Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02656:Ssbp2'

302357

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ssbp2

Ensembl Gene

ENSMUSG00000003992

Gene Name

single-stranded DNA binding protein 2

Synonyms

Hspc116, 1500004K09Rik, 2310079I02Rik, 9330163K02Rik, A830008M03Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02656

Quality Score

Status

Chromosome

Chromosomal Location

91460283-91703429 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 91669752 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156076 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004094] [ENSMUST00000042122] [ENSMUST00000231481]

Predicted Effect

probably benign
Transcript: ENSMUST00000004094

SMART Domains

Protein: ENSMUSP00000004094
Gene: ENSMUSG00000003992

Domain	Start	End	E-Value	Type
LisH	18	50	2.18e-3	SMART
Pfam:SSDP	83	125	5.9e-19	PFAM
Pfam:SSDP	123	338	5.3e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000042122

SMART Domains

Protein: ENSMUSP00000037115
Gene: ENSMUSG00000003992

Domain	Start	End	E-Value	Type
LisH	18	50	2.18e-3	SMART
Pfam:SSDP	94	313	2.7e-102	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137493

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137658

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156547

Predicted Effect

probably benign
Transcript: ENSMUST00000231481

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of a protein complex that interacts with single-stranded DNA and is involved in the DNA damage response and maintenance of genome stability. The encoded protein may also play a role in telomere repair. A variant of this gene may be associated with survival in human glioblastoma patients. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice exhibit some perinatal lethality and premature death associated with increased incidence of lymphoma and carcinoma. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd28	G	T	14: 31,702,240	A981D	possibly damaging	Het
Ccdc69	G	T	11: 55,052,437	Q114K	possibly damaging	Het
Cct5	A	T	15: 31,597,430	D66E	probably damaging	Het
Ces2e	G	T	8: 104,927,056	R42I	possibly damaging	Het
Cib2	T	G	9: 54,545,898	D178A	probably damaging	Het
Cldn7	G	A	11: 69,967,008	V97I	probably benign	Het
Dok3	A	T	13: 55,528,480	I12N	probably damaging	Het
Fndc5	T	A	4: 129,139,446	V102E	probably damaging	Het
Gas2	T	C	7: 51,943,744	S191P	probably benign	Het
Herc6	T	A	6: 57,611,836		probably null	Het
Krt18	A	G	15: 102,030,922	T277A	probably benign	Het
Mpp3	A	G	11: 102,008,601	S365P	probably benign	Het
Msmo1	T	C	8: 64,727,872	T3A	probably benign	Het
Olfr1509	G	T	14: 52,450,709	A99S	possibly damaging	Het
Olfr1537	T	A	9: 39,238,160	E88V	probably benign	Het
Olfr394	A	G	11: 73,888,039	F111S	probably damaging	Het
Pex19	C	A	1: 172,130,685	A77E	probably benign	Het
Phf20l1	A	G	15: 66,629,827	D620G	probably damaging	Het
Prr5	A	G	15: 84,699,136	D105G	probably damaging	Het
Rab12	T	A	17: 66,506,054	K88M	probably damaging	Het
Rictor	T	C	15: 6,776,920	V673A	probably damaging	Het
Rps26	A	G	10: 128,625,257	S88P	possibly damaging	Het
Sema5a	T	A	15: 32,631,285	S605T	possibly damaging	Het
Slc35a4	T	C	18: 36,682,447	M110T	probably damaging	Het
Sowahb	T	C	5: 93,043,247	S538G	probably benign	Het
Srrt	T	A	5: 137,299,676		probably benign	Het
Supt20	C	T	3: 54,708,395	R236W	probably damaging	Het
Tenm4	A	G	7: 96,885,433	D1791G	probably damaging	Het
Tgm6	G	A	2: 130,145,103	G497D	probably damaging	Het
Trim12c	C	T	7: 104,341,203	V356I	probably damaging	Het
Vwce	T	A	19: 10,664,352	I814K	probably benign	Het

Other mutations in Ssbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02962:Ssbp2	APN	13	91642371	missense	possibly damaging	0.84
IGL03201:Ssbp2	APN	13	91524601	missense	probably damaging	1.00
R0190:Ssbp2	UTSW	13	91669710	missense	probably damaging	1.00
R0277:Ssbp2	UTSW	13	91564596	splice site	probably benign
R0329:Ssbp2	UTSW	13	91680579	splice site	probably null
R0330:Ssbp2	UTSW	13	91680579	splice site	probably null
R1551:Ssbp2	UTSW	13	91642392	critical splice donor site	probably null
R1846:Ssbp2	UTSW	13	91664149	missense	probably damaging	1.00
R1957:Ssbp2	UTSW	13	91664184	splice site	probably benign
R3732:Ssbp2	UTSW	13	91524607	missense	probably damaging	1.00
R3744:Ssbp2	UTSW	13	91680646	splice site	probably benign
R4469:Ssbp2	UTSW	13	91694056	missense	probably damaging	1.00
R4665:Ssbp2	UTSW	13	91539335	missense	possibly damaging	0.48
R4724:Ssbp2	UTSW	13	91688814	missense	possibly damaging	0.70
R5477:Ssbp2	UTSW	13	91664125	missense	probably damaging	0.98
R6015:Ssbp2	UTSW	13	91669743	critical splice donor site	probably null
R6332:Ssbp2	UTSW	13	91690908	missense	probably benign	0.01
R6523:Ssbp2	UTSW	13	91693051	missense	probably benign	0.09
R6548:Ssbp2	UTSW	13	91539351	missense	possibly damaging	0.91
R6655:Ssbp2	UTSW	13	91664149	missense	probably damaging	1.00
R7227:Ssbp2	UTSW	13	91675125	missense	probably benign	0.00
R7295:Ssbp2	UTSW	13	91694003	splice site	probably null
R7401:Ssbp2	UTSW	13	91690883	missense	probably benign	0.43
R7488:Ssbp2	UTSW	13	91675090	missense	probably damaging	0.99
R7823:Ssbp2	UTSW	13	91642329	missense	possibly damaging	0.95
X0026:Ssbp2	UTSW	13	91669688	missense	possibly damaging	0.70

Posted On

2015-04-16