Clca3a2	C	A	3: 144,783,789 (GRCm39)	A609S	probably damaging	Het
Cntfr	A	T	4: 41,661,971 (GRCm39)		probably null	Het
Cyp2c65	C	T	19: 39,070,714 (GRCm39)	T299I	probably damaging	Het
Cyp2j5	G	T	4: 96,552,149 (GRCm39)	N33K	probably benign	Het
Dhcr7	T	A	7: 143,394,978 (GRCm39)	S165T	probably benign	Het
Dnah10	A	T	5: 124,820,783 (GRCm39)	D539V	probably benign	Het
Ebag9	A	T	15: 44,503,703 (GRCm39)	Q176L	probably benign	Het
Fbxw20	T	A	9: 109,062,530 (GRCm39)		probably benign	Het
Ftmt	A	G	18: 52,465,112 (GRCm39)	K143E	possibly damaging	Het
Gcc2	C	T	10: 58,103,801 (GRCm39)	R76C	probably damaging	Het
Gcn1	A	G	5: 115,719,566 (GRCm39)	T354A	probably benign	Het
Gtf2h1	A	G	7: 46,458,262 (GRCm39)	M271V	probably benign	Het
Iah1	G	A	12: 21,367,402 (GRCm39)	G36D	probably damaging	Het
Ism2	G	T	12: 87,326,969 (GRCm39)	D323E	probably damaging	Het
Itih4	A	G	14: 30,612,086 (GRCm39)	I184V	probably damaging	Het
Kdm4d	C	A	9: 14,374,833 (GRCm39)	V342L	probably benign	Het
Lmbr1	A	G	5: 29,551,900 (GRCm39)	F62L	probably benign	Het
Lmo7	TCGGATTCTGTGGC	TC	14: 102,155,072 (GRCm39)		probably benign	Het
Lypd8	T	A	11: 58,277,586 (GRCm39)	S123T	possibly damaging	Het
Mical2	T	A	7: 111,981,323 (GRCm39)	N432K	probably benign	Het
Mrgprb4	A	G	7: 47,848,343 (GRCm39)	V195A	probably benign	Het
Ms4a4c	A	T	19: 11,396,360 (GRCm39)	I106F	probably benign	Het
Myo6	A	G	9: 80,136,140 (GRCm39)	T88A	unknown	Het
Naa35	A	G	13: 59,748,842 (GRCm39)	D158G	possibly damaging	Het
Nol12	A	G	15: 78,824,291 (GRCm39)	E137G	possibly damaging	Het
Nsun4	A	G	4: 115,897,316 (GRCm39)	S232P	probably damaging	Het
Odad2	A	T	18: 7,294,516 (GRCm39)	N32K	probably benign	Het
Odam	A	T	5: 88,040,298 (GRCm39)	I255L	probably benign	Het
Or14j8	A	T	17: 38,263,545 (GRCm39)	Y123*	probably null	Het
Or1ad8	A	T	11: 50,897,975 (GRCm39)	M59L	probably damaging	Het
Or1e26	T	A	11: 73,480,036 (GRCm39)	H176L	probably benign	Het
Or2n1d	T	C	17: 38,646,723 (GRCm39)	V225A	possibly damaging	Het
Or2w3b	G	A	11: 58,623,188 (GRCm39)	Q268*	probably null	Het
Or4b1	T	G	2: 89,980,327 (GRCm39)	T8P	probably damaging	Het
Pcnx2	T	C	8: 126,613,996 (GRCm39)	D485G	probably benign	Het
Polr3b	T	A	10: 84,467,697 (GRCm39)	N92K	probably benign	Het
Rpgrip1l	T	A	8: 92,007,436 (GRCm39)	M385L	probably benign	Het
Sdk1	A	T	5: 141,923,321 (GRCm39)	N314I	probably damaging	Het
Shc4	T	C	2: 125,514,394 (GRCm39)		probably benign	Het
Slc45a1	A	C	4: 150,722,731 (GRCm39)	C384W	probably damaging	Het
Slc4a11	C	T	2: 130,532,773 (GRCm39)	V227M	probably damaging	Het
Sorbs2	A	C	8: 46,258,858 (GRCm39)	S1132R	possibly damaging	Het
Spata31e3	G	A	13: 50,401,589 (GRCm39)	H246Y	possibly damaging	Het
Spata31f1e	C	T	4: 42,792,546 (GRCm39)	G529S	probably benign	Het
Spta1	T	A	1: 174,047,537 (GRCm39)	I1727K	probably damaging	Het
Srgap2	T	C	1: 131,283,307 (GRCm39)	E258G	probably damaging	Het
Taco1	A	T	11: 105,956,931 (GRCm39)		probably benign	Het
Taf2	A	T	15: 54,909,301 (GRCm39)	M648K	possibly damaging	Het
Taf7	A	G	18: 37,775,757 (GRCm39)	V270A	probably benign	Het
Tbkbp1	G	A	11: 97,029,707 (GRCm39)	T483I	unknown	Het
Tesc	A	G	5: 118,184,378 (GRCm39)		probably null	Het
Tgs1	A	G	4: 3,595,427 (GRCm39)	N532S	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmem196	T	A	12: 119,978,510 (GRCm39)	C84S	probably damaging	Het
Topbp1	C	T	9: 103,182,499 (GRCm39)		probably benign	Het
Ttc21a	T	A	9: 119,792,130 (GRCm39)		probably benign	Het
Tuba3b	T	C	6: 145,565,564 (GRCm39)	V344A	possibly damaging	Het
Tubgcp4	T	C	2: 121,015,251 (GRCm39)	F320L	probably benign	Het
Tusc3	T	A	8: 39,538,627 (GRCm39)	L222*	probably null	Het
Ubr4	G	A	4: 139,172,003 (GRCm39)		probably null	Het
Uncx	G	T	5: 139,532,936 (GRCm39)	V334L	possibly damaging	Het
Vezf1	C	A	11: 87,965,542 (GRCm39)	F261L	probably damaging	Het
Vezt	T	A	10: 93,809,874 (GRCm39)	I556L	probably benign	Het
Vmn1r172	C	T	7: 23,359,402 (GRCm39)	R96C	probably benign	Het
Zfp383	A	G	7: 29,608,070 (GRCm39)	M1V	probably null	Het
Zfp558	A	T	9: 18,367,776 (GRCm39)	S337R	possibly damaging	Het
Zranb1	T	A	7: 132,572,909 (GRCm39)		probably benign	Het

Other mutations in Ttc16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Ttc16	APN	2	32,660,259 (GRCm39)	missense	probably damaging	1.00
IGL02931:Ttc16	APN	2	32,661,939 (GRCm39)	missense	probably damaging	1.00
IGL03143:Ttc16	APN	2	32,664,457 (GRCm39)	missense	possibly damaging	0.86
IGL03206:Ttc16	APN	2	32,661,897 (GRCm39)	splice site	probably null
IGL03310:Ttc16	APN	2	32,652,409 (GRCm39)	unclassified	probably benign
P0033:Ttc16	UTSW	2	32,652,586 (GRCm39)	missense	probably benign	0.00
R0909:Ttc16	UTSW	2	32,652,880 (GRCm39)	missense	probably benign	0.08
R1085:Ttc16	UTSW	2	32,665,092 (GRCm39)	missense	possibly damaging	0.83
R1659:Ttc16	UTSW	2	32,652,547 (GRCm39)	missense	probably benign	0.15
R1752:Ttc16	UTSW	2	32,662,162 (GRCm39)	missense	probably damaging	0.96
R2408:Ttc16	UTSW	2	32,658,020 (GRCm39)	missense	probably benign	0.00
R3835:Ttc16	UTSW	2	32,659,322 (GRCm39)	missense	probably damaging	0.99
R4576:Ttc16	UTSW	2	32,660,071 (GRCm39)	missense	probably benign	0.02
R4590:Ttc16	UTSW	2	32,663,753 (GRCm39)	missense	probably damaging	1.00
R4630:Ttc16	UTSW	2	32,665,389 (GRCm39)	start gained	probably benign
R5081:Ttc16	UTSW	2	32,657,988 (GRCm39)	missense	probably damaging	1.00
R5128:Ttc16	UTSW	2	32,653,009 (GRCm39)	missense	probably benign	0.31
R5642:Ttc16	UTSW	2	32,665,348 (GRCm39)	missense	probably damaging	0.99
R5704:Ttc16	UTSW	2	32,659,137 (GRCm39)	missense	probably damaging	1.00
R6384:Ttc16	UTSW	2	32,657,561 (GRCm39)	missense	probably damaging	1.00
R6723:Ttc16	UTSW	2	32,658,049 (GRCm39)	missense	possibly damaging	0.66
R7103:Ttc16	UTSW	2	32,664,440 (GRCm39)	missense	probably benign	0.00
R7295:Ttc16	UTSW	2	32,664,437 (GRCm39)	missense	probably null	0.02
R7570:Ttc16	UTSW	2	32,658,980 (GRCm39)	missense	probably damaging	1.00
R7982:Ttc16	UTSW	2	32,665,047 (GRCm39)	intron	probably benign
R8074:Ttc16	UTSW	2	32,664,135 (GRCm39)	unclassified	probably benign
R9131:Ttc16	UTSW	2	32,659,232 (GRCm39)	missense	probably damaging	1.00
R9183:Ttc16	UTSW	2	32,647,329 (GRCm39)	missense	probably benign	0.08
R9264:Ttc16	UTSW	2	32,653,017 (GRCm39)	missense	possibly damaging	0.87
R9322:Ttc16	UTSW	2	32,664,952 (GRCm39)	intron	probably benign
R9390:Ttc16	UTSW	2	32,657,195 (GRCm39)	missense	possibly damaging	0.78
R9789:Ttc16	UTSW	2	32,664,805 (GRCm39)	critical splice donor site	probably null
Z1088:Ttc16	UTSW	2	32,659,345 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGGAGTCCCTTTGGCCATAG -3'
(R):5'- CTCAGTACTGTTTGAGCAGCG -3'

Sequencing Primer
(F):5'- CCATAGGCAGGTGTGACC -3'
(R):5'- TGAGCAGCGTCTTGTCAC -3'

Posted On

2021-10-11