Mutagenetix > Incidental Mutation

Incidental Mutation 'R0928:Skic3'

80684

Institutional Source

Beutler Lab

Gene Symbol

Skic3

Ensembl Gene

ENSMUSG00000033991

Gene Name

SKI3 subunit of superkiller complex

Synonyms

Ttc37

Accession Numbers

Essential gene?

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

Stock #

R0928 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76246853-76338435 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 76261711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Tryptophan at position 142 (L142W)

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: L142W

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

SMART Domains

Protein: ENSMUSP00000089045
Gene: ENSMUSG00000033991
AA Change: L142W

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: L142W

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

Predicted Effect

unknown
Transcript: ENSMUST00000224790
AA Change: L8W

Coding Region Coverage

1x: 99.2%
3x: 98.1%
10x: 93.0%
20x: 75.6%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,388,333 (GRCm39)	D179V	probably benign	Het
Abcc1	T	C	16: 14,207,849 (GRCm39)		probably null	Het
Adad1	G	A	3: 37,130,889 (GRCm39)		probably null	Het
Apobec4	T	C	1: 152,632,028 (GRCm39)	Y19H	probably damaging	Het
Bco2	T	A	9: 50,457,231 (GRCm39)	T104S	probably damaging	Het
Bnc1	A	G	7: 81,623,250 (GRCm39)	V659A	probably benign	Het
Ccdc168	C	A	1: 44,096,388 (GRCm39)	S1570I	possibly damaging	Het
Ccs	T	C	19: 4,875,988 (GRCm39)	E184G	probably damaging	Het
Cfap70	T	G	14: 20,493,987 (GRCm39)	K97N	probably damaging	Het
Cracdl	T	C	1: 37,663,663 (GRCm39)	D745G	possibly damaging	Het
Daam2	T	C	17: 49,795,255 (GRCm39)	I313V	probably benign	Het
Dach1	T	C	14: 98,153,268 (GRCm39)	S467G	probably damaging	Het
Dnah11	A	G	12: 118,009,297 (GRCm39)	S2122P	probably damaging	Het
Dnah3	T	A	7: 119,629,274 (GRCm39)	D1427V	probably damaging	Het
Dnai1	T	C	4: 41,602,566 (GRCm39)	F97L	possibly damaging	Het
Dsc1	A	T	18: 20,243,306 (GRCm39)		probably null	Het
En2	A	T	5: 28,375,329 (GRCm39)	K291*	probably null	Het
Eps15	T	C	4: 109,170,160 (GRCm39)	V154A	possibly damaging	Het
Etnk1	A	G	6: 143,130,429 (GRCm39)	I183V	probably benign	Het
Fcrlb	A	T	1: 170,735,509 (GRCm39)	V255D	possibly damaging	Het
Fry	A	T	5: 150,360,549 (GRCm39)	E52V	probably damaging	Het
Garre1	A	T	7: 33,947,671 (GRCm39)		probably null	Het
Gm57858	A	C	3: 36,079,515 (GRCm39)	N258K	possibly damaging	Het
Gtf2h4	T	C	17: 35,981,777 (GRCm39)	Y152C	probably damaging	Het
Hao1	C	A	2: 134,347,536 (GRCm39)	L256F	possibly damaging	Het
Helz	T	A	11: 107,517,519 (GRCm39)	I685K	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Izumo2	A	T	7: 44,364,847 (GRCm39)	I171F	possibly damaging	Het
Krt87	C	A	15: 101,389,161 (GRCm39)	C57F	probably benign	Het
Mapkbp1	A	G	2: 119,845,849 (GRCm39)	H400R	probably benign	Het
Megf6	T	A	4: 154,261,504 (GRCm39)	V43E	probably damaging	Het
Mmut	T	C	17: 41,248,174 (GRCm39)	I67T	probably benign	Het
Ninl	A	T	2: 150,805,395 (GRCm39)	V396E	probably damaging	Het
Nvl	A	T	1: 180,921,467 (GRCm39)	V844E	probably benign	Het
Or2b6	C	T	13: 21,823,126 (GRCm39)	C189Y	probably damaging	Het
P2rx3	A	T	2: 84,865,642 (GRCm39)	M1K	probably null	Het
Pabpn1l	T	C	8: 123,349,358 (GRCm39)	T20A	probably benign	Het
Ppp3r2	C	A	4: 49,681,439 (GRCm39)		probably null	Het
Prmt6	C	T	3: 110,157,998 (GRCm39)	G97D	probably damaging	Het
Prmt9	T	C	8: 78,307,805 (GRCm39)	V823A	probably damaging	Het
Skint11	C	A	4: 114,101,798 (GRCm39)	D79E	possibly damaging	Het
Slc17a8	T	A	10: 89,434,545 (GRCm39)	H194L	probably damaging	Het
Slco6c1	T	A	1: 97,032,573 (GRCm39)	I293F	possibly damaging	Het
Tcl1b4	A	T	12: 105,168,865 (GRCm39)	H43L	probably benign	Het
Tm9sf1	T	C	14: 55,873,914 (GRCm39)	D528G	probably damaging	Het
Tpbpb	C	T	13: 61,049,989 (GRCm39)	V47I	probably benign	Het
Ttn	G	T	2: 76,737,876 (GRCm39)		probably benign	Het
Usp28	T	G	9: 48,942,191 (GRCm39)	S341A	possibly damaging	Het
Vwa5a	T	C	9: 38,639,303 (GRCm39)	Y345H	probably damaging	Het
Wdr11	C	A	7: 129,208,377 (GRCm39)	D377E	probably damaging	Het
Zer1	A	G	2: 29,991,775 (GRCm39)		probably null	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
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
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'- ACACCTAGAGGTGAGCTAGTGACG -3'
(R):5'- TGTGCAGACACACAAGACTTTCCTG -3'

Sequencing Primer
(F):5'- TACTTGTGGAGCTTAGAAAGCC -3'
(R):5'- ACACAAGACTTTCCTGTGTCC -3'

Posted On

2013-11-07