Mutagenetix > Incidental Mutation

Incidental Mutation 'R0190:Ssbp2'

23183

Institutional Source

Beutler Lab

Gene Symbol

Ssbp2

Ensembl Gene

ENSMUSG00000003992

Gene Name

single-stranded DNA binding protein 2

Synonyms

9330163K02Rik, A830008M03Rik, Hspc116, Ssdp2, 2310079I02Rik, 1500004K09Rik

MMRRC Submission

038451-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0190 (G1)

Quality Score

193

Status

Validated (trace)

Chromosome

Chromosomal Location

91608402-91851548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91817829 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 156 (L156P)

Ref Sequence

ENSEMBL: ENSMUSP00000004094 (fasta)

Gene Model

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

AlphaFold

Q9CYZ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000004094
AA Change: L156P

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

SMART Domains

Protein: ENSMUSP00000004094
Gene: ENSMUSG00000003992
AA Change: L156P

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
AA Change: L126P

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000037115
Gene: ENSMUSG00000003992
AA Change: L126P

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
AA Change: L156P

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.1951

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 91.6%
20x: 72.5%

Validation Efficiency

75% (45/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	T	C	8: 46,966,429 (GRCm39)		probably null	Het
Aff2	CA	CAAA	X: 68,892,711 (GRCm39)		probably null	Het
Ankrd34a	A	G	3: 96,505,105 (GRCm39)	D103G	probably damaging	Het
Atp1b2	T	C	11: 69,492,388 (GRCm39)	D224G	probably damaging	Het
Atxn10	A	G	15: 85,220,730 (GRCm39)	D22G	possibly damaging	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
Caskin1	C	T	17: 24,723,596 (GRCm39)	L795F	possibly damaging	Het
Cdk12	T	C	11: 98,132,657 (GRCm39)		probably null	Het
Crtc2	A	G	3: 90,166,716 (GRCm39)	H91R	probably damaging	Het
Dbt	A	G	3: 116,332,736 (GRCm39)		probably null	Het
Dda1	C	A	8: 71,924,877 (GRCm39)	Y41*	probably null	Het
Dnah2	T	A	11: 69,326,075 (GRCm39)	D3692V	probably damaging	Het
Dpep1	A	G	8: 123,927,447 (GRCm39)	T334A	probably benign	Het
Enthd1	C	T	15: 80,418,695 (GRCm39)		probably null	Het
Fpr-rs6	T	A	17: 20,402,741 (GRCm39)	I207F	probably benign	Het
Fsip2	T	A	2: 82,815,521 (GRCm39)	S3751R	possibly damaging	Het
Gigyf2	A	T	1: 87,356,410 (GRCm39)		probably benign	Het
Gtf3c4	C	A	2: 28,730,140 (GRCm39)	D34Y	probably benign	Het
Iftap	G	A	2: 101,416,775 (GRCm39)	S58L	probably benign	Het
Igfn1	A	T	1: 135,889,790 (GRCm39)	V2419E	probably damaging	Het
Kank1	A	T	19: 25,386,647 (GRCm39)	I79L	probably benign	Het
Kif21b	A	G	1: 136,098,957 (GRCm39)	H1415R	probably benign	Het
Mad2l1	T	C	6: 66,516,862 (GRCm39)	S185P	possibly damaging	Het
Mettl18	A	G	1: 163,823,991 (GRCm39)	E104G	probably damaging	Het
Mrgprb2	G	A	7: 48,202,525 (GRCm39)	H67Y	possibly damaging	Het
Mrgprd	G	A	7: 144,875,439 (GRCm39)	M103I	probably benign	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Npc1	G	A	18: 12,324,887 (GRCm39)	T1202I	probably damaging	Het
Nucks1	A	G	1: 131,852,329 (GRCm39)	D60G	probably damaging	Het
Or10g7	A	G	9: 39,905,840 (GRCm39)	I245V	probably benign	Het
Or13f5	G	C	4: 52,825,613 (GRCm39)	W72S	probably damaging	Het
Or4a72	T	A	2: 89,405,302 (GRCm39)	Y256F	probably damaging	Het
Paqr8	A	G	1: 21,005,271 (GRCm39)	T142A	probably benign	Het
Pdss1	T	C	2: 22,796,843 (GRCm39)	S119P	probably damaging	Het
Plcl2	A	G	17: 50,914,671 (GRCm39)	D560G	probably benign	Het
Ppm1b	T	A	17: 85,301,531 (GRCm39)	V137E	probably damaging	Het
Ppp1r16b	A	C	2: 158,537,983 (GRCm39)	K35Q	probably damaging	Het
Prkd2	A	T	7: 16,603,815 (GRCm39)	E832V	probably damaging	Het
Rab34	G	T	11: 78,082,232 (GRCm39)	K191N	possibly damaging	Het
Rad51ap2	A	C	12: 11,508,540 (GRCm39)	T821P	probably benign	Het
Rbm19	A	G	5: 120,282,111 (GRCm39)	T823A	probably benign	Het
Rpf2	T	G	10: 40,103,597 (GRCm39)	H106P	probably damaging	Het
Schip1	A	G	3: 68,533,177 (GRCm39)	M453V	probably benign	Het
Sema5a	T	A	15: 32,562,920 (GRCm39)	N310K	possibly damaging	Het
Sf3b1	T	C	1: 55,029,465 (GRCm39)	D1179G	probably damaging	Het
Skint2	A	T	4: 112,473,729 (GRCm39)	T4S	possibly damaging	Het
Slc22a5	A	T	11: 53,760,241 (GRCm39)	Y358*	probably null	Het
Slc34a1	T	C	13: 55,556,914 (GRCm39)	M251T	probably benign	Het
Slc44a5	A	G	3: 153,944,755 (GRCm39)	D124G	probably null	Het
Slc9b1	G	A	3: 135,063,434 (GRCm39)	E73K	unknown	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Trim47	A	G	11: 115,997,053 (GRCm39)	V568A	probably damaging	Het
Ttn	A	T	2: 76,718,324 (GRCm39)		probably benign	Het
Ttpa	A	T	4: 20,021,260 (GRCm39)	I74F	probably damaging	Het
Vmn2r52	T	C	7: 9,905,315 (GRCm39)	I175V	probably benign	Het
Wrn	C	T	8: 33,731,011 (GRCm39)	C1350Y	probably benign	Het
Zfp11	C	T	5: 129,735,302 (GRCm39)	G53E	possibly damaging	Het
Zfp422	A	T	6: 116,603,572 (GRCm39)	D142E	probably damaging	Het
Zfp473	A	T	7: 44,382,612 (GRCm39)	C574S	probably damaging	Het
Zfp638	T	A	6: 83,905,946 (GRCm39)	M37K	probably damaging	Het
Zfp976	C	A	7: 42,291,948 (GRCm39)		probably benign	Het

Other mutations in Ssbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02656:Ssbp2	APN	13	91,817,871 (GRCm39)	splice site	probably benign
IGL02962:Ssbp2	APN	13	91,790,490 (GRCm39)	missense	possibly damaging	0.84
IGL03201:Ssbp2	APN	13	91,672,720 (GRCm39)	missense	probably damaging	1.00
R0277:Ssbp2	UTSW	13	91,712,715 (GRCm39)	splice site	probably benign
R0329:Ssbp2	UTSW	13	91,828,698 (GRCm39)	splice site	probably null
R0330:Ssbp2	UTSW	13	91,828,698 (GRCm39)	splice site	probably null
R1551:Ssbp2	UTSW	13	91,790,511 (GRCm39)	critical splice donor site	probably null
R1846:Ssbp2	UTSW	13	91,812,268 (GRCm39)	missense	probably damaging	1.00
R1957:Ssbp2	UTSW	13	91,812,303 (GRCm39)	splice site	probably benign
R3732:Ssbp2	UTSW	13	91,672,726 (GRCm39)	missense	probably damaging	1.00
R3744:Ssbp2	UTSW	13	91,828,765 (GRCm39)	splice site	probably benign
R4469:Ssbp2	UTSW	13	91,842,175 (GRCm39)	missense	probably damaging	1.00
R4665:Ssbp2	UTSW	13	91,687,454 (GRCm39)	missense	possibly damaging	0.48
R4724:Ssbp2	UTSW	13	91,836,933 (GRCm39)	missense	possibly damaging	0.70
R5477:Ssbp2	UTSW	13	91,812,244 (GRCm39)	missense	probably damaging	0.98
R6015:Ssbp2	UTSW	13	91,817,862 (GRCm39)	critical splice donor site	probably null
R6332:Ssbp2	UTSW	13	91,839,027 (GRCm39)	missense	probably benign	0.01
R6523:Ssbp2	UTSW	13	91,841,170 (GRCm39)	missense	probably benign	0.09
R6548:Ssbp2	UTSW	13	91,687,470 (GRCm39)	missense	possibly damaging	0.91
R6655:Ssbp2	UTSW	13	91,812,268 (GRCm39)	missense	probably damaging	1.00
R7227:Ssbp2	UTSW	13	91,823,244 (GRCm39)	missense	probably benign	0.00
R7295:Ssbp2	UTSW	13	91,842,122 (GRCm39)	splice site	probably null
R7401:Ssbp2	UTSW	13	91,839,002 (GRCm39)	missense	probably benign	0.43
R7488:Ssbp2	UTSW	13	91,823,209 (GRCm39)	missense	probably damaging	0.99
R7823:Ssbp2	UTSW	13	91,790,448 (GRCm39)	missense	possibly damaging	0.95
R8884:Ssbp2	UTSW	13	91,836,989 (GRCm39)	splice site	probably benign
R9147:Ssbp2	UTSW	13	91,842,141 (GRCm39)	missense	probably damaging	1.00
R9148:Ssbp2	UTSW	13	91,842,141 (GRCm39)	missense	probably damaging	1.00
R9182:Ssbp2	UTSW	13	91,848,800 (GRCm39)	missense	probably damaging	0.97
R9255:Ssbp2	UTSW	13	91,818,525 (GRCm39)	missense	possibly damaging	0.93
R9449:Ssbp2	UTSW	13	91,823,157 (GRCm39)	missense	probably benign	0.02
X0026:Ssbp2	UTSW	13	91,817,807 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- GGTTTGCAACTGTACCATCAGCCAA -3'
(R):5'- GTCACACACCGGCTTCAGACATT -3'

Sequencing Primer
(F):5'- GTACCATCAGCCAAAAACAAAATTTC -3'
(R):5'- CACCGGCTTCAGACATTTTAATATTC -3'

Posted On

2013-04-16