Mutagenetix > Incidental Mutation

Incidental Mutation 'R4521:Skida1'

334205

Institutional Source

Beutler Lab

Gene Symbol

Skida1

Ensembl Gene

ENSMUSG00000054074

Gene Name

SKI/DACH domain containing 1

Synonyms

MMRRC Submission

041764-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R4521 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18040676-18049051 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 18045872 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114785 (fasta)

Gene Model

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

AlphaFold

Q80YR3

Predicted Effect

unknown
Transcript: ENSMUST00000066885
AA Change: D736G

SMART Domains

Protein: ENSMUSP00000068520
Gene: ENSMUSG00000054074
AA Change: D736G

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

unknown
Transcript: ENSMUST00000091420
AA Change: D823G

SMART Domains

Protein: ENSMUSP00000088982
Gene: ENSMUSG00000054074
AA Change: D823G

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

0.0824

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc3	A	G	10: 50,660,670	N700D	probably benign	Het
Bora	G	T	14: 99,068,548	S451I	probably damaging	Het
Cadm3	A	T	1: 173,345,063		probably null	Het
Car14	A	G	3: 95,904,378		probably benign	Het
Ccdc88c	G	T	12: 100,913,332	S1843R	possibly damaging	Het
Cdc20b	A	G	13: 113,081,191	I381M	probably damaging	Het
Col12a1	C	T	9: 79,633,357	V2449I	probably benign	Het
Crb2	T	C	2: 37,795,337		probably benign	Het
Dcaf6	A	T	1: 165,390,490	D347E	probably damaging	Het
Dlgap2	G	A	8: 14,727,871	R372H	probably damaging	Het
Fat3	T	C	9: 15,922,942	N4118S	probably null	Het
Fbxo41	A	G	6: 85,484,042	I228T	probably damaging	Het
Fpr2	A	C	17: 17,893,247	R168S	probably benign	Het
Ghr	A	G	15: 3,325,958	I281T	probably damaging	Het
Glmp	C	A	3: 88,328,039	N259K	possibly damaging	Het
Grhl3	T	C	4: 135,546,250	K564E	probably damaging	Het
Helz2	T	C	2: 181,228,833	H2875R	probably benign	Het
Lcp1	A	G	14: 75,215,168	D438G	possibly damaging	Het
Lrfn2	T	A	17: 49,069,894	M1K	probably null	Het
Lrp6	A	G	6: 134,485,862	C612R	probably damaging	Het
Map3k13	T	C	16: 21,905,775	V341A	possibly damaging	Het
Megf8	T	A	7: 25,342,701	C1315S	probably benign	Het
Mrgpra9	A	T	7: 47,235,190	L243H	probably damaging	Het
Mrgprx1	T	C	7: 48,021,699	D100G	probably benign	Het
Nop2	G	T	6: 125,133,552	R47L	probably damaging	Het
Nup93	T	C	8: 94,314,636	Y801H	probably damaging	Het
Olfr623	C	T	7: 103,660,332	R306H	probably benign	Het
Olfr810	T	A	10: 129,791,181	N136I	possibly damaging	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Plce1	T	C	19: 38,524,319	S21P	possibly damaging	Het
Plpp2	A	G	10: 79,530,625	Y118H	probably damaging	Het
Ppwd1	A	G	13: 104,209,659	V496A	probably benign	Het
Rbm20	A	G	19: 53,817,202	N466S	probably benign	Het
Rpl10l	T	C	12: 66,283,738	D207G	probably benign	Het
Stk17b	A	G	1: 53,764,038	Y73H	probably damaging	Het
Tapbpl	A	G	6: 125,228,122	I287T	probably damaging	Het
Tmem38a	C	T	8: 72,572,161	P20S	possibly damaging	Het
Topbp1	T	C	9: 103,334,202		probably benign	Het
Tsen54	G	A	11: 115,817,106		probably null	Het
Ttn	G	A	2: 76,725,216	R28736*	probably null	Het
Wdr36	G	A	18: 32,841,148		probably null	Het

Other mutations in Skida1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02315:Skida1	APN	2	18046005	unclassified	probably benign
IGL03220:Skida1	APN	2	18048161	missense	probably damaging	1.00
R0328:Skida1	UTSW	2	18047186	unclassified	probably benign
R0732:Skida1	UTSW	2	18046157	unclassified	probably benign
R1239:Skida1	UTSW	2	18047317	unclassified	probably benign
R1346:Skida1	UTSW	2	18048279	missense	possibly damaging	0.92
R1597:Skida1	UTSW	2	18046332	unclassified	probably benign
R1867:Skida1	UTSW	2	18046344	unclassified	probably benign
R3797:Skida1	UTSW	2	18045897	nonsense	probably null
R5270:Skida1	UTSW	2	18047649	missense	probably benign	0.03
R5467:Skida1	UTSW	2	18046112	unclassified	probably benign
R5890:Skida1	UTSW	2	18046003	unclassified	probably benign
R7181:Skida1	UTSW	2	18046791	missense	unknown
R7398:Skida1	UTSW	2	18046272	missense	unknown
R8103:Skida1	UTSW	2	18047738	missense	probably benign	0.01
R8199:Skida1	UTSW	2	18048148	missense	probably damaging	1.00
R8427:Skida1	UTSW	2	18046591	missense	unknown
R9178:Skida1	UTSW	2	18045678	nonsense	probably null
R9295:Skida1	UTSW	2	18046575	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGAGGTATTGCAGAACCGCC -3'
(R):5'- TCTCCAAAACCTGAGGATGGG -3'

Sequencing Primer
(F):5'- CCAGCTGCCATTTCCATATAGG -3'
(R):5'- ATGGGGAATATAAATTTGGTGCC -3'

Posted On

2015-08-18