Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03365:Sap30bp'

420062

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sap30bp

Ensembl Gene

ENSMUSG00000020755

Gene Name

SAP30 binding protein

Synonyms

Hcngp, 2700016D05Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03365

Quality Score

Status

Chromosome

Chromosomal Location

115933282-115966725 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 115964252 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 263 (V263M)

Ref Sequence

ENSEMBL: ENSMUSP00000114844 (fasta)

Gene Model

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

AlphaFold

Q02614

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000021101

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140991
AA Change: V263M

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114844
Gene: ENSMUSG00000020755
AA Change: V263M

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

Coding Region Coverage

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	T	G	5: 24,997,811		probably benign	Het
5830411N06Rik	T	A	7: 140,296,769	V691E	probably damaging	Het
Adam6a	T	A	12: 113,544,145	I46N	possibly damaging	Het
Adipor1	A	G	1: 134,431,642	D371G	possibly damaging	Het
Akr1c21	C	T	13: 4,583,852	P307S	probably benign	Het
Asxl1	T	A	2: 153,401,754	I1408N	probably damaging	Het
Avil	T	C	10: 127,010,983	V472A	probably damaging	Het
Bpifa6	C	A	2: 153,989,284	Q257K	possibly damaging	Het
Cacna2d4	G	T	6: 119,271,264	V380L	probably benign	Het
Clip1	A	C	5: 123,583,586	S1111A	probably damaging	Het
Dennd4c	A	G	4: 86,807,426		probably null	Het
Dock8	C	T	19: 25,099,684	P506L	possibly damaging	Het
Ecsit	A	C	9: 22,076,526	H72Q	probably damaging	Het
Eif1b	T	A	9: 120,494,120	D15E	probably benign	Het
Enpp1	A	G	10: 24,669,025	Y319H	probably damaging	Het
Fam126a	A	T	5: 23,983,160	Y245N	probably benign	Het
Fat3	T	C	9: 15,996,469	N2746D	probably damaging	Het
Fgf20	G	T	8: 40,279,891	L115I	possibly damaging	Het
Hip1r	C	T	5: 124,000,167	R775W	probably damaging	Het
Lrp12	A	T	15: 39,872,521	S672T	probably benign	Het
Morf4l2	A	G	X: 136,733,715	Y255H	probably benign	Het
Mri1	A	G	8: 84,251,633	V343A	possibly damaging	Het
Mybphl	T	A	3: 108,364,998	M1K	probably null	Het
Nelfcd	G	A	2: 174,426,832	A559T	possibly damaging	Het
Ofd1	C	A	X: 166,392,516	V951F	probably damaging	Het
Olfr1301	G	T	2: 111,754,427	M59I	possibly damaging	Het
Olfr550	G	T	7: 102,578,629	V45F	probably benign	Het
Olfr784	T	A	10: 129,388,239	V202D	possibly damaging	Het
Parp12	G	A	6: 39,102,647	R310W	probably damaging	Het
Pcdh11x	T	A	X: 120,516,238	D1019E	probably benign	Het
Ppp1r9a	T	A	6: 5,110,993		probably benign	Het
Ptprz1	T	A	6: 23,030,582		probably benign	Het
Qser1	T	A	2: 104,786,999	N1156I	probably damaging	Het
Rgs3	T	A	4: 62,689,675	D59E	probably benign	Het
Rims2	T	C	15: 39,476,541	F917S	probably damaging	Het
Scfd2	G	T	5: 74,530,935	H229N	possibly damaging	Het
Sspo	T	C	6: 48,459,415	V1233A	possibly damaging	Het
Stam	T	A	2: 14,146,390	Y519*	probably null	Het
Svs1	A	G	6: 48,988,597	D513G	probably damaging	Het
Synj2	A	G	17: 6,019,404	T602A	probably damaging	Het
Tas2r126	C	T	6: 42,435,457	A308V	probably benign	Het
Tm4sf20	T	C	1: 82,768,227		probably benign	Het
Ttc23	G	A	7: 67,662,337		probably benign	Het
Vmn1r90	T	C	7: 14,561,304	I290V	probably damaging	Het
Xirp1	A	C	9: 120,018,539	L426W	probably damaging	Het
Zgrf1	T	G	3: 127,598,774	F430L	possibly damaging	Het

Other mutations in Sap30bp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01302:Sap30bp	APN	11	115962547	missense	probably damaging	1.00
IGL03089:Sap30bp	APN	11	115957388	missense	possibly damaging	0.47
R0374:Sap30bp	UTSW	11	115964277	missense	probably damaging	0.99
R0634:Sap30bp	UTSW	11	115957403	missense	probably damaging	1.00
R1736:Sap30bp	UTSW	11	115964220	missense	probably damaging	1.00
R6996:Sap30bp	UTSW	11	115933488	start gained	probably benign
R7465:Sap30bp	UTSW	11	115951968	missense	probably benign
RF024:Sap30bp	UTSW	11	115960507	missense	probably damaging	1.00

Posted On

2016-08-02