Mutagenetix > Incidental Mutation

Incidental Mutation 'R0374:Sap30bp'

38532

Institutional Source

Beutler Lab

Gene Symbol

Sap30bp

Ensembl Gene

ENSMUSG00000020755

Gene Name

SAP30 binding protein

Synonyms

2700016D05Rik, Hcngp

MMRRC Submission

038580-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0374 (G1)

Quality Score

164

Status

Validated

Chromosome

Chromosomal Location

115824477-115857547 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115855103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 271 (I271N)

Ref Sequence

ENSEMBL: ENSMUSP00000114844 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000140991]

AlphaFold

Q02614

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000021101

Predicted Effect

probably damaging
Transcript: ENSMUST00000140991
AA Change: I271N

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

SMART Domains

Protein: ENSMUSP00000114844
Gene: ENSMUSG00000020755
AA Change: I271N

Domain	Start	End	E-Value	Type
SCOP:d1qbkb_	4	81	2e-3	SMART
Pfam:HCNGP	119	213	6.5e-38	PFAM
low complexity region	224	248	N/A	INTRINSIC
low complexity region	263	289	N/A	INTRINSIC

Meta Mutation Damage Score

0.1060

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

99% (69/70)

MGI Phenotype

PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit anemia at E16. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano9	A	G	7: 140,687,727 (GRCm39)	I267T	probably damaging	Het
Anxa6	T	A	11: 54,896,654 (GRCm39)	N168I	probably benign	Het
Apbb1ip	A	G	2: 22,709,717 (GRCm39)		probably benign	Het
Aqr	G	A	2: 113,961,092 (GRCm39)	H723Y	probably damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
Car13	A	G	3: 14,721,357 (GRCm39)		probably benign	Het
Casp9	T	A	4: 141,534,484 (GRCm39)	I298N	possibly damaging	Het
Ccdc66	T	C	14: 27,220,430 (GRCm39)	E261G	probably damaging	Het
Cep192	T	A	18: 67,951,954 (GRCm39)	Y376*	probably null	Het
Cped1	T	A	6: 22,222,545 (GRCm39)		probably benign	Het
Ctbp2	A	T	7: 132,601,073 (GRCm39)	S563R	possibly damaging	Het
Ctdp1	A	G	18: 80,490,637 (GRCm39)		probably null	Het
Dgka	G	C	10: 128,556,952 (GRCm39)		probably benign	Het
Drd2	A	G	9: 49,311,084 (GRCm39)	T112A	probably benign	Het
Dusp1	A	G	17: 26,727,143 (GRCm39)	V52A	probably damaging	Het
Eea1	T	A	10: 95,875,634 (GRCm39)		probably benign	Het
Etfrf1	T	C	6: 145,161,288 (GRCm39)	V86A	probably benign	Het
Fbn1	A	T	2: 125,163,596 (GRCm39)	C2087S	possibly damaging	Het
Fosb	T	G	7: 19,041,075 (GRCm39)	R139S	probably damaging	Het
Foxm1	C	T	6: 128,349,566 (GRCm39)	R362W	probably damaging	Het
Frem2	A	G	3: 53,561,381 (GRCm39)	V1042A	probably damaging	Het
Gbe1	A	G	16: 70,280,802 (GRCm39)	H401R	probably benign	Het
Gm10549	C	T	18: 33,597,235 (GRCm39)		probably benign	Het
Golga7b	A	T	19: 42,251,758 (GRCm39)		probably benign	Het
H2-DMb1	T	C	17: 34,378,399 (GRCm39)	V235A	probably benign	Het
Hr	A	G	14: 70,793,916 (GRCm39)	T59A	probably benign	Het
Itpr2	C	A	6: 146,260,890 (GRCm39)	A588S	probably benign	Het
Kmt2c	G	A	5: 25,514,706 (GRCm39)	P3046S	probably damaging	Het
Lamc1	G	A	1: 153,126,811 (GRCm39)		probably benign	Het
Lrp2	A	G	2: 69,260,651 (GRCm39)	Y4527H	probably damaging	Het
Map3k2	G	A	18: 32,345,226 (GRCm39)		probably null	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Nfs1	C	G	2: 155,974,580 (GRCm39)	G212R	probably damaging	Het
Nol8	C	T	13: 49,815,923 (GRCm39)	A677V	possibly damaging	Het
Nrap	T	A	19: 56,340,054 (GRCm39)	Y740F	probably damaging	Het
Nup205	T	A	6: 35,185,772 (GRCm39)	M859K	probably damaging	Het
Nxf1	T	C	19: 8,745,103 (GRCm39)	F451S	possibly damaging	Het
Or5an1c	A	T	19: 12,218,505 (GRCm39)	N173K	probably damaging	Het
Or6c6c	G	A	10: 129,541,516 (GRCm39)	M256I	probably benign	Het
Pcdhac2	T	C	18: 37,278,720 (GRCm39)	Y567H	probably damaging	Het
Phlpp2	C	T	8: 110,634,145 (GRCm39)	R242W	probably damaging	Het
Pi4ka	A	G	16: 17,100,796 (GRCm39)		probably benign	Het
Pmpcb	A	G	5: 21,953,829 (GRCm39)	D359G	probably damaging	Het
Poll	T	G	19: 45,546,309 (GRCm39)	S244R	probably benign	Het
Prkd3	T	C	17: 79,264,644 (GRCm39)	D657G	probably null	Het
Prune2	G	A	19: 17,098,274 (GRCm39)	M1259I	probably benign	Het
Ptpra	T	A	2: 130,379,541 (GRCm39)	M329K	probably damaging	Het
Rbm10	GGGAGGAGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGGAG	GGGAGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGGAG	X: 20,503,798 (GRCm39)		probably benign	Het
Rbm15	G	T	3: 107,237,880 (GRCm39)	D839E	probably damaging	Het
Scart2	T	A	7: 139,828,874 (GRCm39)	C178S	probably damaging	Het
Scn3a	A	T	2: 65,338,918 (GRCm39)	V587E	probably damaging	Het
Setdb1	A	T	3: 95,232,164 (GRCm39)		probably benign	Het
Sgk3	T	A	1: 9,949,306 (GRCm39)		probably null	Het
Shox2	A	T	3: 66,881,184 (GRCm39)	H265Q	probably damaging	Het
Slc9a2	T	C	1: 40,783,017 (GRCm39)	F427S	possibly damaging	Het
Smarca5	T	A	8: 81,463,360 (GRCm39)	Q69H	probably benign	Het
Specc1l	T	A	10: 75,084,293 (GRCm39)	F672Y	probably damaging	Het
Ssh2	T	A	11: 77,298,969 (GRCm39)	S105R	probably damaging	Het
Syne2	C	T	12: 75,968,000 (GRCm39)	R917*	probably null	Het
Tbc1d2	G	A	4: 46,649,913 (GRCm39)	T41M	possibly damaging	Het
Tbx18	T	A	9: 87,606,408 (GRCm39)	I246F	probably damaging	Het
Tcf4	T	A	18: 69,814,883 (GRCm39)		probably benign	Het
Tmed2	C	A	5: 124,679,502 (GRCm39)		probably null	Het
Tmem243	A	T	5: 9,151,361 (GRCm39)	D15V	possibly damaging	Het
Vmn2r87	T	A	10: 130,307,848 (GRCm39)	S797C	probably damaging	Het
Vps13c	T	A	9: 67,793,528 (GRCm39)		probably benign	Het
Wls	T	A	3: 159,603,074 (GRCm39)	C162*	probably null	Het
Zbtb7c	C	T	18: 76,270,464 (GRCm39)	T184I	probably benign	Het
Zc3h13	A	G	14: 75,546,405 (GRCm39)	K169E	probably damaging	Het

Other mutations in Sap30bp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01302:Sap30bp	APN	11	115,853,373 (GRCm39)	missense	probably damaging	1.00
IGL03089:Sap30bp	APN	11	115,848,214 (GRCm39)	missense	possibly damaging	0.47
IGL03365:Sap30bp	APN	11	115,855,078 (GRCm39)	missense	possibly damaging	0.75
R0634:Sap30bp	UTSW	11	115,848,229 (GRCm39)	missense	probably damaging	1.00
R1736:Sap30bp	UTSW	11	115,855,046 (GRCm39)	missense	probably damaging	1.00
R6996:Sap30bp	UTSW	11	115,824,314 (GRCm39)	start gained	probably benign
R7465:Sap30bp	UTSW	11	115,842,794 (GRCm39)	missense	probably benign
RF024:Sap30bp	UTSW	11	115,851,333 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCTAGAGAGGGTCTGTGCCAAG -3'
(R):5'- TGGGGAGTGCATCTCAGTCCTAAAC -3'

Sequencing Primer
(F):5'- CTGTGCCAAGCTCGCTC -3'
(R):5'- TCAGTCCTAAACACACAGAGTGG -3'

Posted On

2013-05-23