Mutagenetix > Incidental Mutation

Incidental Mutation 'R8473:Stag1'

657128

Institutional Source

Beutler Lab

Gene Symbol

Stag1

Ensembl Gene

ENSMUSG00000037286

Gene Name

STAG1 cohesin complex component

Synonyms

SA-1, Scc3

MMRRC Submission

067917-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8473 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100479762-100840597 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100762840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 480 (H480Q)

Ref Sequence

ENSEMBL: ENSMUSP00000116205 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041418] [ENSMUST00000123302] [ENSMUST00000129269] [ENSMUST00000155108]

AlphaFold

Q9D3E6

Predicted Effect

probably damaging
Transcript: ENSMUST00000041418
AA Change: H480Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000040724
Gene: ENSMUSG00000037286
AA Change: H480Q

Domain	Start	End	E-Value	Type
low complexity region	32	44	N/A	INTRINSIC
low complexity region	59	72	N/A	INTRINSIC
Pfam:STAG	157	276	1.5e-50	PFAM
SCOP:d1qbkb_	279	850	4e-5	SMART
low complexity region	1062	1081	N/A	INTRINSIC
low complexity region	1107	1120	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123302

SMART Domains

Protein: ENSMUSP00000117879
Gene: ENSMUSG00000037286

Domain	Start	End	E-Value	Type
low complexity region	32	44	N/A	INTRINSIC
low complexity region	59	72	N/A	INTRINSIC
Pfam:STAG	157	276	2.9e-51	PFAM
low complexity region	303	315	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000129269
AA Change: H480Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116205
Gene: ENSMUSG00000037286
AA Change: H480Q

Domain	Start	End	E-Value	Type
low complexity region	32	44	N/A	INTRINSIC
low complexity region	59	72	N/A	INTRINSIC
Pfam:STAG	160	274	3.8e-41	PFAM
SCOP:d1qbkb_	279	850	3e-5	SMART
low complexity region	1062	1081	N/A	INTRINSIC
low complexity region	1107	1120	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000120974
Gene: ENSMUSG00000037286
AA Change: H90Q

Domain	Start	End	E-Value	Type
low complexity region	673	692	N/A	INTRINSIC
low complexity region	718	731	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155108

SMART Domains

Protein: ENSMUSP00000118952
Gene: ENSMUSG00000037286

Domain	Start	End	E-Value	Type
low complexity region	32	44	N/A	INTRINSIC
low complexity region	59	72	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (33/33)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the SCC3 family and is expressed in the nucleus. It encodes a component of cohesin, a multisubunit protein complex that provides sister chromatid cohesion along the length of a chromosome from DNA replication through prophase and prometaphase, after which it is dissociated in preparation for segregation during anaphase. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mouse embryos homozygous for a null mutation show developmental delay and die before birth. Heterozygous animals have shorter lifespan and earlier onset of tumourigenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930583I09Rik	T	C	17: 65,141,513 (GRCm39)	D30G	unknown	Het
Acad12	T	C	5: 121,745,538 (GRCm39)	D251G	probably damaging	Het
Adamts15	T	A	9: 30,816,085 (GRCm39)	T625S	probably damaging	Het
Atg13	A	T	2: 91,518,993 (GRCm39)	L151M	probably damaging	Het
Atp5f1a	T	C	18: 77,867,625 (GRCm39)	F250L	probably damaging	Het
Blnk	T	C	19: 40,940,854 (GRCm39)	E183G	possibly damaging	Het
Csf3	T	C	11: 98,592,928 (GRCm39)	L97P	probably damaging	Het
Derl2	A	G	11: 70,910,035 (GRCm39)	Y10H	probably damaging	Het
Dgkb	A	G	12: 38,234,939 (GRCm39)	N435D	probably damaging	Het
Dpy19l2	C	A	9: 24,492,526 (GRCm39)	V691L	probably benign	Het
Exoc5	T	C	14: 49,256,860 (GRCm39)	S509G	probably null	Het
Fancg	A	G	4: 43,004,963 (GRCm39)	I410T	probably damaging	Het
Fsip2	G	A	2: 82,777,336 (GRCm39)	G121D	probably damaging	Het
Gfm1	T	C	3: 67,361,051 (GRCm39)	S458P	possibly damaging	Het
Gm6882	A	T	7: 21,161,440 (GRCm39)	Y143N	probably damaging	Het
Grm5	T	A	7: 87,252,278 (GRCm39)	M176K	probably damaging	Het
Herc6	T	A	6: 57,624,099 (GRCm39)	V623D	probably damaging	Het
Hmcn1	G	T	1: 150,479,551 (GRCm39)	P4638T	possibly damaging	Het
Il27ra	A	G	8: 84,768,735 (GRCm39)	Y62H	probably benign	Het
Kcnh8	A	T	17: 53,285,320 (GRCm39)	S1097C	probably benign	Het
Kif19a	T	G	11: 114,678,377 (GRCm39)	S677A	probably damaging	Het
Lrrc37	T	C	11: 103,434,266 (GRCm39)	T792A	unknown	Het
Or8d4	T	C	9: 40,038,506 (GRCm39)	I250M	probably benign	Het
Pcdhgb7	T	A	18: 37,886,852 (GRCm39)	V674D	probably benign	Het
Pik3r6	A	G	11: 68,417,207 (GRCm39)	S50G	probably benign	Het
Ptpn12	T	C	5: 21,203,357 (GRCm39)	T474A	probably benign	Het
Rbbp6	T	C	7: 122,600,421 (GRCm39)		probably benign	Het
Scaper	T	C	9: 55,458,131 (GRCm39)	Y880C	probably damaging	Het
Smc5	A	T	19: 23,221,446 (GRCm39)	V361D	probably benign	Het
Tdpoz2	T	C	3: 93,559,153 (GRCm39)	E273G	probably damaging	Het
Tdpoz3	T	A	3: 93,733,870 (GRCm39)	W182R	possibly damaging	Het
Tmx4	T	C	2: 134,451,444 (GRCm39)	T170A	probably benign	Het
Vmn1r59	A	T	7: 5,457,064 (GRCm39)	M232K	possibly damaging	Het
Wdr20rt	A	G	12: 65,273,380 (GRCm39)	D180G	probably damaging	Het

Other mutations in Stag1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00649:Stag1	APN	9	100,658,861 (GRCm39)	missense	probably damaging	1.00
IGL01010:Stag1	APN	9	100,827,986 (GRCm39)	missense	probably benign	0.06
IGL01012:Stag1	APN	9	100,737,912 (GRCm39)	missense	possibly damaging	0.47
IGL01025:Stag1	APN	9	100,833,710 (GRCm39)	missense	possibly damaging	0.95
IGL01307:Stag1	APN	9	100,833,841 (GRCm39)	intron	probably benign
IGL02149:Stag1	APN	9	100,769,442 (GRCm39)	missense	probably benign	0.09
IGL02608:Stag1	APN	9	100,639,822 (GRCm39)	missense	probably null	0.99
IGL03008:Stag1	APN	9	100,658,844 (GRCm39)	missense	probably damaging	1.00
IGL03210:Stag1	APN	9	100,727,129 (GRCm39)	missense	possibly damaging	0.63
eto_o	UTSW	9	100,678,769 (GRCm39)	missense	probably damaging	1.00
PIT4280001:Stag1	UTSW	9	100,824,769 (GRCm39)	missense	possibly damaging	0.95
R0070:Stag1	UTSW	9	100,838,461 (GRCm39)	missense	probably null	1.00
R0070:Stag1	UTSW	9	100,838,461 (GRCm39)	missense	probably null	1.00
R0349:Stag1	UTSW	9	100,658,837 (GRCm39)	missense	probably damaging	0.98
R0479:Stag1	UTSW	9	100,810,144 (GRCm39)	missense	probably benign	0.00
R0531:Stag1	UTSW	9	100,836,300 (GRCm39)	makesense	probably null
R0962:Stag1	UTSW	9	100,678,880 (GRCm39)	missense	probably damaging	1.00
R0976:Stag1	UTSW	9	100,812,069 (GRCm39)	critical splice donor site	probably null
R0976:Stag1	UTSW	9	100,658,877 (GRCm39)	missense	probably damaging	0.98
R1170:Stag1	UTSW	9	100,770,506 (GRCm39)	intron	probably benign
R1499:Stag1	UTSW	9	100,769,426 (GRCm39)	intron	probably benign
R1499:Stag1	UTSW	9	100,737,885 (GRCm39)	missense	possibly damaging	0.77
R1644:Stag1	UTSW	9	100,762,953 (GRCm39)	intron	probably benign
R1747:Stag1	UTSW	9	100,770,353 (GRCm39)	missense	probably benign
R1799:Stag1	UTSW	9	100,835,515 (GRCm39)	splice site	probably null
R1807:Stag1	UTSW	9	100,790,719 (GRCm39)	missense	probably benign	0.34
R1978:Stag1	UTSW	9	100,770,139 (GRCm39)	missense	probably benign	0.03
R2029:Stag1	UTSW	9	100,668,740 (GRCm39)	missense	probably damaging	1.00
R2161:Stag1	UTSW	9	100,771,648 (GRCm39)	missense	probably damaging	1.00
R2300:Stag1	UTSW	9	100,594,553 (GRCm39)	missense	possibly damaging	0.92
R2327:Stag1	UTSW	9	100,668,666 (GRCm39)	missense	possibly damaging	0.81
R2426:Stag1	UTSW	9	100,727,169 (GRCm39)	critical splice donor site	probably null
R2448:Stag1	UTSW	9	100,770,462 (GRCm39)	missense	probably benign	0.42
R2504:Stag1	UTSW	9	100,748,263 (GRCm39)	missense	probably damaging	0.99
R3713:Stag1	UTSW	9	100,771,671 (GRCm39)	missense	probably benign	0.01
R3835:Stag1	UTSW	9	100,620,035 (GRCm39)	missense	probably damaging	0.97
R3862:Stag1	UTSW	9	100,826,838 (GRCm39)	missense	probably benign	0.02
R4398:Stag1	UTSW	9	100,838,659 (GRCm39)	utr 3 prime	probably benign
R4568:Stag1	UTSW	9	100,730,722 (GRCm39)	missense	probably damaging	1.00
R4651:Stag1	UTSW	9	100,678,769 (GRCm39)	missense	probably damaging	1.00
R4652:Stag1	UTSW	9	100,678,769 (GRCm39)	missense	probably damaging	1.00
R4653:Stag1	UTSW	9	100,678,769 (GRCm39)	missense	probably damaging	1.00
R4675:Stag1	UTSW	9	100,730,758 (GRCm39)	missense	probably damaging	1.00
R4709:Stag1	UTSW	9	100,620,092 (GRCm39)	missense	probably damaging	0.99
R4924:Stag1	UTSW	9	100,678,808 (GRCm39)	missense	possibly damaging	0.67
R5018:Stag1	UTSW	9	100,833,672 (GRCm39)	missense	probably benign	0.00
R5435:Stag1	UTSW	9	100,835,603 (GRCm39)	missense	probably benign	0.03
R5460:Stag1	UTSW	9	100,838,506 (GRCm39)	splice site	probably null
R5805:Stag1	UTSW	9	100,678,831 (GRCm39)	missense	probably damaging	1.00
R6127:Stag1	UTSW	9	100,833,750 (GRCm39)	missense	probably benign	0.05
R6313:Stag1	UTSW	9	100,639,786 (GRCm39)	missense	probably damaging	1.00
R6597:Stag1	UTSW	9	100,769,473 (GRCm39)	missense	probably benign	0.01
R6807:Stag1	UTSW	9	100,826,903 (GRCm39)	missense	probably damaging	1.00
R7099:Stag1	UTSW	9	100,826,879 (GRCm39)	missense	probably benign	0.02
R7167:Stag1	UTSW	9	100,827,942 (GRCm39)	missense	probably benign	0.05
R7395:Stag1	UTSW	9	100,678,781 (GRCm39)	missense	probably damaging	0.99
R7504:Stag1	UTSW	9	100,770,381 (GRCm39)	missense	probably benign	0.09
R7663:Stag1	UTSW	9	100,620,191 (GRCm39)	missense	probably damaging	0.98
R7769:Stag1	UTSW	9	100,826,880 (GRCm39)	missense	possibly damaging	0.86
R8245:Stag1	UTSW	9	100,811,946 (GRCm39)	missense	probably benign	0.01
R8343:Stag1	UTSW	9	100,639,819 (GRCm39)	missense	possibly damaging	0.95
R8709:Stag1	UTSW	9	100,772,975 (GRCm39)	intron	probably benign
R8925:Stag1	UTSW	9	100,587,298 (GRCm39)	missense	possibly damaging	0.46
R8927:Stag1	UTSW	9	100,587,298 (GRCm39)	missense	possibly damaging	0.46
R8951:Stag1	UTSW	9	100,762,854 (GRCm39)	missense	probably damaging	1.00
R9138:Stag1	UTSW	9	100,829,335 (GRCm39)	missense	probably benign	0.01
R9233:Stag1	UTSW	9	100,812,024 (GRCm39)	missense	probably benign	0.00
R9246:Stag1	UTSW	9	100,770,329 (GRCm39)	missense	probably benign	0.00
R9419:Stag1	UTSW	9	100,811,967 (GRCm39)	missense	probably benign
R9442:Stag1	UTSW	9	100,836,306 (GRCm39)	missense	probably damaging	1.00
R9694:Stag1	UTSW	9	100,810,151 (GRCm39)	missense	probably benign	0.05
R9740:Stag1	UTSW	9	100,587,288 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCACAGGCACGAGTCATTGG -3'
(R):5'- CACCTTGTGTAGCATAGTTATTGTG -3'

Sequencing Primer
(F):5'- CTGCATAATATGTCATAGCATGTGG -3'
(R):5'- CTCCTTGAACAGGTTCTTC -3'

Posted On

2021-01-18