Mutagenetix > Incidental Mutation

Incidental Mutation 'R7823:Ssbp2'

602026

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

045877-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7823 (G1)

Quality Score

172.009

Status

Validated

Chromosome

Chromosomal Location

91608402-91851548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 91790448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 104 (L104I)

Ref Sequence

ENSEMBL: ENSMUSP00000004094 (fasta)

Gene Model

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

AlphaFold

Q9CYZ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004094
AA Change: L104I

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000004094
Gene: ENSMUSG00000003992
AA Change: L104I

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

probably benign
Transcript: ENSMUST00000231481
AA Change: L104I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Meta Mutation Damage Score

0.1061

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (68/69)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	G	14: 118,771,484 (GRCm39)	V869A	probably benign	Het
Alox15	C	A	11: 70,235,494 (GRCm39)	V623L	possibly damaging	Het
Angpt4	T	G	2: 151,753,286 (GRCm39)	L12R	unknown	Het
Cdh24	C	T	14: 54,874,875 (GRCm39)	A42T	probably damaging	Het
Cep250	T	A	2: 155,807,336 (GRCm39)	S234T	possibly damaging	Het
Clnk	T	A	5: 38,907,694 (GRCm39)	Y188F	probably benign	Het
Csmd2	A	T	4: 128,103,698 (GRCm39)	T306S		Het
Cyp2f2	G	A	7: 26,828,678 (GRCm39)	V183I	probably benign	Het
Dgka	T	A	10: 128,572,135 (GRCm39)	Y50F	probably benign	Het
Dgkh	C	T	14: 78,841,921 (GRCm39)	V434I	probably benign	Het
Epb41	A	G	4: 131,701,993 (GRCm39)		probably null	Het
Fam220a	A	G	5: 143,549,011 (GRCm39)	D141G	probably damaging	Het
Fbxo11	A	G	17: 88,300,610 (GRCm39)	L807S	probably damaging	Het
G530012D18Rik	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Ggt1	G	A	10: 75,410,175 (GRCm39)	V36M	possibly damaging	Het
Gjb2	T	C	14: 57,337,963 (GRCm39)	I82V	probably benign	Het
Gm7579	T	A	7: 141,766,307 (GRCm39)	C238S	unknown	Het
Hps1	G	A	19: 42,744,146 (GRCm39)	T681M	possibly damaging	Het
Iqck	T	C	7: 118,472,046 (GRCm39)	Y64H	probably damaging	Het
Ldlr	G	A	9: 21,653,602 (GRCm39)		probably null	Het
Macc1	A	C	12: 119,410,800 (GRCm39)	K523Q	probably damaging	Het
Mon2	A	T	10: 122,868,559 (GRCm39)	I498N	probably damaging	Het
Mphosph9	T	C	5: 124,442,319 (GRCm39)	E373G	probably damaging	Het
Mthfr	T	C	4: 148,135,944 (GRCm39)	I314T	probably benign	Het
Mtmr4	T	G	11: 87,503,015 (GRCm39)	I1023S	probably damaging	Het
Myo9a	T	A	9: 59,719,233 (GRCm39)	F507I	probably damaging	Het
Nlrp10	T	A	7: 108,523,468 (GRCm39)	M671L	probably benign	Het
Nt5c1a	T	C	4: 123,102,365 (GRCm39)	V97A	probably damaging	Het
Nxpe5	A	G	5: 138,237,844 (GRCm39)	R123G	possibly damaging	Het
Obscn	T	C	11: 58,998,766 (GRCm39)	S1369G	probably damaging	Het
Oga	A	G	19: 45,765,354 (GRCm39)	V151A	possibly damaging	Het
Or4a75	A	G	2: 89,447,613 (GRCm39)	*308Q	probably null	Het
Or52m2	A	G	7: 102,264,164 (GRCm39)	S11P	probably benign	Het
Or5b99	A	T	19: 12,976,781 (GRCm39)	I144F	probably damaging	Het
Or6c33	T	A	10: 129,854,136 (GRCm39)	M302K	probably benign	Het
Or6k2	A	G	1: 173,987,254 (GRCm39)	K305R	probably benign	Het
Or8b57	A	T	9: 40,003,644 (GRCm39)	V202E	probably damaging	Het
Pak6	G	A	2: 118,525,793 (GRCm39)	A618T	probably benign	Het
Pax7	T	A	4: 139,468,150 (GRCm39)	E489V	probably benign	Het
Phactr4	G	A	4: 132,088,930 (GRCm39)	R651*	probably null	Het
Pik3c2b	C	T	1: 133,030,043 (GRCm39)	R1435C	probably damaging	Het
Pla2g4c	A	T	7: 13,063,944 (GRCm39)	I68F	probably damaging	Het
Plppr1	A	G	4: 49,325,703 (GRCm39)	M300V	probably benign	Het
Ptgfrn	C	T	3: 100,950,725 (GRCm39)	V863I	probably damaging	Het
Rabep2	T	C	7: 126,037,893 (GRCm39)	S222P	probably damaging	Het
Ramacl	A	G	13: 67,055,351 (GRCm39)		probably benign	Het
Rbm20	A	T	19: 53,831,785 (GRCm39)	D673V	probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Scn4a	C	A	11: 106,233,334 (GRCm39)	A413S	probably damaging	Het
Scn9a	A	T	2: 66,314,135 (GRCm39)	M1850K	probably damaging	Het
Sh3tc2	T	A	18: 62,086,188 (GRCm39)	M1K	probably null	Het
Slc22a28	G	A	19: 8,041,890 (GRCm39)	T439I	probably benign	Het
Slc25a36	A	G	9: 96,966,444 (GRCm39)		probably null	Het
Smpd3	A	C	8: 106,982,254 (GRCm39)	C617G	probably benign	Het
Spata3	T	C	1: 85,949,781 (GRCm39)		probably benign	Het
Srp68	C	T	11: 116,156,265 (GRCm39)	R159Q	probably damaging	Het
St8sia3	T	A	18: 64,400,027 (GRCm39)	F7L	probably benign	Het
Stard9	T	C	2: 120,532,587 (GRCm39)	V2948A	probably damaging	Het
Syne4	A	G	7: 30,018,280 (GRCm39)	T341A	probably benign	Het
Tcf7l2	T	A	19: 55,731,521 (GRCm39)	D91E	possibly damaging	Het
Tekt5	T	A	16: 10,203,943 (GRCm39)	I236F	probably damaging	Het
Tlk2	T	C	11: 105,144,133 (GRCm39)	Y316H	probably damaging	Het
Tmem184b	C	T	15: 79,249,491 (GRCm39)	A326T	probably benign	Het
Tnks2	G	A	19: 36,829,954 (GRCm39)		probably null	Het
Trpc4	C	A	3: 54,209,640 (GRCm39)	Y668*	probably null	Het
Ttc9c	A	T	19: 8,793,286 (GRCm39)	F118Y	probably benign	Het
Ulk1	C	T	5: 110,946,780 (GRCm39)	C95Y	probably damaging	Het
Vars2	A	C	17: 35,970,028 (GRCm39)	L787R	probably damaging	Het
Vwa3a	T	C	7: 120,372,185 (GRCm39)	S254P	probably damaging	Het
Wdr81	T	C	11: 75,340,627 (GRCm39)	Y1250C	probably damaging	Het
Xirp2	A	T	2: 67,342,118 (GRCm39)	D1453V	probably damaging	Het
Zbtb38	A	T	9: 96,568,029 (GRCm39)	C1018*	probably null	Het
Zfp622	C	T	15: 25,984,709 (GRCm39)	T25M	probably damaging	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
R0190:Ssbp2	UTSW	13	91,817,829 (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
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'- GTTAATCTCAGGGCACGTGTAG -3'
(R):5'- TATATGAGTGACCAGCCCGAGC -3'

Sequencing Primer
(F):5'- CTCAGGGCACGTGTAGAGTGG -3'
(R):5'- CAAGAGTTGGCTGTACAGTATCAC -3'

Posted On

2019-12-03