Mutagenetix > Incidental Mutation

Incidental Mutation 'R9652:Ssb'

735351

Institutional Source

Beutler Lab

Gene Symbol

Ssb

Ensembl Gene

ENSMUSG00000068882

Gene Name

Sjogren syndrome antigen B

Synonyms

SS-B, autoantigen La, La protein

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9652 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69861562-69871846 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 69870440 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 288 (A288E)

Ref Sequence

ENSEMBL: ENSMUSP00000088365 (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 damaging
Transcript: ENSMUST00000090852
AA Change: A288E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088365
Gene: ENSMUSG00000068882
AA Change: A288E

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

SMART Domains

Protein: ENSMUSP00000115666
Gene: ENSMUSG00000068882
AA Change: A103E

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

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 damaging
Transcript: ENSMUST00000166411
AA Change: A288E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130313
Gene: ENSMUSG00000068882
AA Change: A288E

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.6%
20x: 99.1%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	G	A	18: 61,743,361	T395M	probably damaging	Het
Akap8l	T	C	17: 32,338,809	N35D	probably damaging	Het
Atr	T	A	9: 95,874,834	L922Q	probably damaging	Het
B3gnt9	G	T	8: 105,254,497	F86L	probably damaging	Het
Bmp1	T	C	14: 70,477,920	D925G	probably damaging	Het
C77080	T	C	4: 129,224,169	E279G	possibly damaging	Het
Camkmt	A	T	17: 85,452,285	R284S	probably benign	Het
Cavin3	G	T	7: 105,482,097	H21Q	probably damaging	Het
Ccp110	A	G	7: 118,735,330	H180R		Het
Cdh23	A	T	10: 60,331,356	V1837E	probably damaging	Het
Ces3b	G	T	8: 105,085,625	A169S	probably damaging	Het
Chpt1	T	C	10: 88,489,637	N122S	probably benign	Het
Cramp1l	C	A	17: 24,982,809	K566N	probably damaging	Het
Ctbp2	C	G	7: 133,014,204	R334P	probably damaging	Het
Cwh43	T	C	5: 73,414,997	S193P	probably benign	Het
Dcstamp	A	T	15: 39,760,396	D469V	probably benign	Het
Dst	T	A	1: 34,180,377	I1966N	probably benign	Het
Eif3i	G	T	4: 129,595,301	F121L	probably benign	Het
Erbb2	T	C	11: 98,435,986	S1074P	probably damaging	Het
Fam186b	G	A	15: 99,279,735	A570V	probably damaging	Het
Fbn2	A	G	18: 58,013,650		probably null	Het
Foxo3	C	T	10: 42,197,025	V499M	probably damaging	Het
Gm2a	T	C	11: 55,108,938	V95A	probably benign	Het
Gp5	A	C	16: 30,309,575	F94V	probably damaging	Het
Gramd4	G	A	15: 86,131,959	E504K	probably damaging	Het
Gusb	A	G	5: 129,997,811	S450P	probably damaging	Het
Htr5a	A	G	5: 27,842,840	N131S	possibly damaging	Het
Itga2	G	A	13: 114,884,455	P120L	probably benign	Het
Itpkb	G	T	1: 180,332,491	E61*	probably null	Het
Katnbl1	T	A	2: 112,409,152	V232D	probably damaging	Het
Kifap3	T	C	1: 163,862,088	L547P	probably damaging	Het
Krt6a	C	T	15: 101,690,685	V482M	probably benign	Het
Lrfn5	T	A	12: 61,843,632	V569D	probably damaging	Het
Luzp2	A	G	7: 55,052,832	T48A	probably damaging	Het
Mical2	G	T	7: 112,346,789	R986L	probably damaging	Het
Mroh8	G	A	2: 157,253,050	Q339*	probably null	Het
Msln	A	T	17: 25,749,068	V541E	probably damaging	Het
Muc16	T	A	9: 18,586,882	M6590L	probably benign	Het
Nisch	A	T	14: 31,171,671	V1315E	probably damaging	Het
Nubp2	G	A	17: 24,884,408	T165I	probably damaging	Het
Olfr1089	A	T	2: 86,733,292	F107I	probably damaging	Het
Olfr13	A	G	6: 43,174,057	M24V	probably benign	Het
Olfr57	T	C	10: 79,035,396	I200T	probably benign	Het
Olfr682-ps1	A	T	7: 105,126,778	N164K	probably benign	Het
Olfr820	T	C	10: 130,017,940	I193T	possibly damaging	Het
Oog3	T	G	4: 144,157,919	R482S	probably benign	Het
P3h4	A	T	11: 100,413,673	C247*	probably null	Het
Palm2	G	A	4: 57,710,125	A357T	possibly damaging	Het
Plch2	T	A	4: 154,998,485	M569L	probably benign	Het
Plcl1	A	G	1: 55,696,291	T264A	probably benign	Het
Rad51ap1	G	T	6: 126,927,563	N178K	probably benign	Het
Rasa4	T	C	5: 136,101,640	L340P	probably damaging	Het
Rassf10	A	G	7: 112,955,577	T462A	probably benign	Het
Rlf	G	C	4: 121,150,668	L482V	probably damaging	Het
Robo1	T	G	16: 73,024,442	S1357A	possibly damaging	Het
Rp1l1	T	C	14: 64,032,265	S1767P	probably damaging	Het
Rpl3l	T	A	17: 24,728,354	L14Q	probably damaging	Het
Ryr3	T	A	2: 112,804,702	T2024S	possibly damaging	Het
Sbf2	T	C	7: 110,441,495	Q375R	possibly damaging	Het
Sema6a	T	C	18: 47,249,185	Q765R	probably damaging	Het
Senp6	T	A	9: 80,113,946	Y303N	probably damaging	Het
Sertad4	C	T	1: 192,846,528	D327N	probably damaging	Het
Slc22a15	T	A	3: 101,883,532	Y219F	possibly damaging	Het
Slco1b2	T	G	6: 141,648,632		probably null	Het
Snrnp200	G	T	2: 127,226,039	V819L	probably damaging	Het
Syne2	A	G	12: 76,054,846	H638R	probably benign	Het
Tm7sf3	A	G	6: 146,626,200	S43P	probably benign	Het
Tmem200c	A	G	17: 68,842,186	H588R	probably benign	Het
Tnpo3	G	A	6: 29,560,174	R657*	probably null	Het
Traf6	T	C	2: 101,688,582	C139R	probably damaging	Het
Txnrd1	C	A	10: 82,884,556	N424K	possibly damaging	Het
Ubqln3	T	C	7: 104,142,755	I43V	probably damaging	Het
Usp32	A	G	11: 85,030,491	V699A	probably damaging	Het
Vmn2r103	T	C	17: 19,793,765	V273A	probably benign	Het
Vmn2r8	A	G	5: 108,803,241	S113P	probably benign	Het
Wdr7	T	A	18: 63,727,755	I161N	probably damaging	Het
Zfp474	A	T	18: 52,638,943	I223F	probably damaging	Het
Zfp583	A	G	7: 6,317,329	L228P	probably damaging	Het
Zfyve27	A	G	19: 42,177,417	T76A	possibly damaging	Het

Other mutations in Ssb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00895:Ssb	APN	2	69866262	missense	probably benign	0.06
IGL00940:Ssb	APN	2	69870835	critical splice donor site	probably null
IGL00941:Ssb	APN	2	69870835	critical splice donor site	probably null
IGL01834:Ssb	APN	2	69870803	missense	possibly damaging	0.89
R0713:Ssb	UTSW	2	69867359	missense	probably benign	0.06
R0716:Ssb	UTSW	2	69867359	missense	probably benign	0.06
R0751:Ssb	UTSW	2	69870565	missense	probably benign
R1139:Ssb	UTSW	2	69866576	missense	possibly damaging	0.66
R1928:Ssb	UTSW	2	69867557	splice site	probably null
R2037:Ssb	UTSW	2	69868819	missense	probably benign	0.16
R3968:Ssb	UTSW	2	69867449	splice site	probably benign
R4674:Ssb	UTSW	2	69868850	missense	probably benign	0.01
R5039:Ssb	UTSW	2	69866237	missense	possibly damaging	0.79
R5551:Ssb	UTSW	2	69871130	missense	probably damaging	0.99
R6102:Ssb	UTSW	2	69871208	makesense	probably null
R7126:Ssb	UTSW	2	69866501	missense	possibly damaging	0.70
R7448:Ssb	UTSW	2	69863280	missense	probably benign
R7590:Ssb	UTSW	2	69867290	missense	probably benign	0.08
R9499:Ssb	UTSW	2	69866638	missense	probably benign
R9551:Ssb	UTSW	2	69866638	missense	probably benign
R9753:Ssb	UTSW	2	69867521	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTGGGAGGAACAGGTCATG -3'
(R):5'- TTAAATCTGCGGGCTGCTG -3'

Sequencing Primer
(F):5'- TTGGGAGGAACAGGTCATGAAAATTG -3'
(R):5'- GGCTGCTGTAAAAACATGGCTTC -3'

Posted On

2022-11-14