Mutagenetix > Incidental Mutation

Incidental Mutation 'R1923:Skic3'

213236

Institutional Source

Beutler Lab

Gene Symbol

Skic3

Ensembl Gene

ENSMUSG00000033991

Gene Name

SKI3 subunit of superkiller complex

Synonyms

Ttc37

MMRRC Submission

039941-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.406) question?

Stock #

R1923 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76246853-76338435 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76282889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 737 (V737D)

Ref Sequence

ENSEMBL: ENSMUSP00000153521 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091466] [ENSMUST00000224386]

AlphaFold

F8VPK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000091466
AA Change: V737D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000089045
Gene: ENSMUSG00000033991
AA Change: V737D

Domain	Start	End	E-Value	Type
TPR	6	39	2.92e1	SMART
TPR	40	73	1.1e-1	SMART
TPR	272	305	9.45e0	SMART
TPR	306	339	8.9e-2	SMART
SEL1	420	451	1.45e2	SMART
TPR	420	453	2.55e-2	SMART
SEL1	454	490	1.15e1	SMART
TPR	454	492	2.84e1	SMART
TPR	493	527	1.92e1	SMART
TPR	564	597	7.34e-3	SMART
TPR	598	631	1.81e-2	SMART
TPR	632	665	2.43e1	SMART
low complexity region	728	739	N/A	INTRINSIC
SEL1	861	892	3.58e1	SMART
TPR	861	894	2.14e-4	SMART
TPR	980	1013	1.56e1	SMART
Blast:TPR	1051	1084	7e-11	BLAST
Blast:TPR	1088	1121	7e-10	BLAST
TPR	1399	1432	4.31e0	SMART
low complexity region	1438	1450	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000224386
AA Change: V737D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224914

Predicted Effect

probably benign
Transcript: ENSMUST00000225220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225341

Meta Mutation Damage Score

0.4359

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (52/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with twenty tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Mutations in this gene are associated with trichohepatoenteric syndrome. [provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 78,903,743 (GRCm39)	E163G	probably damaging	Het
4921513D11Rik	A	G	17: 79,935,562 (GRCm39)		probably benign	Het
Acox3	T	A	5: 35,749,459 (GRCm39)	F195I	possibly damaging	Het
Acsl6	T	C	11: 54,216,417 (GRCm39)	Y135H	probably damaging	Het
Ankhd1	C	A	18: 36,781,083 (GRCm39)	A2045E	probably benign	Het
Ap5z1	A	G	5: 142,458,096 (GRCm39)	H423R	probably benign	Het
Arsk	T	A	13: 76,214,985 (GRCm39)		probably benign	Het
Bpi	G	A	2: 158,103,083 (GRCm39)	G76D	probably damaging	Het
Carmil3	A	G	14: 55,739,861 (GRCm39)	T983A	probably damaging	Het
Ccdc192	A	T	18: 57,666,959 (GRCm39)	D12V	probably damaging	Het
Chmp2b	A	T	16: 65,342,213 (GRCm39)	M125K	possibly damaging	Het
Clca3a2	T	A	3: 144,511,491 (GRCm39)	I26L	probably damaging	Het
Cubn	T	C	2: 13,315,337 (GRCm39)	Y3032C	probably damaging	Het
Ehbp1	T	A	11: 22,101,850 (GRCm39)	D226V	probably damaging	Het
Enpp6	A	T	8: 47,535,541 (GRCm39)	D362V	probably damaging	Het
Fam53b	A	G	7: 132,317,521 (GRCm39)	S374P	probably damaging	Het
Fmn1	T	C	2: 113,260,066 (GRCm39)		probably benign	Het
Fndc7	C	T	3: 108,784,003 (GRCm39)	R202H	probably benign	Het
Frmd4b	T	G	6: 97,265,415 (GRCm39)	D951A	probably benign	Het
Git2	A	G	5: 114,877,162 (GRCm39)	Y107H	probably damaging	Het
Gm11595	A	T	11: 99,663,365 (GRCm39)	V105E	unknown	Het
Krt26	CTAGTA	CTA	11: 99,224,352 (GRCm39)		probably benign	Het
Lrriq4	C	A	3: 30,713,242 (GRCm39)	Q448K	probably benign	Het
Ly6g5c	A	G	17: 35,330,863 (GRCm39)	I128M	possibly damaging	Het
Mroh9	T	A	1: 162,903,860 (GRCm39)	S51C	probably damaging	Het
Myh3	A	G	11: 66,970,828 (GRCm39)	S2G	probably benign	Het
Nat8f4	A	G	6: 85,878,497 (GRCm39)	Y9H	probably damaging	Het
Negr1	T	C	3: 156,267,836 (GRCm39)	V2A	probably benign	Het
Or2y1	C	T	11: 49,386,131 (GRCm39)	T257I	probably damaging	Het
Or7g19	C	T	9: 18,856,781 (GRCm39)	T279I	probably benign	Het
Or8k32	T	G	2: 86,368,857 (GRCm39)	Y132S	probably damaging	Het
Otog	G	A	7: 45,895,707 (GRCm39)	C107Y	probably damaging	Het
Pdgfra	C	A	5: 75,324,394 (GRCm39)	T83K	probably benign	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Retreg1	A	G	15: 25,969,924 (GRCm39)	D109G	probably damaging	Het
Rgs12	T	A	5: 35,189,613 (GRCm39)	W674R	probably damaging	Het
Rgs18	T	C	1: 144,631,818 (GRCm39)	D98G	possibly damaging	Het
Rnf146	A	G	10: 29,223,715 (GRCm39)	F57S	probably damaging	Het
Slc22a20	C	A	19: 6,021,464 (GRCm39)	V513L	probably benign	Het
Stox2	G	T	8: 47,646,661 (GRCm39)	F266L	probably damaging	Het
Tbx21	C	T	11: 96,990,863 (GRCm39)	V272M	probably damaging	Het
Tmc7	A	G	7: 118,144,850 (GRCm39)	F570S	probably benign	Het
Tmem236	T	C	2: 14,224,117 (GRCm39)	I302T	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpm3	T	C	19: 22,862,776 (GRCm39)	L506S	probably damaging	Het
Uggt1	T	C	1: 36,218,694 (GRCm39)	I78V	probably damaging	Het
Xpo4	A	T	14: 57,828,328 (GRCm39)	V844D	probably damaging	Het
Zfp507	C	T	7: 35,493,150 (GRCm39)	R631Q	probably damaging	Het

Other mutations in Skic3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Skic3	APN	13	76,291,397 (GRCm39)	critical splice donor site	probably null
IGL00650:Skic3	APN	13	76,275,626 (GRCm39)	missense	possibly damaging	0.89
IGL00838:Skic3	APN	13	76,282,910 (GRCm39)	missense	probably damaging	0.99
IGL00958:Skic3	APN	13	76,270,864 (GRCm39)	missense	probably damaging	0.98
IGL01011:Skic3	APN	13	76,270,784 (GRCm39)	missense	probably damaging	0.97
IGL01062:Skic3	APN	13	76,303,581 (GRCm39)	nonsense	probably null
IGL01319:Skic3	APN	13	76,277,498 (GRCm39)	missense	probably benign	0.29
IGL01697:Skic3	APN	13	76,276,852 (GRCm39)	missense	probably benign	0.01
IGL02061:Skic3	APN	13	76,277,660 (GRCm39)	critical splice donor site	probably null
IGL02184:Skic3	APN	13	76,259,810 (GRCm39)	missense	probably damaging	1.00
IGL02309:Skic3	APN	13	76,275,166 (GRCm39)	missense	possibly damaging	0.90
IGL03230:Skic3	APN	13	76,303,766 (GRCm39)	splice site	probably benign
IGL03354:Skic3	APN	13	76,330,941 (GRCm39)	missense	possibly damaging	0.71
caviar	UTSW	13	76,295,886 (GRCm39)	missense	possibly damaging	0.54
gourmet	UTSW	13	76,298,638 (GRCm39)	missense	probably damaging	1.00
tartare	UTSW	13	76,333,298 (GRCm39)	missense	probably damaging	0.96
R0501:Skic3	UTSW	13	76,295,925 (GRCm39)	missense	probably benign
R0628:Skic3	UTSW	13	76,298,848 (GRCm39)	missense	possibly damaging	0.89
R0711:Skic3	UTSW	13	76,331,010 (GRCm39)	missense	probably damaging	1.00
R0928:Skic3	UTSW	13	76,261,711 (GRCm39)	missense	probably damaging	1.00
R1402:Skic3	UTSW	13	76,279,533 (GRCm39)	missense	probably damaging	1.00
R1402:Skic3	UTSW	13	76,279,533 (GRCm39)	missense	probably damaging	1.00
R1524:Skic3	UTSW	13	76,286,491 (GRCm39)	missense	probably benign	0.01
R1628:Skic3	UTSW	13	76,259,910 (GRCm39)	missense	possibly damaging	0.75
R1702:Skic3	UTSW	13	76,270,862 (GRCm39)	missense	possibly damaging	0.66
R1750:Skic3	UTSW	13	76,288,720 (GRCm39)	missense	possibly damaging	0.89
R1822:Skic3	UTSW	13	76,278,407 (GRCm39)	missense	probably benign	0.35
R1885:Skic3	UTSW	13	76,278,354 (GRCm39)	missense	probably benign	0.11
R1885:Skic3	UTSW	13	76,261,166 (GRCm39)	missense	probably benign	0.00
R1978:Skic3	UTSW	13	76,282,934 (GRCm39)	missense	probably benign	0.00
R2040:Skic3	UTSW	13	76,328,222 (GRCm39)	missense	probably damaging	1.00
R2136:Skic3	UTSW	13	76,321,473 (GRCm39)	missense	possibly damaging	0.87
R2268:Skic3	UTSW	13	76,260,393 (GRCm39)	unclassified	probably benign
R2483:Skic3	UTSW	13	76,330,986 (GRCm39)	missense	probably damaging	1.00
R2988:Skic3	UTSW	13	76,303,808 (GRCm39)	missense	probably benign	0.11
R3701:Skic3	UTSW	13	76,261,798 (GRCm39)	missense	probably benign
R3951:Skic3	UTSW	13	76,278,338 (GRCm39)	missense	probably damaging	1.00
R4405:Skic3	UTSW	13	76,303,784 (GRCm39)	missense	probably damaging	0.97
R4411:Skic3	UTSW	13	76,275,623 (GRCm39)	missense	possibly damaging	0.89
R4957:Skic3	UTSW	13	76,333,232 (GRCm39)	splice site	probably null
R4960:Skic3	UTSW	13	76,333,275 (GRCm39)	missense	possibly damaging	0.95
R4993:Skic3	UTSW	13	76,331,055 (GRCm39)	missense	probably damaging	0.96
R5206:Skic3	UTSW	13	76,295,886 (GRCm39)	missense	possibly damaging	0.54
R5208:Skic3	UTSW	13	76,295,886 (GRCm39)	missense	possibly damaging	0.54
R5302:Skic3	UTSW	13	76,295,886 (GRCm39)	missense	possibly damaging	0.54
R5305:Skic3	UTSW	13	76,295,886 (GRCm39)	missense	possibly damaging	0.54
R5306:Skic3	UTSW	13	76,295,886 (GRCm39)	missense	possibly damaging	0.54
R5579:Skic3	UTSW	13	76,333,319 (GRCm39)	missense	probably damaging	1.00
R5618:Skic3	UTSW	13	76,321,545 (GRCm39)	missense	probably benign
R5726:Skic3	UTSW	13	76,266,466 (GRCm39)	missense	probably damaging	1.00
R5813:Skic3	UTSW	13	76,303,852 (GRCm39)	missense	probably benign	0.05
R5899:Skic3	UTSW	13	76,259,938 (GRCm39)	splice site	probably null
R6146:Skic3	UTSW	13	76,333,359 (GRCm39)	missense	probably damaging	1.00
R6224:Skic3	UTSW	13	76,266,410 (GRCm39)	missense	probably benign	0.02
R6286:Skic3	UTSW	13	76,291,359 (GRCm39)	missense	probably damaging	1.00
R6402:Skic3	UTSW	13	76,283,389 (GRCm39)	missense	probably benign	0.05
R6561:Skic3	UTSW	13	76,298,638 (GRCm39)	missense	probably damaging	1.00
R6808:Skic3	UTSW	13	76,333,298 (GRCm39)	missense	probably damaging	0.96
R7054:Skic3	UTSW	13	76,283,079 (GRCm39)	missense	probably damaging	1.00
R7261:Skic3	UTSW	13	76,261,698 (GRCm39)	missense	probably benign	0.30
R7267:Skic3	UTSW	13	76,328,196 (GRCm39)	missense	probably benign	0.15
R7348:Skic3	UTSW	13	76,331,003 (GRCm39)	missense	possibly damaging	0.82
R7384:Skic3	UTSW	13	76,298,854 (GRCm39)	missense	possibly damaging	0.53
R7404:Skic3	UTSW	13	76,296,866 (GRCm39)	nonsense	probably null
R7421:Skic3	UTSW	13	76,296,944 (GRCm39)	missense	probably benign	0.12
R7546:Skic3	UTSW	13	76,282,954 (GRCm39)	missense	probably damaging	1.00
R7771:Skic3	UTSW	13	76,283,149 (GRCm39)	missense	probably benign	0.21
R7960:Skic3	UTSW	13	76,260,318 (GRCm39)	missense	probably benign	0.03
R8125:Skic3	UTSW	13	76,278,446 (GRCm39)	critical splice donor site	probably null
R8136:Skic3	UTSW	13	76,261,222 (GRCm39)	missense	probably benign	0.00
R8680:Skic3	UTSW	13	76,303,587 (GRCm39)	missense	probably benign	0.01
R8697:Skic3	UTSW	13	76,328,274 (GRCm39)	missense	probably damaging	1.00
R8867:Skic3	UTSW	13	76,279,428 (GRCm39)	missense	probably damaging	0.99
R8872:Skic3	UTSW	13	76,333,326 (GRCm39)	missense	probably damaging	1.00
R8876:Skic3	UTSW	13	76,323,403 (GRCm39)	missense	probably benign	0.12
R8912:Skic3	UTSW	13	76,305,361 (GRCm39)	splice site	probably benign
R9174:Skic3	UTSW	13	76,295,893 (GRCm39)	missense	probably benign	0.00
R9334:Skic3	UTSW	13	76,281,076 (GRCm39)	missense	possibly damaging	0.65
R9389:Skic3	UTSW	13	76,275,158 (GRCm39)	missense	probably benign	0.02
R9422:Skic3	UTSW	13	76,278,447 (GRCm39)	splice site	probably benign
R9443:Skic3	UTSW	13	76,266,288 (GRCm39)	missense	probably benign	0.01
R9545:Skic3	UTSW	13	76,259,832 (GRCm39)	missense	probably damaging	1.00
R9596:Skic3	UTSW	13	76,330,968 (GRCm39)	missense	possibly damaging	0.64
X0067:Skic3	UTSW	13	76,281,052 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GGTCAGGACTGCATATAGGC -3'
(R):5'- ATGCTGCTGCCTGTTTCAG -3'

Sequencing Primer
(F):5'- GGCCTTCTGTTCTAAGGATACAAAG -3'
(R):5'- CCAAGATCACACCATGTATTAGATG -3'

Posted On

2014-07-14