Mutagenetix > Incidental Mutation

Incidental Mutation 'R6102:Ssb'

485287

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

044252-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6102 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69861562-69871846 bp(+) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 69871208 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 416 (*416Q)

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 null
Transcript: ENSMUST00000090852
AA Change: *416Q

SMART Domains

Protein: ENSMUSP00000088365
Gene: ENSMUSG00000068882
AA Change: *416Q

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

probably null
Transcript: ENSMUST00000132603
AA Change: *230Q

SMART Domains

Protein: ENSMUSP00000115666
Gene: ENSMUSG00000068882
AA Change: *230Q

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

noncoding transcript
Transcript: ENSMUST00000149283

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156057

Predicted Effect

probably null
Transcript: ENSMUST00000166411
AA Change: *416Q

SMART Domains

Protein: ENSMUSP00000130313
Gene: ENSMUSG00000068882
AA Change: *416Q

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

Meta Mutation Damage Score

0.9589

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

97% (65/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12e	A	G	11: 70,320,023 (GRCm38)	I290T	possibly damaging	Het
Apeh	T	A	9: 108,086,439 (GRCm38)	D559V	probably damaging	Het
Aspm	T	A	1: 139,477,459 (GRCm38)	Y1361*	probably null	Het
Atad5	G	T	11: 80,111,572 (GRCm38)		probably null	Het
Ccr4	C	T	9: 114,496,493 (GRCm38)		probably null	Het
Clasrp	G	A	7: 19,586,468 (GRCm38)		probably benign	Het
Cldn23	A	G	8: 35,825,551 (GRCm38)	M261T	probably benign	Het
Cmya5	T	C	13: 93,094,231 (GRCm38)	M1450V	probably benign	Het
Cyp4v3	T	A	8: 45,320,160 (GRCm38)	E202V	probably damaging	Het
Dnah7a	A	T	1: 53,559,140 (GRCm38)	V1412E	probably benign	Het
Dnah9	A	G	11: 65,990,516 (GRCm38)	S2578P	probably damaging	Het
Dsc2	T	A	18: 20,047,108 (GRCm38)	Y196F	probably benign	Het
Exoc1	T	C	5: 76,537,779 (GRCm38)	S113P	probably damaging	Het
Fbxo6	A	T	4: 148,149,522 (GRCm38)	I39N	probably damaging	Het
Frs3	C	T	17: 47,702,671 (GRCm38)	H173Y	probably damaging	Het
Ginm1	G	T	10: 7,768,496 (GRCm38)	T323K	probably benign	Het
Golgb1	T	C	16: 36,912,865 (GRCm38)	S825P	probably damaging	Het
Hs3st3b1	A	T	11: 63,921,855 (GRCm38)	C11*	probably null	Het
Ighv3-3	G	C	12: 114,196,460 (GRCm38)	A110G	possibly damaging	Het
Igkv6-20	G	A	6: 70,335,869 (GRCm38)	H107Y	probably benign	Het
Kcnj16	A	G	11: 111,025,577 (GRCm38)	E355G	probably benign	Het
Lig4	C	T	8: 9,972,872 (GRCm38)	G303S	probably damaging	Het
Map1b	A	C	13: 99,425,873 (GRCm38)	V2443G	unknown	Het
Map3k6	T	C	4: 133,247,131 (GRCm38)		probably null	Het
Mmp13	A	G	9: 7,276,688 (GRCm38)	Q261R	probably benign	Het
Mphosph9	T	A	5: 124,297,709 (GRCm38)	I554F	possibly damaging	Het
Mrgpra3	A	T	7: 47,590,149 (GRCm38)	F10I	possibly damaging	Het
Ms4a18	G	A	19: 11,013,523 (GRCm38)	T69I	probably benign	Het
Mtmr3	T	C	11: 4,487,673 (GRCm38)	N927S	probably damaging	Het
Necab1	T	A	4: 14,989,211 (GRCm38)	Q188L	probably benign	Het
Nfatc2	A	G	2: 168,519,507 (GRCm38)		probably benign	Het
Olfr152	T	C	2: 87,782,848 (GRCm38)	F103L	probably damaging	Het
Olfr495	T	C	7: 108,395,284 (GRCm38)	S55P	probably damaging	Het
Olfr854	T	C	9: 19,567,022 (GRCm38)	M121V	possibly damaging	Het
Paip2b	A	C	6: 83,808,846 (GRCm38)	V134G	possibly damaging	Het
Pax3	T	C	1: 78,132,347 (GRCm38)	T225A	probably damaging	Het
Pbx1	C	A	1: 168,183,565 (GRCm38)	A298S	probably benign	Het
Pcdhac2	A	T	18: 37,146,282 (GRCm38)	K772*	probably null	Het
Pcsk4	A	T	10: 80,325,817 (GRCm38)	Y163*	probably null	Het
Plcd3	A	G	11: 103,080,644 (GRCm38)	V58A	probably damaging	Het
Plek2	T	A	12: 78,900,093 (GRCm38)	T57S	possibly damaging	Het
Plscr2	C	T	9: 92,287,668 (GRCm38)	T57I	probably benign	Het
Ppp2r5b	A	G	19: 6,234,738 (GRCm38)	S32P	probably benign	Het
Ppp3r2	C	T	4: 49,682,022 (GRCm38)		probably benign	Het
Psme4	T	A	11: 30,865,567 (GRCm38)	L1693H	probably damaging	Het
Rrbp1	T	A	2: 143,988,393 (GRCm38)	Q618L	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904 (GRCm38)		probably benign	Het
Rsrc1	C	T	3: 66,994,649 (GRCm38)	P44L	unknown	Het
Serpina3b	A	T	12: 104,134,169 (GRCm38)	T337S	probably benign	Het
Slc18a2	T	C	19: 59,293,878 (GRCm38)	Y506H	probably benign	Het
Slc9a9	A	G	9: 94,936,429 (GRCm38)	Y292C	probably benign	Het
Spta1	T	C	1: 174,224,520 (GRCm38)	V1840A	probably benign	Het
Strada	A	G	11: 106,168,436 (GRCm38)	V209A	probably benign	Het
Tbc1d31	A	T	15: 57,936,093 (GRCm38)	D225V	probably damaging	Het
Tgm4	T	C	9: 123,056,535 (GRCm38)	F381L	probably benign	Het
Tmem120b	T	A	5: 123,115,144 (GRCm38)	Y203N	probably damaging	Het
Tmem176b	A	G	6: 48,835,934 (GRCm38)	V109A	probably benign	Het
Tnfrsf11a	C	A	1: 105,819,946 (GRCm38)	L201M	possibly damaging	Het
Ttn	C	A	2: 76,974,350 (GRCm38)		probably null	Het
Tubb2a	T	C	13: 34,075,343 (GRCm38)	I155V	probably benign	Het
Vmn1r5	A	G	6: 56,986,114 (GRCm38)	D258G	probably damaging	Het
Vmn2r121	T	C	X: 124,133,575 (GRCm38)	T120A	probably benign	Het
Vmn2r19	A	T	6: 123,329,948 (GRCm38)	I472F	probably damaging	Het
Vwa3a	A	G	7: 120,776,138 (GRCm38)		probably null	Het
Zfp273	A	G	13: 67,822,347 (GRCm38)	Y5C	probably damaging	Het
Zfp647	G	A	15: 76,912,085 (GRCm38)	P125L	probably damaging	Het
Zfp825	A	G	13: 74,480,653 (GRCm38)	L248P	probably damaging	Het

Other mutations in Ssb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00895:Ssb	APN	2	69,866,262 (GRCm38)	missense	probably benign	0.06
IGL00940:Ssb	APN	2	69,870,835 (GRCm38)	critical splice donor site	probably null
IGL00941:Ssb	APN	2	69,870,835 (GRCm38)	critical splice donor site	probably null
IGL01834:Ssb	APN	2	69,870,803 (GRCm38)	missense	possibly damaging	0.89
R0713:Ssb	UTSW	2	69,867,359 (GRCm38)	missense	probably benign	0.06
R0716:Ssb	UTSW	2	69,867,359 (GRCm38)	missense	probably benign	0.06
R0751:Ssb	UTSW	2	69,870,565 (GRCm38)	missense	probably benign
R1139:Ssb	UTSW	2	69,866,576 (GRCm38)	missense	possibly damaging	0.66
R1928:Ssb	UTSW	2	69,867,557 (GRCm38)	splice site	probably null
R2037:Ssb	UTSW	2	69,868,819 (GRCm38)	missense	probably benign	0.16
R3968:Ssb	UTSW	2	69,867,449 (GRCm38)	splice site	probably benign
R4674:Ssb	UTSW	2	69,868,850 (GRCm38)	missense	probably benign	0.01
R5039:Ssb	UTSW	2	69,866,237 (GRCm38)	missense	possibly damaging	0.79
R5551:Ssb	UTSW	2	69,871,130 (GRCm38)	missense	probably damaging	0.99
R7126:Ssb	UTSW	2	69,866,501 (GRCm38)	missense	possibly damaging	0.70
R7448:Ssb	UTSW	2	69,863,280 (GRCm38)	missense	probably benign
R7590:Ssb	UTSW	2	69,867,290 (GRCm38)	missense	probably benign	0.08
R9499:Ssb	UTSW	2	69,866,638 (GRCm38)	missense	probably benign
R9551:Ssb	UTSW	2	69,866,638 (GRCm38)	missense	probably benign
R9652:Ssb	UTSW	2	69,870,440 (GRCm38)	missense	probably damaging	1.00
R9753:Ssb	UTSW	2	69,867,521 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTCTCCTTGAAGGGAAGATGC -3'
(R):5'- AGAAGGGCTTATACTCGCAAG -3'

Sequencing Primer
(F):5'- GGAAGCTATTACCAATACTTG -3'
(R):5'- CGCAAGAGTCAATATTTTAGTTGAAG -3'

Posted On

2017-08-16