Mutagenetix > Incidental Mutation

Incidental Mutation 'R4967:Smc4'

384082

Institutional Source

Beutler Lab

Gene Symbol

Smc4

Ensembl Gene

ENSMUSG00000034349

Gene Name

structural maintenance of chromosomes 4

Synonyms

Smc4l1, 2500002A22Rik

MMRRC Submission

042563-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.972) question?

Stock #

R4967 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68912071-68941956 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 68925572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141779 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042901] [ENSMUST00000107803] [ENSMUST00000136502] [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: ENSMUST00000124983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128134

Predicted Effect

probably benign
Transcript: ENSMUST00000136502

SMART Domains

Protein: ENSMUSP00000115033
Gene: ENSMUSG00000034349

Domain	Start	End	E-Value	Type
Pfam:SMC_N	81	303	1.2e-42	PFAM
Pfam:AAA_23	84	336	2.6e-16	PFAM
Pfam:AAA_21	106	227	1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156354

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194693

Predicted Effect

probably benign
Transcript: ENSMUST00000195525

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (102/102)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	T	12: 72,956,502 (GRCm39)	Y199*	probably null	Het
Adhfe1	A	T	1: 9,637,029 (GRCm39)	I394F	probably benign	Het
Arhgap26	G	T	18: 39,379,893 (GRCm39)	R485L	probably damaging	Het
Atat1	T	A	17: 36,212,467 (GRCm39)	N231I	probably damaging	Het
B4galnt2	T	C	11: 95,760,100 (GRCm39)	N309S	probably benign	Het
Bank1	A	T	3: 135,772,134 (GRCm39)	F499I	probably damaging	Het
Bcl9l	A	G	9: 44,416,365 (GRCm39)	D146G	possibly damaging	Het
Bglap3	A	T	3: 88,283,671 (GRCm39)		probably benign	Het
Bscl2	C	A	19: 8,825,344 (GRCm39)	T376K	probably benign	Het
Cercam	A	T	2: 29,761,033 (GRCm39)		probably null	Het
Clec4f	C	T	6: 83,633,012 (GRCm39)	M1I	probably null	Het
Clec4n	A	T	6: 123,209,066 (GRCm39)	I14F	probably benign	Het
Cmya5	T	C	13: 93,227,093 (GRCm39)	E2665G	probably damaging	Het
Cog4	T	A	8: 111,578,915 (GRCm39)		probably null	Het
Cubn	A	G	2: 13,352,856 (GRCm39)	F1961L	probably benign	Het
Cyp4a29	A	T	4: 115,104,196 (GRCm39)	H88L	probably benign	Het
Dhdh	A	G	7: 45,128,530 (GRCm39)	L216P	probably damaging	Het
Dpp6	T	C	5: 27,871,509 (GRCm39)	F544S	probably damaging	Het
Dthd1	C	T	5: 63,045,549 (GRCm39)	T771I	probably benign	Het
Emc10	A	G	7: 44,142,612 (GRCm39)		probably null	Het
Fgg	A	T	3: 82,920,072 (GRCm39)	T284S	probably benign	Het
Gask1a	C	T	9: 121,794,784 (GRCm39)	R313W	probably damaging	Het
Gm3002	T	A	14: 3,824,737 (GRCm38)	N24K	probably damaging	Het
Gm8674	G	A	13: 50,056,034 (GRCm39)		noncoding transcript	Het
Gpr63	G	A	4: 25,008,368 (GRCm39)	W364*	probably null	Het
Hcn4	C	G	9: 58,767,111 (GRCm39)	P891A	unknown	Het
Hcrtr1	A	T	4: 130,024,792 (GRCm39)	F365I	possibly damaging	Het
Hmcn2	A	G	2: 31,244,176 (GRCm39)		probably null	Het
Hoxc5	T	A	15: 102,923,786 (GRCm39)	L194H	probably damaging	Het
Ifna11	A	G	4: 88,738,287 (GRCm39)	N31S	probably null	Het
Ikbke	GCC	G	1: 131,203,004 (GRCm39)		probably null	Het
Iqgap2	A	T	13: 95,766,514 (GRCm39)	D1496E	probably benign	Het
Kif28	G	T	1: 179,536,007 (GRCm39)	Q556K	probably damaging	Het
Klhl42	C	T	6: 147,009,502 (GRCm39)	T447I	possibly damaging	Het
Lrp1b	A	C	2: 41,678,986 (GRCm39)	D35E	probably damaging	Het
Lsm14b	A	G	2: 179,675,692 (GRCm39)		probably benign	Het
Map3k1	T	C	13: 111,909,272 (GRCm39)	E226G	probably damaging	Het
Map3k14	T	A	11: 103,130,357 (GRCm39)	N187Y	probably benign	Het
Mcm6	A	T	1: 128,263,586 (GRCm39)	V645E	probably damaging	Het
Mdh1b	G	T	1: 63,759,022 (GRCm39)	P190Q	probably damaging	Het
Meiob	T	G	17: 25,037,353 (GRCm39)	L77R	probably damaging	Het
Mrgpra3	A	T	7: 47,239,267 (GRCm39)	F220I	probably benign	Het
Mrtfa	C	A	15: 80,929,476 (GRCm39)		probably benign	Het
Mtor	T	A	4: 148,575,817 (GRCm39)	S1324T	possibly damaging	Het
Myot	T	A	18: 44,487,995 (GRCm39)	D437E	possibly damaging	Het
Ncoa6	G	T	2: 155,263,252 (GRCm39)	T394K	possibly damaging	Het
Nf1	T	A	11: 79,456,379 (GRCm39)		probably null	Het
Nup210	T	A	6: 91,013,451 (GRCm39)	T1190S	possibly damaging	Het
Odf1	T	A	15: 38,226,652 (GRCm39)	I184N	probably damaging	Het
Or10d1	C	T	9: 39,484,054 (GRCm39)	C167Y	probably damaging	Het
Or13d1	T	C	4: 52,970,960 (GRCm39)	V113A	possibly damaging	Het
Or1n1b	A	G	2: 36,780,719 (GRCm39)	I47T	probably damaging	Het
Or5k15	G	T	16: 58,709,957 (GRCm39)	Q209K	possibly damaging	Het
Padi1	A	G	4: 140,572,901 (GRCm39)	V21A	probably benign	Het
Pdzrn3	C	T	6: 101,128,551 (GRCm39)	R705H	probably damaging	Het
Pik3cb	T	C	9: 98,987,685 (GRCm39)	I18V	probably benign	Het
Pmpca	T	C	2: 26,280,320 (GRCm39)	S117P	probably damaging	Het
Poteg	T	A	8: 27,985,009 (GRCm39)		probably benign	Het
Pramel32	T	C	4: 88,547,432 (GRCm39)	T80A	probably damaging	Het
Rab30	G	A	7: 92,478,771 (GRCm39)	R72H	probably damaging	Het
Ramp2	T	A	11: 101,138,383 (GRCm39)		probably null	Het
Rbks	G	A	5: 31,781,876 (GRCm39)	T308I	probably damaging	Het
Rnf112	A	G	11: 61,343,752 (GRCm39)		probably benign	Het
Rnf38	G	A	4: 44,152,460 (GRCm39)	P3S	probably damaging	Het
Sec16a	A	G	2: 26,302,883 (GRCm39)	S2344P	probably benign	Het
Slc16a8	C	T	15: 79,137,084 (GRCm39)	V109M	possibly damaging	Het
Slc28a1	A	T	7: 80,791,757 (GRCm39)	T308S	possibly damaging	Het
Slc39a3	T	C	10: 80,867,453 (GRCm39)	T98A	possibly damaging	Het
Smarcc2	T	C	10: 128,319,049 (GRCm39)	F731L	probably damaging	Het
Sparcl1	T	G	5: 104,240,776 (GRCm39)	D216A	probably damaging	Het
Speg	G	A	1: 75,364,513 (GRCm39)	R192H	probably damaging	Het
Sspo	T	C	6: 48,441,539 (GRCm39)	L1892P	probably damaging	Het
Styxl2	A	T	1: 165,954,675 (GRCm39)	V25E	probably damaging	Het
Tacc2	A	G	7: 130,225,678 (GRCm39)	N807D	probably damaging	Het
Teddm1a	A	T	1: 153,767,979 (GRCm39)	K148*	probably null	Het
Tex15	T	A	8: 34,064,498 (GRCm39)	D1309E	probably benign	Het
Thbs1	A	T	2: 117,945,259 (GRCm39)	E277D	probably benign	Het
Ticrr	G	A	7: 79,310,158 (GRCm39)	R24Q	probably damaging	Het
Tigd4	A	G	3: 84,502,460 (GRCm39)	E459G	probably benign	Het
Tln2	C	A	9: 67,262,407 (GRCm39)	A615S	probably damaging	Het
Tmprss5	T	C	9: 49,026,817 (GRCm39)	V410A	probably damaging	Het
Tnrc6a	G	T	7: 122,789,095 (GRCm39)	W1638L	probably damaging	Het
Tpr	A	G	1: 150,285,810 (GRCm39)	D424G	probably damaging	Het
Trim34a	A	T	7: 103,910,271 (GRCm39)	K358*	probably null	Het
Tssk5	T	A	15: 76,258,856 (GRCm39)	D10V	possibly damaging	Het
Usp35	A	C	7: 96,962,782 (GRCm39)	L470R	probably damaging	Het
Usp42	T	C	5: 143,701,119 (GRCm39)	D968G	possibly damaging	Het
Utrn	A	G	10: 12,331,164 (GRCm39)	V2924A	probably damaging	Het
Wdtc1	C	A	4: 133,021,654 (GRCm39)	A627S	probably damaging	Het
Xrra1	A	G	7: 99,555,730 (GRCm39)	T366A	probably damaging	Het
Zfp712	T	A	13: 67,188,773 (GRCm39)	K585*	probably null	Het
Zfp97	T	A	17: 17,365,393 (GRCm39)	N297K	probably damaging	Het
Zfp97	G	T	17: 17,364,938 (GRCm39)	E146*	probably null	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
IGL00542:Smc4	APN	3	68,935,771 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CCCTCTAGTTATGATCTGCAGAATAG -3'
(R):5'- CCATTAGGACTAGTGGGTCAGG -3'

Sequencing Primer
(F):5'- ATGATCTGCAGAATAGAATTGCTG -3'
(R):5'- ACTAGTGGGTCAGGTTAAATGC -3'

Posted On

2016-04-27