Mutagenetix > Incidental Mutation

Incidental Mutation 'R5270:Skida1'

400158

Institutional Source

Beutler Lab

Gene Symbol

Skida1

Ensembl Gene

ENSMUSG00000054074

Gene Name

SKI/DACH domain containing 1

Synonyms

5730507N06Rik, 2810030E01Rik

MMRRC Submission

042835-MU

Accession Numbers

Essential gene?

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

Stock #

R5270 (G1)

Quality Score

122

Status

Validated

Chromosome

Chromosomal Location

18048510-18053627 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 18052460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 231 (A231S)

Ref Sequence

ENSEMBL: ENSMUSP00000088982 (fasta)

Gene Model

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

AlphaFold

Q80YR3

Predicted Effect

probably benign
Transcript: ENSMUST00000066885

SMART Domains

Protein: ENSMUSP00000068520
Gene: ENSMUSG00000054074

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 benign
Transcript: ENSMUST00000091420
AA Change: A231S

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000088982
Gene: ENSMUSG00000054074
AA Change: A231S

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

0.0738

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.6%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,282,650 (GRCm39)	V585A	possibly damaging	Het
Adam6a	A	T	12: 113,507,747 (GRCm39)	H40L	possibly damaging	Het
Adamts20	G	A	15: 94,180,400 (GRCm39)	P1752S	probably benign	Het
Atp5if1	A	G	4: 132,260,611 (GRCm39)	F27L	probably damaging	Het
B230104I21Rik	A	G	4: 154,434,050 (GRCm39)		probably benign	Het
Ciz1	C	A	2: 32,264,511 (GRCm39)		probably null	Het
Crb1	T	A	1: 139,164,602 (GRCm39)	Y1174F	probably damaging	Het
Csf2rb2	A	T	15: 78,176,182 (GRCm39)		probably null	Het
Cyp3a25	A	T	5: 145,918,312 (GRCm39)	M433K	probably benign	Het
Dock4	A	G	12: 40,783,270 (GRCm39)	I735V	probably benign	Het
Dpp6	C	T	5: 27,839,532 (GRCm39)	S349L	probably damaging	Het
Epg5	T	A	18: 78,026,778 (GRCm39)	N1256K	possibly damaging	Het
Epha4	A	G	1: 77,483,244 (GRCm39)	V255A	probably damaging	Het
Gabrb1	A	T	5: 72,265,669 (GRCm39)	D155V	probably damaging	Het
Gpr35	A	T	1: 92,910,299 (GRCm39)	T4S	probably benign	Het
Hcrt	T	C	11: 100,652,823 (GRCm39)	T64A	probably damaging	Het
Henmt1	G	A	3: 108,867,530 (GRCm39)	R355H	probably benign	Het
Hrh1	C	A	6: 114,458,179 (GRCm39)	R487S	possibly damaging	Het
Ints2	T	C	11: 86,106,621 (GRCm39)	S930G	probably damaging	Het
Irs2	G	A	8: 11,056,678 (GRCm39)	Q585*	probably null	Het
Kcns1	C	A	2: 164,010,249 (GRCm39)	R170L	probably benign	Het
Kdm3b	T	C	18: 34,960,467 (GRCm39)	S1351P	probably damaging	Het
Ly9	T	C	1: 171,428,730 (GRCm39)	T297A	probably damaging	Het
M6pr	G	A	6: 122,292,048 (GRCm39)	D127N	possibly damaging	Het
Macir	T	C	1: 97,573,720 (GRCm39)	Q115R	probably damaging	Het
Nhsl3	T	C	4: 129,118,005 (GRCm39)	T208A	possibly damaging	Het
Nit2	G	A	16: 56,977,494 (GRCm39)	P179S	probably damaging	Het
Per1	T	C	11: 68,994,424 (GRCm39)	M516T	probably benign	Het
Pkdrej	A	T	15: 85,702,528 (GRCm39)	I1136N	probably damaging	Het
Pramel27	A	G	4: 143,578,468 (GRCm39)	M243V	probably damaging	Het
Prdm9	G	T	17: 15,773,625 (GRCm39)	T257K	probably benign	Het
Prkdc	T	C	16: 15,552,819 (GRCm39)	L2085P	probably damaging	Het
Rasgrf1	A	C	9: 89,908,747 (GRCm39)	E1240D	probably benign	Het
Rrh	T	C	3: 129,606,998 (GRCm39)	I142V	probably benign	Het
Saal1	G	T	7: 46,351,157 (GRCm39)		probably benign	Het
Sdcbp2	A	G	2: 151,426,812 (GRCm39)	I70V	probably benign	Het
Smtnl2	T	A	11: 72,290,743 (GRCm39)	T401S	probably benign	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Spag4	G	T	2: 155,907,853 (GRCm39)		probably benign	Het
Tbc1d9	A	G	8: 83,960,283 (GRCm39)	M179V	probably benign	Het
Tm9sf1	G	T	14: 55,873,938 (GRCm39)	T520N	probably damaging	Het
Tmem163	G	A	1: 127,419,289 (GRCm39)		probably benign	Het
Vmn1r47	A	T	6: 89,999,525 (GRCm39)	Q219L	probably damaging	Het
Vmn2r104	A	T	17: 20,258,528 (GRCm39)	C539S	probably damaging	Het
Wdr17	G	T	8: 55,096,221 (GRCm39)	S1024R	probably benign	Het
Zc3h4	A	G	7: 16,168,440 (GRCm39)	T850A	unknown	Het
Zfa-ps	A	G	10: 52,419,552 (GRCm39)		noncoding transcript	Het
Zfp146	G	T	7: 29,861,900 (GRCm39)	N47K	probably benign	Het
Zfp353-ps	G	T	8: 42,534,572 (GRCm39)		noncoding transcript	Het
Zfp607a	A	T	7: 27,577,730 (GRCm39)	K267*	probably null	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
R3797:Skida1	UTSW	2	18,050,708 (GRCm39)	nonsense	probably null
R4521:Skida1	UTSW	2	18,050,683 (GRCm39)	unclassified	probably benign
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'- TGAAACCTCTCCAAGCAAGTG -3'
(R):5'- TTTTAGCAAATACCCGGGCTC -3'

Sequencing Primer
(F):5'- TGTAGGATCTGGGCAGCAGC -3'
(R):5'- CCCACTACCCGGAGATCGTTC -3'

Posted On

2016-07-06