Mutagenetix > Incidental Mutation

Incidental Mutation 'R5467:Skida1'

433268

Institutional Source

Beutler Lab

Gene Symbol

Skida1

Ensembl Gene

ENSMUSG00000054074

Gene Name

SKI/DACH domain containing 1

Synonyms

5730507N06Rik, 2810030E01Rik

MMRRC Submission

043028-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R5467 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18048510-18053627 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 18050923 bp (GRCm39)

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: E656G

SMART Domains

Protein: ENSMUSP00000068520
Gene: ENSMUSG00000054074
AA Change: E656G

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: E743G

SMART Domains

Protein: ENSMUSP00000088982
Gene: ENSMUSG00000054074
AA Change: E743G

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

Coding Region Coverage

1x: 98.2%
3x: 97.2%
10x: 94.9%
20x: 89.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,222,991 (GRCm39)	M525T	possibly damaging	Het
Arpc5l	T	C	2: 38,903,751 (GRCm39)	V80A	possibly damaging	Het
Atp7b	G	A	8: 22,501,570 (GRCm39)	T781I	probably damaging	Het
Bltp3b	G	T	10: 89,640,961 (GRCm39)	G711W	probably damaging	Het
Celsr3	A	T	9: 108,705,836 (GRCm39)	D773V	probably damaging	Het
Clcn6	A	T	4: 148,102,093 (GRCm39)	H330Q	possibly damaging	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,759,803 (GRCm39)		probably null	Het
Dmbt1	C	A	7: 130,642,723 (GRCm39)	S180R	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Elovl7	T	C	13: 108,416,156 (GRCm39)	V182A	probably benign	Het
Eml3	G	A	19: 8,914,946 (GRCm39)	W601*	probably null	Het
Farp1	C	T	14: 121,472,489 (GRCm39)	P208L	probably damaging	Het
Fras1	A	T	5: 96,927,912 (GRCm39)	Y3775F	probably benign	Het
Gns	T	C	10: 121,227,351 (GRCm39)	W454R	probably benign	Het
Katnip	T	C	7: 125,442,527 (GRCm39)	F812S	possibly damaging	Het
Kcnh2	A	T	5: 24,531,765 (GRCm39)	L40*	probably null	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Lrrc37	G	T	11: 103,494,091 (GRCm39)	C655*	probably null	Het
Mgl2	T	A	11: 70,025,878 (GRCm39)	I31N	possibly damaging	Het
Muc6	T	C	7: 141,216,448 (GRCm39)	T2677A	possibly damaging	Het
Ndst1	A	G	18: 60,825,093 (GRCm39)	S742P	probably benign	Het
Or10g6	G	T	9: 39,933,733 (GRCm39)	V15L	probably benign	Het
Or1o11	G	T	17: 37,756,973 (GRCm39)	C187F	probably damaging	Het
Or4d6	A	C	19: 12,086,023 (GRCm39)	S70A	probably benign	Het
Or5b112	A	T	19: 13,319,521 (GRCm39)	Y133F	probably damaging	Het
Or8g21	T	C	9: 38,906,200 (GRCm39)	Y177C	probably benign	Het
Pcdhb22	A	G	18: 37,653,188 (GRCm39)	D552G	probably benign	Het
Pikfyve	T	A	1: 65,291,654 (GRCm39)	V1291E	probably damaging	Het
Ppp4r3a	T	C	12: 101,009,729 (GRCm39)	E636G	probably damaging	Het
Prl5a1	A	T	13: 28,333,994 (GRCm39)	I166L	possibly damaging	Het
Rb1	T	C	14: 73,449,060 (GRCm39)	D690G	possibly damaging	Het
Sh3tc2	A	G	18: 62,123,759 (GRCm39)	H840R	possibly damaging	Het
Slc31a2	A	G	4: 62,210,924 (GRCm39)	H19R	probably damaging	Het
Styxl2	C	A	1: 165,939,599 (GRCm39)		probably null	Het
Tnks2	A	T	19: 36,859,176 (GRCm39)	R314W	probably damaging	Het
Trak1	A	G	9: 121,275,864 (GRCm39)	D189G	probably damaging	Het
Trav13n-4	T	A	14: 53,601,303 (GRCm39)	V24E	probably damaging	Het
Ylpm1	T	C	12: 85,043,633 (GRCm39)	Y124H	unknown	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	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
R5270:Skida1	UTSW	2	18,052,460 (GRCm39)	missense	probably benign	0.03
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'- CGAGGGCTTCTAGCTGATTTC -3'
(R):5'- ACAGGTGACAAGACATTGCC -3'

Sequencing Primer
(F):5'- AGGGCTTCTAGCTGATTTCAAATTTG -3'
(R):5'- CAGGTGACAAGACATTGCCATTTC -3'

Posted On

2016-10-06