Mutagenetix > Incidental Mutation

Incidental Mutation 'R0751:Ssb'

70303

Institutional Source

Beutler Lab

Gene Symbol

Ssb

Ensembl Gene

ENSMUSG00000068882

Gene Name

small RNA binding exonuclease protection factor La

Synonyms

SS-B, Sjogren syndrome antigen B, La protein, autoantigen La

MMRRC Submission

038931-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0751 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69691906-69702190 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69700909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 330 (S330T)

Ref Sequence

ENSEMBL: ENSMUSP00000130313 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060447] [ENSMUST00000090852] [ENSMUST00000112260] [ENSMUST00000132186] [ENSMUST00000142127] [ENSMUST00000166411]

AlphaFold

P32067

Predicted Effect

probably benign
Transcript: ENSMUST00000060447

SMART Domains

Protein: ENSMUSP00000050907
Gene: ENSMUSG00000051730

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
Pfam:Cons_hypoth95	21	184	1.8e-12	PFAM
Pfam:UPF0020	25	170	3.8e-8	PFAM
Pfam:PrmA	35	127	8.4e-14	PFAM
Pfam:MTS	36	174	2.2e-16	PFAM
Pfam:Methyltransf_31	49	199	4e-15	PFAM
Pfam:Methyltransf_18	51	171	8.1e-11	PFAM
Pfam:Methyltransf_15	52	179	1.1e-9	PFAM
Pfam:Methyltransf_26	52	182	3.9e-8	PFAM
Pfam:Methyltransf_25	55	171	5.2e-8	PFAM
Pfam:Methyltransf_11	56	131	8e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090852
AA Change: S330T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000088365
Gene: ENSMUSG00000068882
AA Change: S330T

Domain	Start	End	E-Value	Type
LA	11	92	2.19e-42	SMART
RRM	112	183	1.6e-4	SMART
Pfam:RRM_3	230	333	2.2e-32	PFAM
low complexity region	375	386	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112260

SMART Domains

Protein: ENSMUSP00000107879
Gene: ENSMUSG00000068882

Domain	Start	End	E-Value	Type
LA	11	92	2.19e-42	SMART
RRM	112	183	1.6e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132186

SMART Domains

Protein: ENSMUSP00000119773
Gene: ENSMUSG00000068882

Domain	Start	End	E-Value	Type
LA	11	92	2.19e-42	SMART
Pfam:RRM_1	113	154	2.6e-6	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000132603
AA Change: S145T

SMART Domains

Protein: ENSMUSP00000115666
Gene: ENSMUSG00000068882
AA Change: S145T

Domain	Start	End	E-Value	Type
Pfam:RRM_3	46	149	2.5e-33	PFAM
low complexity region	190	201	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135459

Predicted Effect

probably benign
Transcript: ENSMUST00000142127

SMART Domains

Protein: ENSMUSP00000121474
Gene: ENSMUSG00000051730

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
Pfam:Cons_hypoth95	21	141	8.7e-12	PFAM
Pfam:UPF0020	24	141	1.4e-11	PFAM
Pfam:Methyltransf_16	31	126	5e-7	PFAM
Pfam:PrmA	34	127	4e-15	PFAM
Pfam:MTS	35	141	1.4e-17	PFAM
Pfam:Methyltransf_31	49	142	5.2e-15	PFAM
Pfam:Methyltransf_18	51	141	1.4e-11	PFAM
Pfam:Methyltransf_15	52	140	4.5e-9	PFAM
Pfam:Methyltransf_26	52	140	1.3e-14	PFAM
Pfam:Methyltransf_25	55	142	4.7e-8	PFAM
Pfam:Methyltransf_11	56	134	3.8e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166411
AA Change: S330T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130313
Gene: ENSMUSG00000068882
AA Change: S330T

Domain	Start	End	E-Value	Type
LA	11	92	2.19e-42	SMART
RRM	112	183	1.6e-4	SMART
Pfam:RRM_3	230	333	1.9e-35	PFAM
low complexity region	375	386	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156057

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149283

Meta Mutation Damage Score

0.0770

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 94.4%

Validation Efficiency

99% (73/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in diverse aspects of RNA metabolism, including binding and protecting poly(U) termini of nascent RNA polymerase III transcripts from exonuclease digestion, processing 5' and 3' ends of pre-tRNA precursors, acting as an RNA chaperone, and binding viral RNAs associated with hepatitis C virus. Autoantibodies reacting with this protein are found in the sera of patients with Sjogren syndrome and systemic lupus erythematosus. Alternative promoter usage results in two different transcript variants which encode the same protein. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos, possible before implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	T	A	4: 132,792,707 (GRCm39)	M1316K	probably benign	Het
Alox12	T	C	11: 70,137,776 (GRCm39)	I455V	probably benign	Het
Ankrd28	A	G	14: 31,486,225 (GRCm39)	L89P	probably damaging	Het
Aqp9	A	T	9: 71,045,487 (GRCm39)	C41S	probably damaging	Het
Arhgap17	T	C	7: 122,913,913 (GRCm39)	Y199C	probably damaging	Het
Aspm	A	T	1: 139,384,636 (GRCm39)		probably benign	Het
Cacfd1	T	C	2: 26,908,993 (GRCm39)		probably null	Het
Cd33	T	C	7: 43,181,545 (GRCm39)	D205G	probably damaging	Het
Chadl	T	C	15: 81,577,258 (GRCm39)	S198G	probably benign	Het
Chtf8	A	G	8: 107,613,109 (GRCm39)		probably null	Het
Clec4a4	G	T	6: 122,989,671 (GRCm39)	W104L	probably benign	Het
Clock	A	T	5: 76,377,208 (GRCm39)	I696K	possibly damaging	Het
Crtc2	T	A	3: 90,169,940 (GRCm39)	Y445*	probably null	Het
Dapk1	A	T	13: 60,844,112 (GRCm39)	I44F	probably damaging	Het
Dcbld2	T	A	16: 58,270,204 (GRCm39)		probably null	Het
Derl2	T	C	11: 70,905,373 (GRCm39)		probably null	Het
Dnah7c	A	G	1: 46,505,065 (GRCm39)	T154A	probably benign	Het
Dnmt3b	T	A	2: 153,516,762 (GRCm39)		probably null	Het
Dusp3	A	T	11: 101,872,554 (GRCm39)	S106T	probably benign	Het
Eftud2	A	G	11: 102,730,079 (GRCm39)	V897A	probably damaging	Het
Eif3l	T	A	15: 78,959,966 (GRCm39)		probably null	Het
Fbxo33	A	C	12: 59,265,878 (GRCm39)	F130V	probably damaging	Het
Ffar3	T	A	7: 30,554,529 (GRCm39)	N264Y	probably damaging	Het
Fig4	T	C	10: 41,148,978 (GRCm39)	D158G	probably damaging	Het
Fyco1	A	G	9: 123,648,218 (GRCm39)	F1239L	probably damaging	Het
Gabra2	A	G	5: 71,249,442 (GRCm39)		probably benign	Het
Gabra6	C	A	11: 42,205,844 (GRCm39)	R336S	probably benign	Het
Hkdc1	T	C	10: 62,234,452 (GRCm39)	D581G	probably damaging	Het
Ift70a2	C	T	2: 75,808,375 (GRCm39)	A46T	probably damaging	Het
Iqgap1	A	G	7: 80,375,321 (GRCm39)		probably benign	Het
Larp4b	T	C	13: 9,216,345 (GRCm39)		probably benign	Het
Lcp1	A	T	14: 75,436,827 (GRCm39)	M58L	probably benign	Het
Lrrc8a	T	C	2: 30,146,362 (GRCm39)	V392A	possibly damaging	Het
Mavs	A	T	2: 131,088,684 (GRCm39)	Y496F	probably damaging	Het
Mpi	A	T	9: 57,457,897 (GRCm39)	S102T	probably damaging	Het
Mroh9	G	A	1: 162,893,693 (GRCm39)	R161W	possibly damaging	Het
Myo1h	A	T	5: 114,458,747 (GRCm39)	S161C	probably damaging	Het
Napg	T	G	18: 63,127,409 (GRCm39)	H204Q	probably benign	Het
Nelfcd	C	A	2: 174,264,807 (GRCm39)	A182D	probably benign	Het
Ntsr2	G	T	12: 16,704,031 (GRCm39)	K91N	probably damaging	Het
Obscn	A	G	11: 58,972,645 (GRCm39)	S2134P	probably damaging	Het
Ogfod2	G	A	5: 124,251,539 (GRCm39)		probably benign	Het
Or13a19	G	A	7: 139,903,238 (GRCm39)	V209I	probably benign	Het
Or1e26	G	T	11: 73,479,970 (GRCm39)	T198K	probably benign	Het
Pcdha8	T	C	18: 37,127,123 (GRCm39)	V535A	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pik3r1	T	C	13: 101,822,866 (GRCm39)		probably null	Het
Pimreg	C	A	11: 71,933,939 (GRCm39)	Q22K	probably benign	Het
Pld5	A	G	1: 175,872,462 (GRCm39)	I225T	probably damaging	Het
Plxnc1	T	C	10: 94,667,195 (GRCm39)		probably benign	Het
Ppip5k2	A	T	1: 97,677,377 (GRCm39)	C306*	probably null	Het
Ptprc	A	G	1: 138,020,668 (GRCm39)	Y588H	probably damaging	Het
Rac2	T	G	15: 78,450,145 (GRCm39)	D65A	possibly damaging	Het
Rgl3	A	G	9: 21,888,676 (GRCm39)		probably null	Het
Serpinb1a	T	C	13: 33,027,199 (GRCm39)	K248E	probably benign	Het
Serpinb9e	A	C	13: 33,443,757 (GRCm39)	E259A	probably benign	Het
Slc12a4	A	T	8: 106,678,532 (GRCm39)	V266E	probably damaging	Het
Slc8b1	A	G	5: 120,662,260 (GRCm39)		probably benign	Het
Spink6	T	C	18: 44,204,605 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,012,256 (GRCm39)	R354H	probably damaging	Het
Stard9	G	T	2: 120,527,966 (GRCm39)	V1408F	probably benign	Het
Sumf2	A	T	5: 129,878,846 (GRCm39)	T61S	probably benign	Het
Sypl2	T	C	3: 108,124,072 (GRCm39)	T157A	probably damaging	Het
Tgfbr3	A	T	5: 107,287,749 (GRCm39)	D483E	probably damaging	Het
Tnrc6a	A	G	7: 122,769,563 (GRCm39)	N451S	possibly damaging	Het
Tradd	T	C	8: 105,986,403 (GRCm39)	E123G	probably damaging	Het
Trim36	T	C	18: 46,329,318 (GRCm39)	T41A	probably damaging	Het
Ttll7	C	T	3: 146,645,746 (GRCm39)	P535S	probably damaging	Het
Ubr4	C	T	4: 139,164,509 (GRCm39)		probably benign	Het
Uqcc5	G	T	14: 30,810,953 (GRCm39)		probably benign	Het
Vmn1r195	A	G	13: 22,463,181 (GRCm39)	Y217C	probably damaging	Het
Vmn2r63	A	C	7: 42,577,459 (GRCm39)	F360V	probably damaging	Het
Vmn2r78	G	A	7: 86,603,588 (GRCm39)	V589M	possibly damaging	Het
Vmn2r-ps158	A	G	7: 42,696,833 (GRCm39)	Y630C	probably damaging	Het
Vrk2	A	G	11: 26,433,331 (GRCm39)		probably benign	Het

Other mutations in Ssb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00895:Ssb	APN	2	69,696,606 (GRCm39)	missense	probably benign	0.06
IGL00940:Ssb	APN	2	69,701,179 (GRCm39)	critical splice donor site	probably null
IGL00941:Ssb	APN	2	69,701,179 (GRCm39)	critical splice donor site	probably null
IGL01834:Ssb	APN	2	69,701,147 (GRCm39)	missense	possibly damaging	0.89
R0713:Ssb	UTSW	2	69,697,703 (GRCm39)	missense	probably benign	0.06
R0716:Ssb	UTSW	2	69,697,703 (GRCm39)	missense	probably benign	0.06
R1139:Ssb	UTSW	2	69,696,920 (GRCm39)	missense	possibly damaging	0.66
R1928:Ssb	UTSW	2	69,697,901 (GRCm39)	splice site	probably null
R2037:Ssb	UTSW	2	69,699,163 (GRCm39)	missense	probably benign	0.16
R3968:Ssb	UTSW	2	69,697,793 (GRCm39)	splice site	probably benign
R4674:Ssb	UTSW	2	69,699,194 (GRCm39)	missense	probably benign	0.01
R5039:Ssb	UTSW	2	69,696,581 (GRCm39)	missense	possibly damaging	0.79
R5551:Ssb	UTSW	2	69,701,474 (GRCm39)	missense	probably damaging	0.99
R6102:Ssb	UTSW	2	69,701,552 (GRCm39)	makesense	probably null
R7126:Ssb	UTSW	2	69,696,845 (GRCm39)	missense	possibly damaging	0.70
R7448:Ssb	UTSW	2	69,693,624 (GRCm39)	missense	probably benign
R7590:Ssb	UTSW	2	69,697,634 (GRCm39)	missense	probably benign	0.08
R9499:Ssb	UTSW	2	69,696,982 (GRCm39)	missense	probably benign
R9551:Ssb	UTSW	2	69,696,982 (GRCm39)	missense	probably benign
R9652:Ssb	UTSW	2	69,700,784 (GRCm39)	missense	probably damaging	1.00
R9753:Ssb	UTSW	2	69,697,865 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTCCGTGTCAGATGGGTAATATGC -3'
(R):5'- GTAAAGACTTACCACGACGACGATCAT -3'

Sequencing Primer
(F):5'- TGGGTAATATGCTGACGTTGAAAC -3'
(R):5'- CGACGATCATCATCATCAAATCTTG -3'

Posted On

2013-09-30