Mutagenetix > Incidental Mutation

Incidental Mutation 'R8885:Smc5'

677296

Institutional Source

Beutler Lab

Gene Symbol

Smc5

Ensembl Gene

ENSMUSG00000024943

Gene Name

structural maintenance of chromosomes 5

Synonyms

Smc5l1

MMRRC Submission

068751-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8885 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23183815-23251261 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 23191234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 924 (V924M)

Ref Sequence

ENSEMBL: ENSMUSP00000084837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087556] [ENSMUST00000223934] [ENSMUST00000226111]

AlphaFold

Q8CG46

Predicted Effect

probably damaging
Transcript: ENSMUST00000087556
AA Change: V924M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000084837
Gene: ENSMUSG00000024943
AA Change: V924M

Domain	Start	End	E-Value	Type
Pfam:SMC_N	52	1057	9.2e-19	PFAM
Pfam:AAA_23	55	456	1.2e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000223934
AA Change: V910M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226111
AA Change: V834M

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (104/104)

MGI Phenotype

PHENOTYPE: Homozygous knockout in embryonic stem cells causes abnormal mitosis, increased apoptosis and a shift from pluripotency to differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,471,525 (GRCm39)	S977C	possibly damaging	Het
Abca8a	T	A	11: 109,960,305 (GRCm39)	D646V	probably damaging	Het
Adss2	T	A	1: 177,597,526 (GRCm39)	Y378F	probably damaging	Het
Akap6	C	T	12: 53,188,319 (GRCm39)	A1911V	probably benign	Het
Alg2	T	C	4: 47,474,159 (GRCm39)	Y43C	probably benign	Het
Alk	A	C	17: 72,202,758 (GRCm39)	V1159G	probably damaging	Het
Alx3	A	T	3: 107,508,010 (GRCm39)	Q173L	probably damaging	Het
Aqp9	A	G	9: 71,069,593 (GRCm39)		probably benign	Het
Atf7ip	C	A	6: 136,564,141 (GRCm39)	L787I	probably benign	Het
Bbs9	A	T	9: 22,590,234 (GRCm39)	E657D	possibly damaging	Het
Bean1	G	A	8: 104,908,752 (GRCm39)		probably null	Het
Cactin	G	T	10: 81,157,082 (GRCm39)	R13L	unknown	Het
Ccdc178	T	C	18: 22,200,721 (GRCm39)	E412G	probably damaging	Het
Ccdc30	A	G	4: 119,181,759 (GRCm39)	I583T	probably damaging	Het
Ccl8	T	C	11: 82,006,933 (GRCm39)	Y49H	probably damaging	Het
Clptm1	T	A	7: 19,372,932 (GRCm39)	K199N	probably damaging	Het
Cnbp	G	A	6: 87,822,646 (GRCm39)	S39L	probably benign	Het
Cnih3	T	A	1: 181,237,437 (GRCm39)		probably benign	Het
Cnksr3	A	T	10: 7,090,201 (GRCm39)		probably benign	Het
Cntn1	A	G	15: 92,159,380 (GRCm39)	I512V	probably benign	Het
Col20a1	A	G	2: 180,640,296 (GRCm39)		probably benign	Het
Col28a1	A	T	6: 8,127,360 (GRCm39)		probably benign	Het
Col6a2	A	T	10: 76,450,741 (GRCm39)	Y63*	probably null	Het
Copa	T	G	1: 171,925,312 (GRCm39)	F190V	probably damaging	Het
Crisp4	A	C	1: 18,207,148 (GRCm39)		probably benign	Het
Cxcl2	C	T	5: 91,052,085 (GRCm39)	Q64*	probably null	Het
Cxcr5	T	C	9: 44,425,549 (GRCm39)	D36G	probably benign	Het
Cyp20a1	T	A	1: 60,411,765 (GRCm39)	V271E	possibly damaging	Het
D430041D05Rik	T	C	2: 104,071,538 (GRCm39)	Y570C	probably damaging	Het
Ddi1	T	G	9: 6,266,198 (GRCm39)	D57A	probably benign	Het
Ddx11	T	A	17: 66,450,460 (GRCm39)	S492T	probably benign	Het
Dhx34	C	T	7: 15,950,376 (GRCm39)	R264H	probably damaging	Het
Dnah3	T	A	7: 119,561,375 (GRCm39)	I328F		Het
Dnah5	C	T	15: 28,327,886 (GRCm39)	R2087C	probably damaging	Het
Dnah8	C	G	17: 30,927,286 (GRCm39)	S1314W	possibly damaging	Het
Dock2	T	C	11: 34,260,396 (GRCm39)	N982D	probably benign	Het
Dync1h1	A	G	12: 110,583,172 (GRCm39)	D423G	probably damaging	Het
Ect2l	A	C	10: 18,048,583 (GRCm39)	L213V	probably damaging	Het
Fam210a	T	C	18: 68,409,215 (GRCm39)	I32V	probably benign	Het
Fancg	A	G	4: 43,007,266 (GRCm39)		probably null	Het
Fastkd5	T	C	2: 130,457,111 (GRCm39)	E493G	probably benign	Het
Fbxo38	T	C	18: 62,659,272 (GRCm39)	M342V	probably damaging	Het
Flnc	A	C	6: 29,455,410 (GRCm39)	K2020Q	probably damaging	Het
Flt4	A	G	11: 49,527,160 (GRCm39)		probably benign	Het
Frmd4b	G	T	6: 97,389,480 (GRCm39)	P129T	probably benign	Het
Galnt13	C	A	2: 54,770,138 (GRCm39)	A310E	probably benign	Het
Gm4884	T	A	7: 40,694,108 (GRCm39)	Y692*	probably null	Het
Gm6309	T	A	5: 146,105,103 (GRCm39)	D270V	probably damaging	Het
Grip1	G	T	10: 119,290,192 (GRCm39)		probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kdf1	G	T	4: 133,255,505 (GRCm39)	C74F	probably damaging	Het
Kdm1b	T	A	13: 47,207,184 (GRCm39)	C169*	probably null	Het
Kmt2c	G	T	5: 25,520,077 (GRCm39)	T2011K	probably benign	Het
Lama1	G	A	17: 68,080,779 (GRCm39)	G1269E		Het
Lamb3	C	T	1: 193,017,182 (GRCm39)	A791V	probably benign	Het
Leng9	G	T	7: 4,151,774 (GRCm39)	R301S	possibly damaging	Het
Lgr6	C	A	1: 134,915,342 (GRCm39)	V746L	probably benign	Het
Lrp5	T	A	19: 3,702,170 (GRCm39)	S216C	probably damaging	Het
Ltn1	T	C	16: 87,178,433 (GRCm39)	T1599A	probably damaging	Het
Map2k1	G	T	9: 64,094,606 (GRCm39)	N345K	probably damaging	Het
Map4k1	T	A	7: 28,688,862 (GRCm39)	D304E	probably benign	Het
Mcpt1	C	T	14: 56,256,522 (GRCm39)	T86I	probably damaging	Het
Mcpt9	T	C	14: 56,265,153 (GRCm39)	K116R	probably benign	Het
Morc2a	G	T	11: 3,628,584 (GRCm39)	A346S	probably damaging	Het
Mybpc3	A	T	2: 90,954,237 (GRCm39)	Q370L	probably benign	Het
Nars2	T	C	7: 96,652,095 (GRCm39)	S229P	probably damaging	Het
Ndufa10	A	T	1: 92,397,693 (GRCm39)	Y118N	probably damaging	Het
Nek11	A	T	9: 105,172,571 (GRCm39)		probably null	Het
Notch4	T	C	17: 34,803,470 (GRCm39)	V1463A	possibly damaging	Het
Nrcam	T	C	12: 44,610,908 (GRCm39)	I536T	probably benign	Het
Or6c202	T	C	10: 128,996,334 (GRCm39)	Y173C	probably benign	Het
Pbld1	A	T	10: 62,912,226 (GRCm39)	T285S	probably benign	Het
Pcdhgb8	A	T	18: 37,896,177 (GRCm39)	T416S	possibly damaging	Het
Plekhg6	T	C	6: 125,351,523 (GRCm39)	D242G	probably damaging	Het
Pnmt	T	A	11: 98,278,580 (GRCm39)	V182D	probably benign	Het
Ppp1r13b	G	T	12: 111,799,871 (GRCm39)	N758K	probably damaging	Het
Prex2	A	G	1: 11,240,799 (GRCm39)		probably benign	Het
Prss3	A	T	6: 41,354,512 (GRCm39)	L7Q	probably damaging	Het
Prss43	T	A	9: 110,660,046 (GRCm39)	L370Q	probably damaging	Het
Rac1	A	T	5: 143,493,885 (GRCm39)	V104E	probably damaging	Het
Rgs9	T	C	11: 109,166,449 (GRCm39)	Y107C	probably damaging	Het
Rnase13	C	T	14: 52,159,940 (GRCm39)	W66*	probably null	Het
Rrp1b	G	A	17: 32,270,688 (GRCm39)	V216I	possibly damaging	Het
Serinc1	A	G	10: 57,395,864 (GRCm39)	S309P	probably benign	Het
Serpine3	T	A	14: 62,902,587 (GRCm39)	L66Q	probably damaging	Het
Spmip4	A	T	6: 50,551,028 (GRCm39)	Y474N	possibly damaging	Het
Srgap1	A	T	10: 121,761,545 (GRCm39)		probably benign	Het
Stab1	T	C	14: 30,883,771 (GRCm39)	E262G	possibly damaging	Het
Ston2	A	G	12: 91,606,498 (GRCm39)	*896R	probably null	Het
Syt6	A	G	3: 103,532,941 (GRCm39)	M442V	probably benign	Het
Tap1	T	C	17: 34,408,536 (GRCm39)		probably null	Het
Tbx3	A	C	5: 119,818,624 (GRCm39)	S420R	probably benign	Het
Tespa1	A	T	10: 130,198,316 (GRCm39)	Q446L	probably benign	Het
Tifab	T	C	13: 56,324,108 (GRCm39)	M112V	probably benign	Het
Trpv5	A	T	6: 41,630,192 (GRCm39)	S633T	possibly damaging	Het
Ttn	T	C	2: 76,684,236 (GRCm39)	K838R	unknown	Het
Ttn	A	T	2: 76,744,810 (GRCm39)	V5413E	probably damaging	Het
Tub	C	A	7: 108,628,793 (GRCm39)	N415K		Het
Vmn2r3	T	C	3: 64,182,383 (GRCm39)	M439V	probably benign	Het
Vps13c	A	G	9: 67,850,736 (GRCm39)	D2231G	probably benign	Het
Wbp1	C	T	6: 83,096,913 (GRCm39)	C118Y	unknown	Het
Zdhhc20	C	T	14: 58,127,671 (GRCm39)		probably benign	Het
Zfp217	T	A	2: 169,956,391 (GRCm39)	N869I	probably benign	Het
Zfp677	T	C	17: 21,618,350 (GRCm39)	I469T	probably benign	Het
Zmym2	T	A	14: 57,185,329 (GRCm39)		probably benign	Het
Zzef1	T	G	11: 72,687,402 (GRCm39)	S94A	probably benign	Het

Other mutations in Smc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Smc5	APN	19	23,213,329 (GRCm39)	missense	probably damaging	1.00
IGL01070:Smc5	APN	19	23,208,965 (GRCm39)	missense	possibly damaging	0.86
IGL01315:Smc5	APN	19	23,208,968 (GRCm39)	missense	probably benign
IGL01879:Smc5	APN	19	23,205,548 (GRCm39)	missense	probably damaging	0.97
IGL01902:Smc5	APN	19	23,237,132 (GRCm39)	missense	possibly damaging	0.85
IGL02016:Smc5	APN	19	23,251,076 (GRCm39)	missense	probably benign	0.00
IGL02186:Smc5	APN	19	23,209,223 (GRCm39)	missense	probably damaging	1.00
IGL02383:Smc5	APN	19	23,191,996 (GRCm39)	splice site	probably benign
IGL02447:Smc5	APN	19	23,234,856 (GRCm39)	missense	probably benign	0.01
IGL02534:Smc5	APN	19	23,205,536 (GRCm39)	critical splice donor site	probably null
IGL02834:Smc5	APN	19	23,234,968 (GRCm39)	missense	probably benign	0.30
IGL03290:Smc5	APN	19	23,251,022 (GRCm39)	missense	probably benign	0.19
R0722:Smc5	UTSW	19	23,186,291 (GRCm39)	missense	probably damaging	0.99
R0893:Smc5	UTSW	19	23,241,017 (GRCm39)	missense	possibly damaging	0.67
R0970:Smc5	UTSW	19	23,216,362 (GRCm39)	missense	probably damaging	1.00
R1281:Smc5	UTSW	19	23,213,247 (GRCm39)	missense	probably benign
R1368:Smc5	UTSW	19	23,187,807 (GRCm39)	missense	probably damaging	1.00
R2092:Smc5	UTSW	19	23,216,263 (GRCm39)	missense	probably benign
R3721:Smc5	UTSW	19	23,187,856 (GRCm39)	missense	probably benign	0.21
R4382:Smc5	UTSW	19	23,246,210 (GRCm39)	missense	probably benign	0.39
R4735:Smc5	UTSW	19	23,220,069 (GRCm39)	missense	probably benign
R4936:Smc5	UTSW	19	23,211,367 (GRCm39)	missense	probably damaging	1.00
R5306:Smc5	UTSW	19	23,237,009 (GRCm39)	critical splice donor site	probably null
R5754:Smc5	UTSW	19	23,221,467 (GRCm39)	missense	possibly damaging	0.92
R6175:Smc5	UTSW	19	23,191,534 (GRCm39)	missense	possibly damaging	0.60
R6313:Smc5	UTSW	19	23,186,312 (GRCm39)	nonsense	probably null
R6527:Smc5	UTSW	19	23,205,554 (GRCm39)	missense	probably benign	0.00
R6611:Smc5	UTSW	19	23,206,283 (GRCm39)	missense	probably benign	0.13
R6750:Smc5	UTSW	19	23,220,004 (GRCm39)	missense	probably damaging	1.00
R6801:Smc5	UTSW	19	23,192,010 (GRCm39)	missense	probably benign	0.34
R6821:Smc5	UTSW	19	23,220,151 (GRCm39)	missense	probably benign	0.20
R7002:Smc5	UTSW	19	23,209,247 (GRCm39)	missense	probably benign	0.00
R7198:Smc5	UTSW	19	23,237,064 (GRCm39)	nonsense	probably null
R7386:Smc5	UTSW	19	23,192,539 (GRCm39)	missense	possibly damaging	0.59
R7439:Smc5	UTSW	19	23,220,064 (GRCm39)	missense	probably damaging	0.97
R7596:Smc5	UTSW	19	23,191,533 (GRCm39)	missense	probably damaging	0.99
R7666:Smc5	UTSW	19	23,206,381 (GRCm39)	missense	probably benign	0.15
R7760:Smc5	UTSW	19	23,213,254 (GRCm39)	missense	probably benign	0.01
R7990:Smc5	UTSW	19	23,213,246 (GRCm39)	missense	probably benign	0.01
R8255:Smc5	UTSW	19	23,186,290 (GRCm39)	missense
R8359:Smc5	UTSW	19	23,211,443 (GRCm39)	missense	possibly damaging	0.49
R8473:Smc5	UTSW	19	23,221,446 (GRCm39)	missense	probably benign	0.02
R8711:Smc5	UTSW	19	23,243,058 (GRCm39)	missense	probably damaging	0.98
R8815:Smc5	UTSW	19	23,221,422 (GRCm39)	missense	probably damaging	1.00
R8940:Smc5	UTSW	19	23,237,126 (GRCm39)	missense	probably benign	0.00
R9642:Smc5	UTSW	19	23,238,752 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAATCTAATGCTAGAAACCCACAGGTG -3'
(R):5'- CCATGAATGGGATGAGCGTAC -3'

Sequencing Primer
(F):5'- CCCACAGGTGATCTCTTTCC -3'
(R):5'- AATGGGATGAGCGTACAAATTATAC -3'

Posted On

2021-08-02