Mutagenetix > Incidental Mutation

Incidental Mutation 'R3797:Skida1'

272786

Institutional Source

Beutler Lab

Gene Symbol

Skida1

Ensembl Gene

ENSMUSG00000054074

Gene Name

SKI/DACH domain containing 1

Synonyms

5730507N06Rik, 2810030E01Rik

MMRRC Submission

040758-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R3797 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18048510-18053627 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 18050708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 815 (E815*)

Ref Sequence

ENSEMBL: ENSMUSP00000088982 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066885] [ENSMUST00000091420] [ENSMUST00000142856] [ENSMUST00000152908]

AlphaFold

Q80YR3

Predicted Effect

probably null
Transcript: ENSMUST00000066885
AA Change: E728*

SMART Domains

Protein: ENSMUSP00000068520
Gene: ENSMUSG00000054074
AA Change: E728*

Domain	Start	End	E-Value	Type
Pfam:Ski_Sno	5	98	4.1e-19	PFAM
low complexity region	116	130	N/A	INTRINSIC
low complexity region	152	167	N/A	INTRINSIC
low complexity region	262	279	N/A	INTRINSIC
low complexity region	282	297	N/A	INTRINSIC
coiled coil region	315	337	N/A	INTRINSIC
Pfam:DUF4584	383	820	9.7e-162	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000091420
AA Change: E815*

SMART Domains

Protein: ENSMUSP00000088982
Gene: ENSMUSG00000054074
AA Change: E815*

Domain	Start	End	E-Value	Type
Pfam:Ski_Sno	5	97	7.7e-17	PFAM
low complexity region	116	130	N/A	INTRINSIC
low complexity region	152	167	N/A	INTRINSIC
SCOP:d1gkub1	224	254	3e-3	SMART
SCOP:d1gkub1	296	321	6e-3	SMART
low complexity region	349	366	N/A	INTRINSIC
low complexity region	369	384	N/A	INTRINSIC
coiled coil region	402	424	N/A	INTRINSIC
Pfam:DUF4584	471	907	7.7e-179	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142856

SMART Domains

Protein: ENSMUSP00000122112
Gene: ENSMUSG00000054074

Domain	Start	End	E-Value	Type
Pfam:Ski_Sno	5	98	4.4e-20	PFAM
low complexity region	116	130	N/A	INTRINSIC
low complexity region	152	167	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152908

SMART Domains

Protein: ENSMUSP00000114785
Gene: ENSMUSG00000054074

Domain	Start	End	E-Value	Type
Pfam:Ski_Sno	5	65	2.8e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173604

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	T	C	5: 30,401,821 (GRCm39)	I736V	possibly damaging	Het
Alpk3	C	A	7: 80,742,501 (GRCm39)	P773T	probably benign	Het
B4galt1	G	A	4: 40,807,258 (GRCm39)	T376I	probably benign	Het
Basp1	C	A	15: 25,364,398 (GRCm39)		probably benign	Het
Capn5	C	T	7: 97,775,036 (GRCm39)	G535R	probably null	Het
Ccdc170	G	A	10: 4,510,920 (GRCm39)	V660I	possibly damaging	Het
Cdc73	A	T	1: 143,553,461 (GRCm39)	D215E	probably benign	Het
Clec14a	G	A	12: 58,314,695 (GRCm39)	A309V	probably benign	Het
Clns1a	G	A	7: 97,346,042 (GRCm39)	G36R	probably benign	Het
Cops7a	C	T	6: 124,936,795 (GRCm39)	R252H	probably damaging	Het
Csmd2	C	T	4: 128,411,388 (GRCm39)	P2469S	probably benign	Het
Dsp	T	A	13: 38,361,260 (GRCm39)		probably null	Het
Eif3d	A	G	15: 77,852,769 (GRCm39)	F4S	probably damaging	Het
Ephb1	T	C	9: 101,848,466 (GRCm39)	T611A	probably damaging	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Fgfr1	G	A	8: 26,062,453 (GRCm39)	D663N	probably damaging	Het
Gm5592	G	A	7: 40,807,259 (GRCm39)		probably benign	Het
Itgb8	T	C	12: 119,127,204 (GRCm39)	I683M	possibly damaging	Het
Kcnip3	A	G	2: 127,323,934 (GRCm39)	S32P	probably benign	Het
Limch1	A	G	5: 67,126,422 (GRCm39)	T8A	probably damaging	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Ltbp1	A	G	17: 75,669,625 (GRCm39)	Q1455R	probably damaging	Het
Mtarc2	T	C	1: 184,573,505 (GRCm39)	E131G	possibly damaging	Het
Or51v14	C	T	7: 103,260,654 (GRCm39)	R302Q	probably benign	Het
Pak5	T	C	2: 135,942,746 (GRCm39)	I465V	probably benign	Het
Pcdhgb8	T	C	18: 37,895,728 (GRCm39)	I266T	probably benign	Het
Pde4d	T	C	13: 109,769,431 (GRCm39)	S40P	probably benign	Het
Phrf1	C	T	7: 140,839,831 (GRCm39)	R243*	probably null	Het
Polk	A	T	13: 96,623,490 (GRCm39)		probably benign	Het
Ppl	T	C	16: 4,922,414 (GRCm39)		probably benign	Het
Rab11fip3	A	G	17: 26,287,500 (GRCm39)	C218R	possibly damaging	Het
Setd2	T	C	9: 110,378,639 (GRCm39)	V818A	probably benign	Het
Slc35g3	A	G	11: 69,651,743 (GRCm39)	F103L	probably benign	Het
Svil	T	A	18: 5,060,534 (GRCm39)	C802S	probably benign	Het
Trim7	A	G	11: 48,736,497 (GRCm39)		probably null	Het
Ugt3a1	G	A	15: 9,310,727 (GRCm39)	W336*	probably null	Het
Vmn2r72	T	C	7: 85,387,285 (GRCm39)	S760G	probably benign	Het
Vps13a	T	C	19: 16,723,311 (GRCm39)		probably null	Het
Wdfy4	A	T	14: 32,862,602 (GRCm39)	I590N	probably damaging	Het
Xdh	T	C	17: 74,214,653 (GRCm39)	E764G	probably damaging	Het
Xpnpep1	A	T	19: 52,994,773 (GRCm39)	V285D	probably benign	Het
Zfp934	T	C	13: 62,665,702 (GRCm39)	K313R	probably benign	Het

Other mutations in Skida1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02315:Skida1	APN	2	18,050,816 (GRCm39)	unclassified	probably benign
IGL03220:Skida1	APN	2	18,052,972 (GRCm39)	missense	probably damaging	1.00
R0328:Skida1	UTSW	2	18,051,997 (GRCm39)	unclassified	probably benign
R0732:Skida1	UTSW	2	18,050,968 (GRCm39)	unclassified	probably benign
R1239:Skida1	UTSW	2	18,052,128 (GRCm39)	unclassified	probably benign
R1346:Skida1	UTSW	2	18,053,090 (GRCm39)	missense	possibly damaging	0.92
R1597:Skida1	UTSW	2	18,051,143 (GRCm39)	unclassified	probably benign
R1867:Skida1	UTSW	2	18,051,155 (GRCm39)	unclassified	probably benign
R4521:Skida1	UTSW	2	18,050,683 (GRCm39)	unclassified	probably benign
R5270:Skida1	UTSW	2	18,052,460 (GRCm39)	missense	probably benign	0.03
R5467:Skida1	UTSW	2	18,050,923 (GRCm39)	unclassified	probably benign
R5890:Skida1	UTSW	2	18,050,814 (GRCm39)	unclassified	probably benign
R7181:Skida1	UTSW	2	18,051,602 (GRCm39)	missense	unknown
R7398:Skida1	UTSW	2	18,051,083 (GRCm39)	missense	unknown
R8103:Skida1	UTSW	2	18,052,549 (GRCm39)	missense	probably benign	0.01
R8199:Skida1	UTSW	2	18,052,959 (GRCm39)	missense	probably damaging	1.00
R8427:Skida1	UTSW	2	18,051,402 (GRCm39)	missense	unknown
R9178:Skida1	UTSW	2	18,050,489 (GRCm39)	nonsense	probably null
R9295:Skida1	UTSW	2	18,051,386 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGTGTTTAAGGAATACGCTGGC -3'
(R):5'- ATGCCCTGAGAAAGAAACGC -3'

Sequencing Primer
(F):5'- TTTAAGGAATACGCTGGCCACAAATC -3'
(R):5'- TTAAATCCACTGGCTCAGAGTC -3'

Posted On

2015-03-25