Mutagenetix > Incidental Mutation

Incidental Mutation 'R6524:Scand1'

543440

Institutional Source

Beutler Lab

Gene Symbol

Scand1

Ensembl Gene

ENSMUSG00000046229

Gene Name

SCAN domain-containing 1

Synonyms

Leap1, 2310003H23Rik, PGC-2, Ppargc2

MMRRC Submission

044650-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.328) question?

Stock #

R6524 (G1)

Quality Score

74.0075

Status

Validated

Chromosome

Chromosomal Location

156153766-156154624 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 156154169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037096] [ENSMUST00000037401] [ENSMUST00000073942] [ENSMUST00000079125] [ENSMUST00000109580]

AlphaFold

Q2M4I6

Predicted Effect

probably benign
Transcript: ENSMUST00000037096

SMART Domains

Protein: ENSMUSP00000041268
Gene: ENSMUSG00000038085

Domain	Start	End	E-Value	Type
low complexity region	45	68	N/A	INTRINSIC
cNMP	206	332	1.78e-7	SMART
Blast:cNMP	376	443	4e-19	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000037401

SMART Domains

Protein: ENSMUSP00000043138
Gene: ENSMUSG00000038116

Domain	Start	End	E-Value	Type
TUDOR	11	71	5.27e0	SMART
TUDOR	85	141	7.13e-4	SMART
AT_hook	257	269	1.65e0	SMART
low complexity region	323	332	N/A	INTRINSIC
ZnF_C2H2	455	480	1.86e0	SMART
low complexity region	486	493	N/A	INTRINSIC
low complexity region	526	555	N/A	INTRINSIC
low complexity region	612	630	N/A	INTRINSIC
PHD	657	701	2.83e-4	SMART
coiled coil region	945	966	N/A	INTRINSIC
low complexity region	974	987	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000073942

SMART Domains

Protein: ENSMUSP00000073598
Gene: ENSMUSG00000038085

Domain	Start	End	E-Value	Type
cNMP	89	215	1.78e-7	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000079125
AA Change: G34R

SMART Domains

Protein: ENSMUSP00000105211
Gene: ENSMUSG00000046229
AA Change: G34R

Domain	Start	End	E-Value	Type
low complexity region	2	24	N/A	INTRINSIC
low complexity region	27	48	N/A	INTRINSIC
SCAN	67	141	1.89e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109580

SMART Domains

Protein: ENSMUSP00000105208
Gene: ENSMUSG00000038085

Domain	Start	End	E-Value	Type
cNMP	77	203	1.78e-7	SMART
Blast:cNMP	247	314	3e-19	BLAST

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

100% (44/44)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a SCAN box domain-containing protein. The SCAN domain is a highly conserved, leucine-rich motif of approximately 60 aa originally found within a subfamily of zinc finger proteins. This gene belongs to a family of genes that encode an isolated SCAN domain, but no zinc finger motif. This protein binds to and may regulate the function of the transcription factor myeloid zinc finger 1B. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 106,435,641 (GRCm39)	R100G	possibly damaging	Het
Acin1	G	T	14: 54,882,740 (GRCm39)	D237E	probably damaging	Het
Ankfy1	G	A	11: 72,621,308 (GRCm39)	R198Q	possibly damaging	Het
C3	A	T	17: 57,524,264 (GRCm39)		probably null	Het
Dnaaf2	A	T	12: 69,237,159 (GRCm39)	C650S	probably benign	Het
Dsg2	T	G	18: 20,716,093 (GRCm39)	F315V	probably damaging	Het
Dyrk1a	C	T	16: 94,485,979 (GRCm39)	S404L	probably benign	Het
Eefsec	T	C	6: 88,274,902 (GRCm39)		probably null	Het
Esco1	T	G	18: 10,582,188 (GRCm39)		probably null	Het
Fam83a	T	C	15: 57,858,736 (GRCm39)		probably null	Het
Fat3	A	T	9: 15,903,552 (GRCm39)	V2981E	probably damaging	Het
H1f11-ps	G	A	19: 47,158,999 (GRCm39)	T192M	unknown	Het
Heatr5b	A	G	17: 79,121,535 (GRCm39)	L730P	possibly damaging	Het
Hgsnat	A	G	8: 26,435,260 (GRCm39)	S625P	probably damaging	Het
Itpr1	C	T	6: 108,340,644 (GRCm39)	T84I	probably damaging	Het
Itpr2	T	C	6: 146,246,709 (GRCm39)	N1070S	probably benign	Het
Itsn1	T	C	16: 91,708,883 (GRCm39)	F276L	probably damaging	Het
Krt84	A	G	15: 101,441,187 (GRCm39)	S2P	unknown	Het
Lbhd2	G	A	12: 111,376,724 (GRCm39)	R57H	probably damaging	Het
Lcmt2	T	C	2: 120,969,412 (GRCm39)	E337G	possibly damaging	Het
Lrp1b	T	C	2: 40,741,816 (GRCm39)	E3037G	possibly damaging	Het
Lrp2	T	C	2: 69,266,983 (GRCm39)	E4308G	possibly damaging	Het
Med13	A	G	11: 86,192,293 (GRCm39)	I824T	probably damaging	Het
Meiob	G	A	17: 25,051,491 (GRCm39)	V291I	probably benign	Het
Mtcl1	A	T	17: 66,655,280 (GRCm39)	D1343E	probably benign	Het
Mybl2	C	A	2: 162,916,450 (GRCm39)	P367Q	possibly damaging	Het
Nav3	T	C	10: 109,555,891 (GRCm39)	N1680S	probably damaging	Het
Nif3l1	T	C	1: 58,496,999 (GRCm39)	V308A	probably benign	Het
Or5h23	C	T	16: 58,906,640 (GRCm39)	V69M	possibly damaging	Het
Pclo	G	A	5: 14,768,883 (GRCm39)	R4366H	unknown	Het
Phax	T	A	18: 56,720,074 (GRCm39)	D338E	probably damaging	Het
Pnpla6	T	A	8: 3,584,519 (GRCm39)		probably null	Het
Rint1	A	T	5: 24,020,737 (GRCm39)	M529L	probably benign	Het
Six3	C	T	17: 85,929,398 (GRCm39)	T244I	probably damaging	Het
Slc4a4	T	C	5: 89,380,623 (GRCm39)	S1034P	probably benign	Het
Ssu72	T	G	4: 155,799,997 (GRCm39)	N53K	probably null	Het
Timm44	T	C	8: 4,317,988 (GRCm39)	D140G	possibly damaging	Het
Tspan8	T	C	10: 115,679,984 (GRCm39)	F200L	probably benign	Het
Tyw5	A	T	1: 57,427,890 (GRCm39)	V234D	possibly damaging	Het
Ubxn10	T	A	4: 138,448,194 (GRCm39)	R161*	probably null	Het
Vmn2r23	T	A	6: 123,690,384 (GRCm39)	L420Q	probably damaging	Het
Wdr1	A	T	5: 38,687,406 (GRCm39)	D208E	probably benign	Het
Yif1a	A	G	19: 5,142,204 (GRCm39)	Y230C	probably damaging	Het

Other mutations in Scand1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
P4748:Scand1	UTSW	2	156,153,865 (GRCm39)	missense	probably damaging	0.99
R4672:Scand1	UTSW	2	156,153,850 (GRCm39)	splice site	probably null
R7992:Scand1	UTSW	2	156,154,232 (GRCm39)	missense	unknown
R8128:Scand1	UTSW	2	156,153,961 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAACTCAGGGGTAGGGTGTCAG -3'
(R):5'- ATCGGTTCATTTCCGGCCAC -3'

Sequencing Primer
(F):5'- TAGAATGGCCTGCAGCTG -3'
(R):5'- AGCGGCCCTCTGTTACC -3'

Posted On

2018-12-13