Mutagenetix > Incidental Mutation

Incidental Mutation 'R8772:Sap130'

664507

Institutional Source

Beutler Lab

Gene Symbol

Sap130

Ensembl Gene

ENSMUSG00000024260

Gene Name

Sin3A associated protein

Synonyms

2610304F09Rik

MMRRC Submission

068626-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R8772 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31767424-31856114 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 31813517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Histidine at position 525 (D525H)

Ref Sequence

ENSEMBL: ENSMUSP00000025109 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025109] [ENSMUST00000178164]

AlphaFold

Q8BIH0

Predicted Effect

probably damaging
Transcript: ENSMUST00000025109
AA Change: D525H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025109
Gene: ENSMUSG00000024260
AA Change: D525H

Domain	Start	End	E-Value	Type
low complexity region	82	107	N/A	INTRINSIC
low complexity region	115	124	N/A	INTRINSIC
low complexity region	347	356	N/A	INTRINSIC
low complexity region	389	400	N/A	INTRINSIC
low complexity region	577	588	N/A	INTRINSIC
low complexity region	716	748	N/A	INTRINSIC
low complexity region	751	770	N/A	INTRINSIC
low complexity region	817	832	N/A	INTRINSIC
low complexity region	894	904	N/A	INTRINSIC
low complexity region	1044	1056	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000178164
AA Change: D525H

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

SMART Domains

Protein: ENSMUSP00000136842
Gene: ENSMUSG00000024260
AA Change: D525H

Domain	Start	End	E-Value	Type
low complexity region	82	107	N/A	INTRINSIC
low complexity region	115	124	N/A	INTRINSIC
low complexity region	347	356	N/A	INTRINSIC
low complexity region	389	400	N/A	INTRINSIC
low complexity region	577	588	N/A	INTRINSIC
Pfam:SAP130_C	635	1040	5.4e-224	PFAM
low complexity region	1045	1057	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

100% (83/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SAP130 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a transposon insertion are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	C	17: 45,827,903 (GRCm39)	V574A	probably benign	Het
AC157566.4	T	C	15: 76,418,449 (GRCm39)	Y20C	probably benign	Het
Acacb	A	T	5: 114,322,179 (GRCm39)	D231V	possibly damaging	Het
Acp7	C	T	7: 28,315,909 (GRCm39)	V226M	probably damaging	Het
Actr1a	A	G	19: 46,370,731 (GRCm39)		probably null	Het
Adamts16	T	C	13: 70,984,453 (GRCm39)	Y70C	probably damaging	Het
Adcy5	G	A	16: 35,119,958 (GRCm39)	A1156T	probably damaging	Het
Ago1	A	T	4: 126,354,316 (GRCm39)		probably benign	Het
Akap9	G	A	5: 4,096,255 (GRCm39)	E2377K	probably damaging	Het
Asic2	A	G	11: 81,858,713 (GRCm39)	S100P	probably benign	Het
Atp1a1	A	C	3: 101,487,124 (GRCm39)	V895G	probably benign	Het
B3gnt7	A	G	1: 86,233,294 (GRCm39)	E180G	possibly damaging	Het
Cacna1c	A	T	6: 118,579,283 (GRCm39)	F1805I		Het
Cacna1g	A	G	11: 94,356,713 (GRCm39)	I141T	probably benign	Het
Ccdc162	A	G	10: 41,506,033 (GRCm39)	L919P	probably damaging	Het
Cd47	A	G	16: 49,704,575 (GRCm39)	I116V		Het
Cdca2	A	T	14: 67,935,529 (GRCm39)	D395E	probably damaging	Het
Celsr2	A	T	3: 108,304,389 (GRCm39)	I2285N	possibly damaging	Het
Chil5	T	C	3: 105,925,536 (GRCm39)	D157G	probably damaging	Het
Ciita	A	T	16: 10,298,026 (GRCm39)	I7F	probably damaging	Het
Dok7	G	T	5: 35,234,593 (GRCm39)	G215C	probably damaging	Het
Eif2s2	T	C	2: 154,729,659 (GRCm39)	I88V	probably null	Het
Fasn	A	T	11: 120,711,362 (GRCm39)	D217E	probably benign	Het
Fgd5	T	A	6: 92,027,400 (GRCm39)	I1030N	probably damaging	Het
Fpr-rs6	T	A	17: 20,402,495 (GRCm39)	N289Y	probably damaging	Het
Gm10392	C	T	11: 77,409,280 (GRCm39)	V49I	possibly damaging	Het
Gtf3c2	A	T	5: 31,331,758 (GRCm39)	M20K	probably benign	Het
Hoga1	A	G	19: 42,034,384 (GRCm39)	M10V	probably benign	Het
Homer1	T	A	13: 93,528,239 (GRCm39)	V258E	probably damaging	Het
Ifitm2	A	G	7: 140,535,803 (GRCm39)	L9S	probably benign	Het
Iqgap3	G	A	3: 87,997,144 (GRCm39)	A176T	probably benign	Het
Itga8	C	G	2: 12,187,495 (GRCm39)	G728A	probably damaging	Het
Lyst	C	T	13: 13,812,077 (GRCm39)	Q830*	probably null	Het
Macc1	T	C	12: 119,411,220 (GRCm39)	W663R	probably damaging	Het
Mipol1	A	T	12: 57,372,418 (GRCm39)	H159L	probably benign	Het
Mocs1	T	A	17: 49,757,402 (GRCm39)		probably null	Het
Ncoa1	T	C	12: 4,372,940 (GRCm39)	T154A	possibly damaging	Het
Noxred1	A	C	12: 87,273,867 (GRCm39)	L58R	probably benign	Het
Opcml	T	C	9: 27,702,707 (GRCm39)	V9A	probably benign	Het
Or51e2	G	A	7: 102,392,210 (GRCm39)		probably benign	Het
Or5ac23	A	G	16: 59,149,051 (GRCm39)	S274P	probably damaging	Het
Or8c17	G	A	9: 38,180,231 (GRCm39)	V133I	probably benign	Het
Otog	A	T	7: 45,934,352 (GRCm39)	R1303S	probably damaging	Het
Parp11	T	A	6: 127,468,667 (GRCm39)	I322N	probably damaging	Het
Parp11	T	A	6: 127,447,726 (GRCm39)	M20K	possibly damaging	Het
Pde1b	T	C	15: 103,433,548 (GRCm39)		probably benign	Het
Pglyrp4	A	T	3: 90,647,707 (GRCm39)	T356S	possibly damaging	Het
Pitrm1	A	G	13: 6,628,596 (GRCm39)	D963G	probably damaging	Het
Plod3	T	C	5: 137,017,773 (GRCm39)	V183A	probably damaging	Het
Plxnb2	C	T	15: 89,046,949 (GRCm39)	V791M	probably damaging	Het
Poc1b	T	A	10: 98,992,219 (GRCm39)		probably benign	Het
Ppp1r7	A	G	1: 93,282,150 (GRCm39)	T234A	probably benign	Het
Pxdn	C	T	12: 30,065,463 (GRCm39)	T1441I	probably damaging	Het
Rap1gap2	T	C	11: 74,296,551 (GRCm39)	K479E	probably damaging	Het
Rars2	A	G	4: 34,623,488 (GRCm39)	D63G	probably benign	Het
Rptor	A	C	11: 119,615,858 (GRCm39)	D124A	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Ryr1	C	A	7: 28,815,557 (GRCm39)	R118L	probably benign	Het
Slc22a26	T	C	19: 7,767,477 (GRCm39)	N310D	probably benign	Het
Slc46a1	T	G	11: 78,356,777 (GRCm39)	N58K	probably benign	Het
Slc4a10	T	A	2: 62,134,284 (GRCm39)	I1000N	probably damaging	Het
Son	C	T	16: 91,454,826 (GRCm39)	T1191I	possibly damaging	Het
Sppl2a	T	C	2: 126,768,231 (GRCm39)	K146E	probably benign	Het
Srgap3	T	A	6: 112,743,906 (GRCm39)	K444I	probably damaging	Het
Sun1	T	C	5: 139,209,447 (GRCm39)	V59A	probably benign	Het
Sva	T	A	6: 42,015,443 (GRCm39)	Y37N	probably benign	Het
Taar8c	T	A	10: 23,977,705 (GRCm39)	M36L	probably benign	Het
Taf4b	C	T	18: 14,968,909 (GRCm39)	T682I	probably damaging	Het
Tbx5	T	A	5: 119,976,790 (GRCm39)	H59Q	probably benign	Het
Tdrd1	A	T	19: 56,843,760 (GRCm39)	Y746F	probably damaging	Het
Tmem132e	A	G	11: 82,325,137 (GRCm39)	S46G	probably damaging	Het
Tnfaip6	T	A	2: 51,941,077 (GRCm39)	V206E	possibly damaging	Het
Tpbpb	T	A	13: 61,049,193 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,768,025 (GRCm39)	K3025*	probably null	Het
Tulp4	T	A	17: 6,227,168 (GRCm39)	I106N	probably damaging	Het
Ubp1	T	A	9: 113,801,897 (GRCm39)	F454Y	probably benign	Het
Ugt2b37	A	T	5: 87,402,345 (GRCm39)	N95K	probably benign	Het
Vps13d	T	A	4: 144,801,602 (GRCm39)	R3539W		Het
Vsnl1	T	C	12: 11,382,180 (GRCm39)	H67R	probably damaging	Het
Zbbx	A	G	3: 75,062,692 (GRCm39)	Y22H	probably benign	Het
Zeb1	A	G	18: 5,770,382 (GRCm39)		probably null	Het
Zfp142	A	T	1: 74,610,825 (GRCm39)	L990Q	possibly damaging	Het
Zmiz1	G	A	14: 25,646,118 (GRCm39)	G265D	probably damaging	Het

Other mutations in Sap130

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Sap130	APN	18	31,831,819 (GRCm39)	missense	probably benign	0.00
IGL01060:Sap130	APN	18	31,848,496 (GRCm39)	missense	probably damaging	1.00
IGL01668:Sap130	APN	18	31,813,493 (GRCm39)	missense	probably damaging	0.97
IGL01797:Sap130	APN	18	31,831,721 (GRCm39)	missense	probably damaging	0.98
IGL01872:Sap130	APN	18	31,807,473 (GRCm39)	missense	probably damaging	0.98
IGL02010:Sap130	APN	18	31,782,655 (GRCm39)	missense	probably damaging	0.98
Beggar	UTSW	18	31,781,182 (GRCm39)	splice site	probably null
PIT4142001:Sap130	UTSW	18	31,800,064 (GRCm39)	critical splice donor site	probably null
PIT4366001:Sap130	UTSW	18	31,810,462 (GRCm39)	missense	probably benign	0.06
R0083:Sap130	UTSW	18	31,844,694 (GRCm39)	missense	probably damaging	1.00
R0083:Sap130	UTSW	18	31,799,382 (GRCm39)	splice site	probably benign
R0243:Sap130	UTSW	18	31,813,734 (GRCm39)	splice site	probably benign
R0255:Sap130	UTSW	18	31,813,559 (GRCm39)	missense	probably damaging	1.00
R0704:Sap130	UTSW	18	31,786,607 (GRCm39)	missense	probably damaging	0.99
R1069:Sap130	UTSW	18	31,844,682 (GRCm39)	missense	probably damaging	0.96
R1086:Sap130	UTSW	18	31,783,673 (GRCm39)	splice site	probably benign
R1162:Sap130	UTSW	18	31,781,226 (GRCm39)	missense	probably damaging	1.00
R1478:Sap130	UTSW	18	31,813,527 (GRCm39)	missense	possibly damaging	0.95
R1484:Sap130	UTSW	18	31,844,380 (GRCm39)	missense	probably damaging	1.00
R1554:Sap130	UTSW	18	31,799,525 (GRCm39)	missense	probably damaging	0.99
R1625:Sap130	UTSW	18	31,807,517 (GRCm39)	missense	probably damaging	0.99
R1771:Sap130	UTSW	18	31,769,135 (GRCm39)	missense	probably benign	0.10
R1793:Sap130	UTSW	18	31,831,640 (GRCm39)	missense	probably benign	0.10
R1905:Sap130	UTSW	18	31,813,620 (GRCm39)	missense	possibly damaging	0.67
R2026:Sap130	UTSW	18	31,831,627 (GRCm39)	missense	possibly damaging	0.81
R2074:Sap130	UTSW	18	31,781,332 (GRCm39)	missense	probably damaging	0.99
R2174:Sap130	UTSW	18	31,810,532 (GRCm39)	critical splice donor site	probably null
R3927:Sap130	UTSW	18	31,807,435 (GRCm39)	missense	possibly damaging	0.95
R4454:Sap130	UTSW	18	31,844,413 (GRCm39)	missense	probably damaging	1.00
R4980:Sap130	UTSW	18	31,782,699 (GRCm39)	missense	possibly damaging	0.95
R5222:Sap130	UTSW	18	31,799,756 (GRCm39)	missense	probably damaging	1.00
R5345:Sap130	UTSW	18	31,781,251 (GRCm39)	missense	probably benign	0.32
R5811:Sap130	UTSW	18	31,822,495 (GRCm39)	missense	probably benign	0.01
R6034:Sap130	UTSW	18	31,822,459 (GRCm39)	missense	possibly damaging	0.92
R6034:Sap130	UTSW	18	31,822,459 (GRCm39)	missense	possibly damaging	0.92
R6038:Sap130	UTSW	18	31,813,539 (GRCm39)	missense	probably damaging	0.99
R6038:Sap130	UTSW	18	31,813,539 (GRCm39)	missense	probably damaging	0.99
R6129:Sap130	UTSW	18	31,815,144 (GRCm39)	missense	possibly damaging	0.94
R6431:Sap130	UTSW	18	31,799,418 (GRCm39)	missense	possibly damaging	0.95
R6930:Sap130	UTSW	18	31,815,141 (GRCm39)	missense	possibly damaging	0.94
R6932:Sap130	UTSW	18	31,799,407 (GRCm39)	missense	possibly damaging	0.88
R7454:Sap130	UTSW	18	31,783,565 (GRCm39)	missense	probably benign	0.01
R7510:Sap130	UTSW	18	31,844,268 (GRCm39)	missense	probably damaging	0.99
R7510:Sap130	UTSW	18	31,800,057 (GRCm39)	missense	probably damaging	1.00
R7641:Sap130	UTSW	18	31,786,676 (GRCm39)	missense	probably damaging	0.99
R7870:Sap130	UTSW	18	31,853,714 (GRCm39)	missense	probably benign	0.15
R7980:Sap130	UTSW	18	31,781,182 (GRCm39)	splice site	probably null
R9135:Sap130	UTSW	18	31,780,116 (GRCm39)	missense	probably benign
R9639:Sap130	UTSW	18	31,844,789 (GRCm39)	critical splice donor site	probably null
X0021:Sap130	UTSW	18	31,780,129 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAAAACGCCCTGCTGTACC -3'
(R):5'- GTTAAACTTACCTGAGGTTTTCCCC -3'

Sequencing Primer
(F):5'- TGTACCCCCTACCCTACCCAG -3'
(R):5'- AGGTTTTCCCCTCAGGCTGTG -3'

Posted On

2021-03-08