Mutagenetix > Incidental Mutation

Incidental Mutation 'R5579:Skic3'

438312

Institutional Source

Beutler Lab

Gene Symbol

Skic3

Ensembl Gene

ENSMUSG00000033991

Gene Name

SKI3 subunit of superkiller complex

Synonyms

Ttc37

MMRRC Submission

043267-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.377) question?

Stock #

R5579 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76246853-76338435 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76333319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 25 (W25R)

Gene Model

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

AlphaFold

F8VPK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000091466
AA Change: W1523R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000089045
Gene: ENSMUSG00000033991
AA Change: W1523R

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

noncoding transcript
Transcript: ENSMUST00000223902

Predicted Effect

probably damaging
Transcript: ENSMUST00000224386
AA Change: W1523R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225147
AA Change: W25R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 97.0%

Validation Efficiency

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	T	17: 24,595,703 (GRCm39)	C352F	probably damaging	Het
Abce1	A	T	8: 80,427,215 (GRCm39)	I237N	possibly damaging	Het
Acrbp	A	G	6: 125,038,062 (GRCm39)	D421G	probably benign	Het
Adam8	T	A	7: 139,568,897 (GRCm39)	Y201F	probably benign	Het
Adgrf1	T	A	17: 43,621,955 (GRCm39)	C731S	probably damaging	Het
Akap8l	A	T	17: 32,540,916 (GRCm39)	I529N	probably damaging	Het
Akap9	G	A	5: 4,114,714 (GRCm39)	G114D	possibly damaging	Het
Alox12b	T	A	11: 69,053,758 (GRCm39)	D158E	probably benign	Het
Ankrd11	A	G	8: 123,610,970 (GRCm39)	S2639P	probably damaging	Het
Ankrd42	T	C	7: 92,239,390 (GRCm39)	Y466C	possibly damaging	Het
Apobr	T	C	7: 126,186,847 (GRCm39)	I786T	probably benign	Het
Arhgef12	C	T	9: 42,921,489 (GRCm39)	G329R	probably benign	Het
Btnl1	T	C	17: 34,600,526 (GRCm39)		probably null	Het
Ccdc174	A	G	6: 91,858,331 (GRCm39)		probably null	Het
Ccdc183	T	C	2: 25,505,434 (GRCm39)	D177G	possibly damaging	Het
Cd14	A	G	18: 36,859,288 (GRCm39)	Y56H	probably benign	Het
Cep162	G	A	9: 87,085,724 (GRCm39)	A1200V	probably benign	Het
Clic3	T	C	2: 25,348,319 (GRCm39)	L128P	probably damaging	Het
Cntnap5b	A	T	1: 100,311,120 (GRCm39)	R538*	probably null	Het
Cntnap5b	A	T	1: 100,311,124 (GRCm39)	Q539L	probably benign	Het
Coq7	A	T	7: 118,116,558 (GRCm39)	N214K	unknown	Het
Cramp1	G	A	17: 25,192,087 (GRCm39)	H1018Y	possibly damaging	Het
Crtac1	T	A	19: 42,293,245 (GRCm39)	D288V	probably damaging	Het
Dab2ip	C	T	2: 35,605,339 (GRCm39)	R132*	probably null	Het
Dis3l	C	A	9: 64,238,117 (GRCm39)	C125F	probably benign	Het
Dnmt1	A	T	9: 20,831,501 (GRCm39)	V543D	probably damaging	Het
Dock9	A	T	14: 121,837,107 (GRCm39)	L67Q	probably damaging	Het
Ehbp1	A	T	11: 22,087,846 (GRCm39)	S413T	probably damaging	Het
Endov	A	G	11: 119,395,923 (GRCm39)	I158V	probably benign	Het
Epb41l4b	A	G	4: 57,064,802 (GRCm39)	V469A	possibly damaging	Het
Etf1	G	A	18: 35,046,654 (GRCm39)	P119S	probably damaging	Het
Fam135a	A	G	1: 24,068,808 (GRCm39)	L491P	possibly damaging	Het
Fancd2	A	T	6: 113,537,012 (GRCm39)		probably null	Het
Fank1	T	A	7: 133,471,058 (GRCm39)		probably null	Het
Fbh1	A	G	2: 11,753,804 (GRCm39)	I846T	probably damaging	Het
Gas2l3	T	C	10: 89,249,928 (GRCm39)	T397A	probably benign	Het
Gga1	T	C	15: 78,777,388 (GRCm39)	V513A	probably damaging	Het
Ggt1	T	C	10: 75,421,782 (GRCm39)	V543A	probably damaging	Het
Gm11596	A	T	11: 99,683,717 (GRCm39)	C134*	probably null	Het
Gnal	C	T	18: 67,221,842 (GRCm39)	R82C	unknown	Het
Hat1	T	C	2: 71,240,582 (GRCm39)	V92A	possibly damaging	Het
Icosl	C	T	10: 77,909,597 (GRCm39)	R181C	probably damaging	Het
Ift46	A	G	9: 44,698,160 (GRCm39)	M208V	possibly damaging	Het
Ighv1-26	T	C	12: 114,752,219 (GRCm39)	K42E	possibly damaging	Het
Ipo5	A	G	14: 121,176,025 (GRCm39)	K617E	probably benign	Het
Irx5	A	G	8: 93,086,541 (GRCm39)	D208G	probably benign	Het
Itgal	T	G	7: 126,906,101 (GRCm39)	V397G	probably benign	Het
Itpr2	G	A	6: 146,074,864 (GRCm39)	R2297*	probably null	Het
Itpr3	A	G	17: 27,332,493 (GRCm39)	D1779G	probably damaging	Het
Khdc4	T	C	3: 88,607,582 (GRCm39)	S345P	probably benign	Het
Krt4	T	A	15: 101,829,669 (GRCm39)	E286D	probably benign	Het
Loxl4	C	T	19: 42,592,729 (GRCm39)	G317E	probably damaging	Het
Mapk6	T	G	9: 75,295,344 (GRCm39)	H718P	possibly damaging	Het
Mark2	A	C	19: 7,260,181 (GRCm39)	V14G	probably damaging	Het
Mbd5	A	G	2: 49,162,826 (GRCm39)	T1103A	possibly damaging	Het
Mcph1	A	G	8: 18,682,309 (GRCm39)	E482G	probably benign	Het
Mme	G	A	3: 63,256,066 (GRCm39)	E509K	probably damaging	Het
Mrgbp	A	G	2: 180,227,276 (GRCm39)	T204A	probably damaging	Het
Mycbp2	A	T	14: 103,528,769 (GRCm39)	F430I	probably damaging	Het
Myo6	A	G	9: 80,125,002 (GRCm39)	D27G	probably damaging	Het
Ncoa6	A	G	2: 155,248,597 (GRCm39)	L1569S	probably damaging	Het
Ndc1	T	A	4: 107,237,901 (GRCm39)	F235Y	possibly damaging	Het
Nmur2	A	T	11: 55,923,835 (GRCm39)	S240T	probably benign	Het
Or14c44	T	A	7: 86,061,934 (GRCm39)	Y121*	probably null	Het
Or52ae7	G	A	7: 103,120,121 (GRCm39)	V292M	probably damaging	Het
Or5d46	A	T	2: 88,170,757 (GRCm39)	I283F	possibly damaging	Het
Osbpl1a	G	T	18: 12,974,249 (GRCm39)	A62E	probably damaging	Het
Osbpl1a	A	C	18: 13,025,319 (GRCm39)	S333A	probably benign	Het
Otud4	C	T	8: 80,390,737 (GRCm39)	T417I	probably benign	Het
Pagr1a	T	C	7: 126,614,614 (GRCm39)	E197G	probably damaging	Het
Pcdh18	T	C	3: 49,699,426 (GRCm39)	Q1012R	probably damaging	Het
Pcdhgb5	A	C	18: 37,864,690 (GRCm39)	I162L	probably benign	Het
Pdpr	T	A	8: 111,850,448 (GRCm39)	Y462N	probably damaging	Het
Pkhd1	A	T	1: 20,593,366 (GRCm39)	H1582Q	probably damaging	Het
Polr1b	A	G	2: 128,952,028 (GRCm39)	K352R	probably damaging	Het
Poteg	G	A	8: 27,938,065 (GRCm39)	V12M	probably damaging	Het
Pou2f1	A	C	1: 165,742,731 (GRCm39)	V54G	probably damaging	Het
Ppme1	A	G	7: 99,994,182 (GRCm39)	L177P	probably damaging	Het
Prkce	A	G	17: 86,927,376 (GRCm39)	D550G	probably damaging	Het
Prrc2c	A	G	1: 162,508,327 (GRCm39)		probably null	Het
Ptpn22	A	G	3: 103,789,455 (GRCm39)		probably null	Het
Rabif	G	A	1: 134,433,943 (GRCm39)	V86M	probably damaging	Het
Rbm25	T	A	12: 83,715,281 (GRCm39)	M484K	probably benign	Het
Rcn2	G	A	9: 55,964,713 (GRCm39)	A224T	probably benign	Het
Rexo5	T	A	7: 119,433,626 (GRCm39)		probably null	Het
Rnase1	A	T	14: 51,383,219 (GRCm39)	I45N	probably benign	Het
Rnmt	T	A	18: 68,439,186 (GRCm39)	D98E	possibly damaging	Het
Rprd2	A	G	3: 95,692,371 (GRCm39)	F188L	probably damaging	Het
Scube2	G	A	7: 109,409,944 (GRCm39)	T643M	probably damaging	Het
Slc7a15	T	C	12: 8,589,344 (GRCm39)	I68V	probably benign	Het
Slco1a5	A	T	6: 142,187,851 (GRCm39)	V496D	possibly damaging	Het
Slitrk6	T	G	14: 110,988,649 (GRCm39)	S353R	possibly damaging	Het
Smpd5	T	A	15: 76,179,325 (GRCm39)	I53K	possibly damaging	Het
Tas2r108	T	C	6: 40,471,021 (GRCm39)	S166P	probably benign	Het
Tcstv7a	T	A	13: 120,289,951 (GRCm39)	M82L	probably benign	Het
Tecpr1	C	A	5: 144,151,162 (GRCm39)	V245L	possibly damaging	Het
Tenm3	G	T	8: 48,689,799 (GRCm39)	N1929K	probably damaging	Het
Tigd5	T	G	15: 75,782,874 (GRCm39)	F412C	probably damaging	Het
Timm17a	A	T	1: 135,233,926 (GRCm39)	S74T	possibly damaging	Het
Tle1	A	T	4: 72,058,045 (GRCm39)	L60Q	probably damaging	Het
Tmem132d	T	C	5: 127,873,064 (GRCm39)	E515G	possibly damaging	Het
Tmem65	T	C	15: 58,666,246 (GRCm39)	N115S	probably benign	Het
Trmt5	C	A	12: 73,328,426 (GRCm39)	R259L	possibly damaging	Het
Trmt9b	T	C	8: 36,979,195 (GRCm39)	V266A	probably benign	Het
Vmn2r50	A	T	7: 9,784,016 (GRCm39)	W153R	probably benign	Het
Vwa3a	T	G	7: 120,367,396 (GRCm39)	S184A	probably benign	Het
Zbtb25	A	G	12: 76,395,938 (GRCm39)	L428P	possibly damaging	Het
Zbtb49	C	T	5: 38,358,160 (GRCm39)	D698N	probably damaging	Het
Zbtb8os	T	G	4: 129,234,528 (GRCm39)	D35E	probably damaging	Het
Zfp316	T	C	5: 143,250,246 (GRCm39)	T56A	unknown	Het
Zfp334	A	T	2: 165,222,407 (GRCm39)	C545*	probably null	Het
Zmiz1	C	A	14: 25,645,280 (GRCm39)	S247R	probably damaging	Het
Zscan18	A	G	7: 12,509,308 (GRCm39)		probably benign	Het
Zzef1	T	C	11: 72,791,463 (GRCm39)	V2189A	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
R1923:Skic3	UTSW	13	76,282,889 (GRCm39)	missense	probably damaging	1.00
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
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'- CATGTGTAACATAGTACCATGTACC -3'
(R):5'- ACAGATGCACCATTAACTGTGG -3'

Sequencing Primer
(F):5'- AGCAATTTCCTCCCACCCC -3'
(R):5'- GTGGTATTTTACCAAAGAACTTG -3'

Posted On

2016-10-26