Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00542:Smc4'

6880

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smc4

Ensembl Gene

ENSMUSG00000034349

Gene Name

structural maintenance of chromosomes 4

Synonyms

Smc4l1, 2500002A22Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

IGL00542

Quality Score

Status

Chromosome

Chromosomal Location

68912071-68941956 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 68935771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141779 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042901] [ENSMUST00000107803] [ENSMUST00000148385] [ENSMUST00000195525]

AlphaFold

Q8CG47

Predicted Effect

probably benign
Transcript: ENSMUST00000042901

SMART Domains

Protein: ENSMUSP00000047872
Gene: ENSMUSG00000034349

Domain	Start	End	E-Value	Type
PDB:1W1W\|D	89	238	1e-17	PDB
Blast:AAA	104	238	3e-6	BLAST
low complexity region	408	427	N/A	INTRINSIC
low complexity region	447	460	N/A	INTRINSIC
low complexity region	473	482	N/A	INTRINSIC
low complexity region	545	567	N/A	INTRINSIC
SMC_hinge	611	726	1.12e-31	SMART
low complexity region	870	881	N/A	INTRINSIC
low complexity region	942	953	N/A	INTRINSIC
Blast:AAA	1102	1276	5e-26	BLAST
PDB:3KTA\|D	1125	1276	3e-30	PDB
SCOP:d1e69a_	1188	1263	3e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107803

SMART Domains

Protein: ENSMUSP00000103433
Gene: ENSMUSG00000034349

Domain	Start	End	E-Value	Type
Pfam:AAA_23	59	329	1.3e-12	PFAM
Pfam:AAA_21	81	199	5.2e-7	PFAM
coiled coil region	369	482	N/A	INTRINSIC
coiled coil region	511	563	N/A	INTRINSIC
SMC_hinge	586	701	8.6e-36	SMART
Pfam:SMC_N	738	1247	1.1e-35	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128118

Predicted Effect

probably benign
Transcript: ENSMUST00000148385

Predicted Effect

probably benign
Transcript: ENSMUST00000149174

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194693

Predicted Effect

probably benign
Transcript: ENSMUST00000195525

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the 'structural maintenance of chromosomes' (SMC) gene family. Members of this gene family play a role in two changes in chromosome structure during mitotic segregation of chromosomes- chromosome condensation and sister chromatid cohesion. The protein encoded by this gene is likely a subunit of the 13S condensin complex, which is involved in chromosome condensation. A pseudogene related to this gene is located on chromosome 2. [provided by RefSeq, Jun 2016]

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Birc6	G	A	17: 74,930,766 (GRCm39)		probably null	Het
Cyp11b1	A	T	15: 74,707,702 (GRCm39)		probably null	Het
Elovl2	T	C	13: 41,338,790 (GRCm39)	T287A	probably benign	Het
Ephb4	A	G	5: 137,363,877 (GRCm39)		probably benign	Het
Gpcpd1	T	C	2: 132,398,903 (GRCm39)		probably null	Het
Impg2	C	T	16: 56,081,968 (GRCm39)	R858*	probably null	Het
Lrrk2	G	A	15: 91,584,146 (GRCm39)	R302Q	probably benign	Het
Mgat4d	T	A	8: 84,081,425 (GRCm39)	H59Q	probably benign	Het
Plb1	T	C	5: 32,427,178 (GRCm39)	M96T	probably benign	Het
Scn5a	T	A	9: 119,321,192 (GRCm39)	I1457F	probably damaging	Het
Ugt2a3	T	C	5: 87,484,682 (GRCm39)	D114G	possibly damaging	Het
Zcchc7	C	T	4: 44,931,462 (GRCm39)	P217L	probably benign	Het
Zfat	T	G	15: 68,042,071 (GRCm39)	D821A	possibly damaging	Het

Other mutations in Smc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Smc4	APN	3	68,937,712 (GRCm39)	missense	probably damaging	0.98
IGL01104:Smc4	APN	3	68,934,917 (GRCm39)	missense	possibly damaging	0.95
IGL01380:Smc4	APN	3	68,933,161 (GRCm39)	missense	probably damaging	1.00
IGL01397:Smc4	APN	3	68,938,877 (GRCm39)	missense	probably benign
IGL02441:Smc4	APN	3	68,913,544 (GRCm39)	missense	probably damaging	1.00
IGL02629:Smc4	APN	3	68,933,206 (GRCm39)	missense	probably damaging	0.96
IGL03220:Smc4	APN	3	68,916,875 (GRCm39)	missense	possibly damaging	0.67
pyrrhic	UTSW	3	68,934,835 (GRCm39)	missense	probably damaging	1.00
R0452:Smc4	UTSW	3	68,915,361 (GRCm39)	nonsense	probably null
R0523:Smc4	UTSW	3	68,933,221 (GRCm39)	missense	probably damaging	1.00
R0568:Smc4	UTSW	3	68,929,794 (GRCm39)	critical splice donor site	probably null
R0571:Smc4	UTSW	3	68,931,622 (GRCm39)	missense	probably damaging	1.00
R0602:Smc4	UTSW	3	68,916,871 (GRCm39)	missense	probably damaging	1.00
R0925:Smc4	UTSW	3	68,913,548 (GRCm39)	critical splice donor site	probably benign
R0963:Smc4	UTSW	3	68,933,259 (GRCm39)	missense	probably damaging	1.00
R1540:Smc4	UTSW	3	68,924,105 (GRCm39)	missense	probably damaging	1.00
R1755:Smc4	UTSW	3	68,941,441 (GRCm39)	missense	probably damaging	1.00
R1920:Smc4	UTSW	3	68,940,401 (GRCm39)	missense	probably damaging	1.00
R4226:Smc4	UTSW	3	68,938,800 (GRCm39)	missense	probably benign	0.01
R4510:Smc4	UTSW	3	68,923,980 (GRCm39)	splice site	probably null
R4511:Smc4	UTSW	3	68,923,980 (GRCm39)	splice site	probably null
R4899:Smc4	UTSW	3	68,939,144 (GRCm39)	missense	probably damaging	0.97
R4967:Smc4	UTSW	3	68,925,572 (GRCm39)	intron	probably benign
R5096:Smc4	UTSW	3	68,928,612 (GRCm39)	missense	probably damaging	1.00
R5101:Smc4	UTSW	3	68,935,845 (GRCm39)	missense	probably benign	0.00
R5588:Smc4	UTSW	3	68,933,190 (GRCm39)	missense	probably benign
R5631:Smc4	UTSW	3	68,937,645 (GRCm39)	missense	probably benign	0.16
R5633:Smc4	UTSW	3	68,915,443 (GRCm39)	missense	probably damaging	1.00
R6229:Smc4	UTSW	3	68,937,580 (GRCm39)	nonsense	probably null
R6300:Smc4	UTSW	3	68,935,224 (GRCm39)	missense	probably benign	0.00
R6554:Smc4	UTSW	3	68,936,848 (GRCm39)	missense	probably benign	0.00
R6596:Smc4	UTSW	3	68,933,226 (GRCm39)	missense	probably damaging	1.00
R6603:Smc4	UTSW	3	68,929,794 (GRCm39)	critical splice donor site	probably null
R6682:Smc4	UTSW	3	68,914,574 (GRCm39)	missense	probably damaging	0.98
R6727:Smc4	UTSW	3	68,924,105 (GRCm39)	missense	probably damaging	1.00
R6955:Smc4	UTSW	3	68,931,642 (GRCm39)	missense	possibly damaging	0.95
R7037:Smc4	UTSW	3	68,925,528 (GRCm39)	missense	possibly damaging	0.67
R7051:Smc4	UTSW	3	68,934,835 (GRCm39)	missense	probably damaging	1.00
R7454:Smc4	UTSW	3	68,925,457 (GRCm39)	missense	probably benign
R7630:Smc4	UTSW	3	68,925,400 (GRCm39)	critical splice acceptor site	probably benign
R7632:Smc4	UTSW	3	68,925,400 (GRCm39)	critical splice acceptor site	probably benign
R7633:Smc4	UTSW	3	68,925,400 (GRCm39)	critical splice acceptor site	probably benign
R7773:Smc4	UTSW	3	68,923,496 (GRCm39)	missense	probably damaging	1.00
R7857:Smc4	UTSW	3	68,940,552 (GRCm39)	missense	possibly damaging	0.61
R8008:Smc4	UTSW	3	68,914,645 (GRCm39)	missense	probably damaging	0.99
R8398:Smc4	UTSW	3	68,933,184 (GRCm39)	missense	probably damaging	1.00
R8527:Smc4	UTSW	3	68,940,224 (GRCm39)	critical splice donor site	probably null
R8936:Smc4	UTSW	3	68,925,491 (GRCm39)	missense	probably benign	0.21
R8998:Smc4	UTSW	3	68,934,894 (GRCm39)	utr 3 prime	probably benign
R9267:Smc4	UTSW	3	68,941,786 (GRCm39)	missense	probably damaging	1.00
R9440:Smc4	UTSW	3	68,915,455 (GRCm39)	critical splice donor site	probably null
R9476:Smc4	UTSW	3	68,914,662 (GRCm39)	missense	probably damaging	1.00
R9510:Smc4	UTSW	3	68,914,662 (GRCm39)	missense	probably damaging	1.00
R9777:Smc4	UTSW	3	68,929,655 (GRCm39)	nonsense	probably null
X0063:Smc4	UTSW	3	68,925,436 (GRCm39)	missense	possibly damaging	0.47

Posted On

2012-04-20