Mutagenetix > Incidental Mutation

Incidental Mutation 'R7992:Scand1'

651787

Institutional Source

Beutler Lab

Gene Symbol

Scand1

Ensembl Gene

ENSMUSG00000046229

Gene Name

SCAN domain-containing 1

Synonyms

Leap1, 2310003H23Rik, PGC-2, Ppargc2

MMRRC Submission

046033-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.290) question?

Stock #

R7992 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

156153766-156154624 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 156154232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 13 (P13S)

Ref Sequence

ENSEMBL: ENSMUSP00000105211 (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: P13S

SMART Domains

Protein: ENSMUSP00000105211
Gene: ENSMUSG00000046229
AA Change: P13S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	G	15: 11,310,904 (GRCm39)	T1054A	probably benign	Het
Ankfn1	A	C	11: 89,413,859 (GRCm39)	I172S	probably benign	Het
Ano3	T	C	2: 110,605,367 (GRCm39)	T280A	possibly damaging	Het
Arhgef37	T	A	18: 61,638,827 (GRCm39)	E307D	probably benign	Het
Bptf	C	T	11: 107,001,709 (GRCm39)	V468I	probably benign	Het
Ces1b	A	G	8: 93,786,987 (GRCm39)	V464A	probably benign	Het
Cmc2	A	T	8: 117,616,446 (GRCm39)	L93*	probably null	Het
Ddx60	A	G	8: 62,407,569 (GRCm39)	D360G	probably benign	Het
Dock6	C	T	9: 21,744,135 (GRCm39)		probably null	Het
Erp44	A	G	4: 48,218,136 (GRCm39)	F178L	possibly damaging	Het
Fam47e	T	C	5: 92,722,541 (GRCm39)	V79A	probably damaging	Het
Fancd2	T	C	6: 113,542,165 (GRCm39)	S770P	probably damaging	Het
Fcgr1	A	G	3: 96,191,897 (GRCm39)	F304L	probably benign	Het
Fkbp15	T	C	4: 62,230,538 (GRCm39)	E725G	probably damaging	Het
Fn1	T	C	1: 71,638,825 (GRCm39)	I1971V	probably benign	Het
Gdf6	A	G	4: 9,844,652 (GRCm39)	S59G	probably benign	Het
Gm5773	T	A	3: 93,680,373 (GRCm39)	I15N	possibly damaging	Het
Hesx1	T	C	14: 26,723,379 (GRCm39)	S70P	probably benign	Het
Htr5a	T	C	5: 28,055,995 (GRCm39)	S329P	probably damaging	Het
Htt	T	C	5: 34,987,225 (GRCm39)		probably null	Het
Iba57	T	A	11: 59,052,288 (GRCm39)	M118L	unknown	Het
Ifi35	C	T	11: 101,348,307 (GRCm39)	Q112*	probably null	Het
Il12rb1	G	T	8: 71,265,233 (GRCm39)	R183L	possibly damaging	Het
Il12rb2	A	T	6: 67,328,311 (GRCm39)	Y306*	probably null	Het
Ints1	C	G	5: 139,742,282 (GRCm39)	D1722H	probably damaging	Het
Ipp	T	G	4: 116,381,453 (GRCm39)	D317E	probably damaging	Het
Kif26a	A	G	12: 112,142,481 (GRCm39)	T912A	probably benign	Het
Klhdc7a	A	G	4: 139,693,045 (GRCm39)	V634A	probably damaging	Het
Klhl40	C	A	9: 121,607,748 (GRCm39)	P303T	probably damaging	Het
Krt13	T	C	11: 100,008,478 (GRCm39)	T420A	unknown	Het
Lpcat2	T	C	8: 93,582,186 (GRCm39)	F35S	probably damaging	Het
Macf1	A	G	4: 123,289,753 (GRCm39)	V5470A	probably damaging	Het
Mta2	T	C	19: 8,925,151 (GRCm39)		probably null	Het
Muc16	G	T	9: 18,567,725 (GRCm39)	T1598K	unknown	Het
Nckap5	A	T	1: 125,954,547 (GRCm39)	N668K	probably damaging	Het
Nlrp4a	A	T	7: 26,150,070 (GRCm39)	D559V	possibly damaging	Het
Npat	T	C	9: 53,474,167 (GRCm39)	L653P	probably benign	Het
Oog1	G	A	12: 87,655,252 (GRCm39)	V467I	possibly damaging	Het
Or4c15b	A	G	2: 89,113,082 (GRCm39)	S132P	probably benign	Het
Or4f56	C	T	2: 111,703,280 (GRCm39)	A307T	probably benign	Het
Pdzph1	T	A	17: 59,186,105 (GRCm39)	M1229L	possibly damaging	Het
Piwil4	T	A	9: 14,614,445 (GRCm39)	Q106L		Het
Plekha5	C	A	6: 140,472,267 (GRCm39)	R65S	probably damaging	Het
Ptger4	T	C	15: 5,264,381 (GRCm39)	Y425C	probably damaging	Het
Pus7	A	G	5: 23,951,465 (GRCm39)	M534T	possibly damaging	Het
Rtkn2	C	T	10: 67,875,923 (GRCm39)	P411S	probably damaging	Het
Scaper	T	C	9: 55,765,438 (GRCm39)	H550R	probably benign	Het
Senp5	T	A	16: 31,796,514 (GRCm39)	K617I	probably damaging	Het
Shq1	A	G	6: 100,613,972 (GRCm39)	L282P	probably damaging	Het
Slc12a6	T	A	2: 112,166,256 (GRCm39)	C227S	probably damaging	Het
Slc5a9	T	A	4: 111,747,729 (GRCm39)	T284S	probably benign	Het
Stat2	T	A	10: 128,120,831 (GRCm39)	F579L	probably damaging	Het
Tes	G	T	6: 17,096,242 (GRCm39)	A77S	possibly damaging	Het
Themis	A	T	10: 28,637,342 (GRCm39)	T149S	probably benign	Het
Tmprss6	C	T	15: 78,326,664 (GRCm39)	R653H	probably benign	Het
Trmt6	G	A	2: 132,652,959 (GRCm39)	L107F	probably damaging	Het
Trpm6	T	C	19: 18,792,714 (GRCm39)	C713R	probably damaging	Het
Trpm7	T	C	2: 126,667,454 (GRCm39)	I820V	probably benign	Het
Usp45	G	A	4: 21,824,543 (GRCm39)	A432T	probably benign	Het
Xab2	A	T	8: 3,668,622 (GRCm39)	V82E	possibly damaging	Het
Zfp938	T	A	10: 82,061,777 (GRCm39)	Y281F	possibly 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
R6524:Scand1	UTSW	2	156,154,169 (GRCm39)	unclassified	probably benign
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'- TCGCGGGTCGAGGTAAG -3'

Posted On

2020-09-15