Mutagenetix > Incidental Mutation

Incidental Mutation 'R0166:Spib'

24169

Institutional Source

Beutler Lab

Gene Symbol

Spib

Ensembl Gene

ENSMUSG00000008193

Gene Name

Spi-B transcription factor (Spi-1/PU.1 related)

Synonyms

Spi-B

MMRRC Submission

038442-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.746) question?

Stock #

R0166 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

44175417-44181495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 44179324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 28 (D28E)

Ref Sequence

ENSEMBL: ENSMUSP00000145968 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035323] [ENSMUST00000049343] [ENSMUST00000098483] [ENSMUST00000205506] [ENSMUST00000151793]

AlphaFold

O35906

Predicted Effect

probably damaging
Transcript: ENSMUST00000035323
AA Change: D27E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035539
Gene: ENSMUSG00000008193
AA Change: D27E

Domain	Start	End	E-Value	Type
low complexity region	50	58	N/A	INTRINSIC
low complexity region	159	171	N/A	INTRINSIC
ETS	173	261	2.05e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000049343

SMART Domains

Protein: ENSMUSP00000039776
Gene: ENSMUSG00000038644

Domain	Start	End	E-Value	Type
coiled coil region	34	58	N/A	INTRINSIC
Blast:POLBc	65	108	1e-7	BLAST
low complexity region	212	225	N/A	INTRINSIC
Blast:POLBc	227	279	1e-19	BLAST
POLBc	306	763	2.53e-161	SMART
Blast:POLBc	790	837	1e-18	BLAST
Pfam:zf-C4pol	1010	1080	5.1e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000098483
AA Change: D45E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000096084
Gene: ENSMUSG00000008193
AA Change: D45E

Domain	Start	End	E-Value	Type
low complexity region	68	76	N/A	INTRINSIC
low complexity region	177	189	N/A	INTRINSIC
ETS	191	279	2.05e-41	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136225

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138746

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147503

Predicted Effect

probably damaging
Transcript: ENSMUST00000205506
AA Change: D28E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154783

Predicted Effect

probably benign
Transcript: ENSMUST00000151793

SMART Domains

Protein: ENSMUSP00000117157
Gene: ENSMUSG00000038644

Domain	Start	End	E-Value	Type
coiled coil region	34	58	N/A	INTRINSIC
Blast:POLBc	66	108	1e-7	BLAST
low complexity region	212	225	N/A	INTRINSIC
Blast:POLBc	227	279	1e-19	BLAST
POLBc	306	763	7.8e-164	SMART
Blast:POLBc	790	837	1e-18	BLAST
low complexity region	914	938	N/A	INTRINSIC
low complexity region	959	980	N/A	INTRINSIC

Meta Mutation Damage Score

0.1424

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 91.4%

Validation Efficiency

91% (49/54)

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 a transcriptional activator that binds to the PU-box (5'-GAGGAA-3') and acts as a lymphoid-specific enhancer. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous null mice exhibit severe defects in B cell function and selective T cell-dependent humoral immune responses. Mutant B cells display a defective germinal center reaction upon immunization with DNP-KLH and proliferate poorly in vitro in responseto IgM cross-linking. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	C	5: 8,903,468 (GRCm39)	F1040L	probably damaging	Het
Adamts7	A	G	9: 90,075,745 (GRCm39)	N1201S	probably benign	Het
Ahnak	C	T	19: 8,983,089 (GRCm39)	P1458S	probably damaging	Het
Akap6	T	C	12: 53,187,707 (GRCm39)	V1707A	probably benign	Het
Akr1c21	T	A	13: 4,631,263 (GRCm39)	V266E	probably damaging	Het
Arap2	A	C	5: 62,833,361 (GRCm39)	C894G	probably damaging	Het
Atp2a2	T	C	5: 122,604,901 (GRCm39)	D426G	possibly damaging	Het
Azi2	A	T	9: 117,884,909 (GRCm39)	Q132L	possibly damaging	Het
Carmil1	C	T	13: 24,283,032 (GRCm39)	D91N	probably damaging	Het
Cnot7	A	T	8: 40,960,494 (GRCm39)		probably null	Het
Cntnap5b	A	G	1: 100,202,086 (GRCm39)	E311G	probably benign	Het
Csmd1	A	G	8: 16,283,036 (GRCm39)	V640A	probably benign	Het
Cst7	T	C	2: 150,417,647 (GRCm39)	S31P	probably benign	Het
Cyp7b1	T	A	3: 18,151,530 (GRCm39)	I228L	probably benign	Het
Ddx28	G	A	8: 106,736,921 (GRCm39)	T379I	probably benign	Het
Drd1	T	A	13: 54,207,600 (GRCm39)	I205F	probably damaging	Het
Flnb	T	A	14: 7,896,115 (GRCm38)	V837D	probably damaging	Het
Fsd1l	A	G	4: 53,647,664 (GRCm39)		probably null	Het
Fubp1	T	A	3: 151,925,841 (GRCm39)	Y264*	probably null	Het
Gbp5	T	A	3: 142,212,680 (GRCm39)		probably null	Het
Gm7094	A	G	1: 21,342,958 (GRCm39)		noncoding transcript	Het
Gpr55	A	G	1: 85,868,858 (GRCm39)	V241A	probably benign	Het
Impa1	C	T	3: 10,394,020 (GRCm39)	A16T	probably damaging	Het
Llgl2	T	C	11: 115,735,680 (GRCm39)	L92P	probably damaging	Het
Ltbp2	T	A	12: 84,833,132 (GRCm39)	Q1472L	probably benign	Het
Lyplal1	A	T	1: 185,820,943 (GRCm39)	M168K	probably benign	Het
Macc1	A	T	12: 119,410,815 (GRCm39)	R528*	probably null	Het
Mdm1	T	A	10: 118,002,585 (GRCm39)	D635E	probably damaging	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mrpl23	C	T	7: 142,088,851 (GRCm39)	R69W	probably damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nr0b2	A	G	4: 133,281,049 (GRCm39)	Q105R	probably damaging	Het
Or8b53	T	A	9: 38,667,484 (GRCm39)	S167T	probably benign	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Pcdhb14	A	T	18: 37,581,542 (GRCm39)		probably null	Het
Plxna1	A	G	6: 89,310,001 (GRCm39)	W1055R	probably damaging	Het
Pramel22	T	A	4: 143,381,081 (GRCm39)	H314L	probably benign	Het
Prdm1	C	T	10: 44,316,087 (GRCm39)	R716Q	probably damaging	Het
Proser1	C	A	3: 53,388,038 (GRCm39)	Q909K	possibly damaging	Het
Pus10	T	A	11: 23,617,358 (GRCm39)	C24S	probably damaging	Het
Rpl27	T	A	11: 101,336,146 (GRCm39)	F69I	possibly damaging	Het
Sctr	A	T	1: 119,983,124 (GRCm39)	I325F	probably damaging	Het
Slc49a4	G	A	16: 35,539,684 (GRCm39)	T379I	possibly damaging	Het
Slc5a3	G	A	16: 91,874,581 (GRCm39)	V213I	possibly damaging	Het
Spic	T	C	10: 88,511,579 (GRCm39)	S226G	possibly damaging	Het
Tet1	T	A	10: 62,676,058 (GRCm39)	T673S	probably benign	Het
Tph1	A	G	7: 46,297,020 (GRCm39)	F392L	probably damaging	Het
Ttc28	T	C	5: 111,373,500 (GRCm39)	S979P	probably benign	Het
Unc79	T	C	12: 103,122,812 (GRCm39)	L2110P	probably damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Zfp467	T	C	6: 48,415,615 (GRCm39)	T346A	probably benign	Het

Other mutations in Spib

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1991:Spib	UTSW	7	44,178,281 (GRCm39)	missense	probably benign	0.01
R1992:Spib	UTSW	7	44,178,281 (GRCm39)	missense	probably benign	0.01
R2253:Spib	UTSW	7	44,179,392 (GRCm39)	missense	probably benign	0.02
R2267:Spib	UTSW	7	44,178,348 (GRCm39)	missense	probably benign
R4732:Spib	UTSW	7	44,178,309 (GRCm39)	missense	probably damaging	1.00
R4733:Spib	UTSW	7	44,178,309 (GRCm39)	missense	probably damaging	1.00
R5325:Spib	UTSW	7	44,177,505 (GRCm39)	missense	probably damaging	1.00
R8038:Spib	UTSW	7	44,179,310 (GRCm39)	missense	probably benign
R9486:Spib	UTSW	7	44,178,815 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- AAGCTGTGCAAATCTCTGACCCC -3'
(R):5'- GCATACTGGACACTACCAGGTTTCC -3'

Sequencing Primer
(F):5'- TGACCCCAGAATTTGCATGG -3'
(R):5'- TCAGAGCCTTAGCAGATGC -3'

Posted On

2013-04-16