Mutagenetix > Incidental Mutation

Incidental Mutation 'R1991:Spib'

225133

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

040002-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.746) question?

Stock #

R1991 (G1)

Quality Score

145

Status

Validated

Chromosome

Chromosomal Location

44175417-44181495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44178281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 180 (E180G)

Ref Sequence

ENSEMBL: ENSMUSP00000096084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035323] [ENSMUST00000049343] [ENSMUST00000098483] [ENSMUST00000151793] [ENSMUST00000205506] [ENSMUST00000165208]

AlphaFold

O35906

Predicted Effect

probably benign
Transcript: ENSMUST00000035323
AA Change: E162G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000035539
Gene: ENSMUSG00000008193
AA Change: E162G

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 benign
Transcript: ENSMUST00000098483
AA Change: E180G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000096084
Gene: ENSMUSG00000008193
AA Change: E180G

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: ENSMUST00000147503

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

Predicted Effect

probably benign
Transcript: ENSMUST00000205506
AA Change: E163G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154783

Predicted Effect

probably benign
Transcript: ENSMUST00000165208

SMART Domains

Protein: ENSMUSP00000130127
Gene: ENSMUSG00000038670

Domain	Start	End	E-Value	Type
low complexity region	2	37	N/A	INTRINSIC
IG	54	150	6.26e-5	SMART
PDB:2LHU\|A	160	236	7e-9	PDB
low complexity region	237	252	N/A	INTRINSIC
IG	258	337	5.21e-2	SMART
IG	347	430	1.2e-1	SMART
IG	440	526	2.72e-5	SMART
IG	546	631	1.68e-5	SMART
FN3	634	717	3.29e-11	SMART
FN3	732	815	1.23e-10	SMART
IG	842	925	6.07e-3	SMART
FN3	928	1010	2.08e-8	SMART
IGc2	1055	1122	6.91e-7	SMART

Meta Mutation Damage Score

0.1150

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (124/124)

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: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,771,419 (GRCm39)	R203*	probably null	Het
Abcc2	A	T	19: 43,795,581 (GRCm39)	I446F	probably damaging	Het
Afap1l2	A	T	19: 56,990,699 (GRCm39)	I18N	possibly damaging	Het
Aida	A	T	1: 183,094,627 (GRCm39)	E107D	probably benign	Het
Amer2	A	G	14: 60,617,269 (GRCm39)	Y362C	probably damaging	Het
Amigo1	T	C	3: 108,094,644 (GRCm39)	S48P	probably benign	Het
Ano5	A	G	7: 51,187,561 (GRCm39)	K50R	possibly damaging	Het
Anxa2	A	T	9: 69,391,098 (GRCm39)	D95V	probably damaging	Het
Arhgap22	A	G	14: 33,088,916 (GRCm39)	N466D	probably damaging	Het
Armc3	T	C	2: 19,297,953 (GRCm39)	Y575H	probably damaging	Het
Ascc2	A	G	11: 4,629,257 (GRCm39)	E523G	probably benign	Het
B3galt5	A	T	16: 96,117,225 (GRCm39)	K286M	probably damaging	Het
Bag3	C	T	7: 128,147,407 (GRCm39)	H341Y	probably benign	Het
Blm	G	T	7: 80,155,697 (GRCm39)		probably null	Het
Cacna1b	G	A	2: 24,622,318 (GRCm39)	P222L	probably damaging	Het
Cap2	T	A	13: 46,791,357 (GRCm39)	Y175N	possibly damaging	Het
Cd81	G	T	7: 142,620,938 (GRCm39)	G206*	probably null	Het
Cep290	T	A	10: 100,367,046 (GRCm39)	S1132R	possibly damaging	Het
Cluh	C	A	11: 74,550,355 (GRCm39)	C222*	probably null	Het
Col14a1	A	T	15: 55,313,336 (GRCm39)	D1320V	unknown	Het
Col18a1	T	C	10: 76,916,988 (GRCm39)	I114V	unknown	Het
Cped1	A	G	6: 22,233,926 (GRCm39)	T847A	probably damaging	Het
Cpne7	A	G	8: 123,854,176 (GRCm39)	K288E	possibly damaging	Het
Cr2	G	A	1: 194,836,458 (GRCm39)	P1278S	possibly damaging	Het
Creb3	C	A	4: 43,565,327 (GRCm39)	R202S	probably damaging	Het
Cyp2j9	T	A	4: 96,460,201 (GRCm39)	K434M	probably damaging	Het
Dnai3	G	T	3: 145,769,235 (GRCm39)	T522K	possibly damaging	Het
Dpp10	A	T	1: 123,832,833 (GRCm39)	V48E	probably null	Het
Dsg2	A	G	18: 20,734,530 (GRCm39)	K836R	probably damaging	Het
Dst	A	G	1: 34,229,339 (GRCm39)	T1986A	probably benign	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Ecm2	A	G	13: 49,683,732 (GRCm39)	D570G	probably benign	Het
Efhc1	T	A	1: 21,059,784 (GRCm39)	C611*	probably null	Het
Epop	T	C	11: 97,519,480 (GRCm39)	T210A	probably benign	Het
Erc2	A	G	14: 27,733,593 (GRCm39)	I556V	probably benign	Het
Fdxacb1	A	T	9: 50,682,946 (GRCm39)	N101I	probably benign	Het
Fhad1	T	C	4: 141,709,473 (GRCm39)	S294G	possibly damaging	Het
Galnt16	A	G	12: 80,630,430 (GRCm39)	D262G	probably damaging	Het
Gorab	A	G	1: 163,224,625 (GRCm39)	S59P	probably damaging	Het
Gpr161	G	T	1: 165,134,132 (GRCm39)	M131I	probably damaging	Het
Gpr22	T	A	12: 31,759,202 (GRCm39)	M270L	probably benign	Het
Grin3b	C	A	10: 79,806,746 (GRCm39)	Q5K	probably benign	Het
Grin3b	C	T	10: 79,810,480 (GRCm39)	A662V	probably damaging	Het
Gsdmc	A	G	15: 63,673,748 (GRCm39)	I179T	probably benign	Het
Gsdmc2	T	A	15: 63,700,086 (GRCm39)	M229L	probably benign	Het
H2-Eb2	A	G	17: 34,553,278 (GRCm39)	I155V	probably benign	Het
Hoga1	A	C	19: 42,048,459 (GRCm39)		probably null	Het
Hs3st5	A	G	10: 36,708,882 (GRCm39)	Y139C	probably damaging	Het
Il10ra	C	A	9: 45,167,109 (GRCm39)	A481S	probably benign	Het
Ints2	T	A	11: 86,139,760 (GRCm39)	H278L	possibly damaging	Het
Kalrn	T	G	16: 33,796,108 (GRCm39)	L1222F	probably damaging	Het
Klhl25	T	A	7: 75,516,480 (GRCm39)	V157D	probably damaging	Het
Klk1b26	A	T	7: 43,666,324 (GRCm39)	T256S	probably damaging	Het
Krt81	T	C	15: 101,360,435 (GRCm39)	Q184R	probably benign	Het
Lce1k	A	T	3: 92,714,125 (GRCm39)	C20S	unknown	Het
Letm1	A	AG	5: 33,926,859 (GRCm39)		probably null	Het
Lin54	A	G	5: 100,633,660 (GRCm39)		probably null	Het
Lrrc37a	T	C	11: 103,391,087 (GRCm39)	E1446G	probably benign	Het
Macf1	A	G	4: 123,350,488 (GRCm39)	S3792P	probably damaging	Het
Manba	T	A	3: 135,256,952 (GRCm39)	D538E	probably benign	Het
Mcc	C	A	18: 44,624,382 (GRCm39)	E213*	probably null	Het
Mfap4	T	C	11: 61,376,633 (GRCm39)		probably null	Het
Muc21	A	T	17: 35,929,600 (GRCm39)	S1529T	probably benign	Het
Nebl	T	A	2: 17,457,321 (GRCm39)	I80F	probably damaging	Het
Nek4	A	G	14: 30,678,910 (GRCm39)	I145V	probably damaging	Het
Nlrp14	T	C	7: 106,795,407 (GRCm39)	V230A	probably benign	Het
Nxf3	G	A	X: 134,976,583 (GRCm39)	P380S	possibly damaging	Het
Or11h6	G	A	14: 50,880,323 (GRCm39)	C195Y	possibly damaging	Het
Or1a1	T	C	11: 74,086,989 (GRCm39)	V220A	probably damaging	Het
Or5b99	T	C	19: 12,976,866 (GRCm39)	V172A	possibly damaging	Het
Or5p66	C	A	7: 107,885,566 (GRCm39)	G256*	probably null	Het
Or6k8-ps1	C	T	1: 173,979,687 (GRCm39)	H202Y	probably damaging	Het
Pcdhb13	C	T	18: 37,576,912 (GRCm39)	T430I	possibly damaging	Het
Piezo2	A	T	18: 63,207,733 (GRCm39)	L1426Q	probably null	Het
Pigk	T	A	3: 152,450,131 (GRCm39)	Y212N	probably damaging	Het
Pigm	T	G	1: 172,204,828 (GRCm39)	L188R	probably damaging	Het
Plce1	T	C	19: 38,766,368 (GRCm39)	F2117S	probably damaging	Het
Plec	A	G	15: 76,057,743 (GRCm39)	F4055L	probably damaging	Het
Plk5	C	T	10: 80,198,936 (GRCm39)	S435L	possibly damaging	Het
Pms1	G	A	1: 53,321,201 (GRCm39)	L11F	probably damaging	Het
Prl3b1	C	T	13: 27,431,895 (GRCm39)	T140I	possibly damaging	Het
Prl7a1	T	G	13: 27,817,655 (GRCm39)	D203A	probably damaging	Het
Psg17	A	G	7: 18,548,577 (GRCm39)	V398A	probably benign	Het
Pum1	T	A	4: 130,445,529 (GRCm39)	I166K	possibly damaging	Het
R3hdm1	T	A	1: 128,096,753 (GRCm39)	D108E	probably damaging	Het
Reln	A	T	5: 22,174,358 (GRCm39)	D1948E	possibly damaging	Het
Rnf112	C	T	11: 61,343,252 (GRCm39)	R141Q	probably damaging	Het
Rnf145	T	C	11: 44,452,293 (GRCm39)	V424A	possibly damaging	Het
Serpina3m	C	A	12: 104,355,958 (GRCm39)	Y208*	probably null	Het
Serpind1	T	C	16: 17,160,808 (GRCm39)	V446A	probably benign	Het
Shc3	T	A	13: 51,596,872 (GRCm39)	M384L	probably benign	Het
Slc38a11	A	G	2: 65,160,683 (GRCm39)	F304L	probably benign	Het
Slpi	C	T	2: 164,197,463 (GRCm39)	C28Y	probably damaging	Het
Specc1	C	A	11: 61,920,120 (GRCm39)	P7T	possibly damaging	Het
Spint5	T	C	2: 164,558,903 (GRCm39)		probably benign	Het
Ssr2	T	A	3: 88,484,174 (GRCm39)		probably benign	Het
Tbrg1	T	C	9: 37,560,715 (GRCm39)	D387G	probably benign	Het
Tex14	T	G	11: 87,440,296 (GRCm39)	L1367R	probably damaging	Het
Tfpi	A	C	2: 84,288,360 (GRCm39)		probably benign	Het
Tlr5	T	A	1: 182,801,912 (GRCm39)	D405E	probably damaging	Het
Tnnt3	C	T	7: 142,065,262 (GRCm39)	R131C	possibly damaging	Het
Tnxb	T	C	17: 34,890,878 (GRCm39)	V407A	probably damaging	Het
Tnxb	A	G	17: 34,901,225 (GRCm39)	Y1013C	probably damaging	Het
Tpx2	T	A	2: 152,732,544 (GRCm39)	M606K	probably benign	Het
Trim30a	T	A	7: 104,079,437 (GRCm39)		probably benign	Het
Trim46	A	T	3: 89,145,008 (GRCm39)	Y489N	probably damaging	Het
Trpm6	A	T	19: 18,773,648 (GRCm39)	H380L	probably benign	Het
Tstd2	A	G	4: 46,120,563 (GRCm39)	I279T	probably benign	Het
Ttn	C	T	2: 76,776,735 (GRCm39)		probably null	Het
Txnl1	T	C	18: 63,812,585 (GRCm39)	T70A	probably benign	Het
Ush2a	C	T	1: 188,310,729 (GRCm39)		probably benign	Het
Usp1	A	G	4: 98,822,531 (GRCm39)	D615G	probably benign	Het
Virma	T	A	4: 11,519,242 (GRCm39)	C830S	probably benign	Het
Vmn1r7	A	T	6: 57,001,853 (GRCm39)	S136T	probably benign	Het
Vmn2r9	A	G	5: 108,994,305 (GRCm39)	V448A	probably damaging	Het
Vps11	G	A	9: 44,270,524 (GRCm39)	H183Y	probably damaging	Het
Vsig10l	A	G	7: 43,116,892 (GRCm39)	T476A	possibly damaging	Het
Whamm	C	T	7: 81,241,519 (GRCm39)	R277*	probably null	Het
Wnt8a	A	G	18: 34,677,937 (GRCm39)	D115G	probably damaging	Het
Xndc1	T	A	7: 101,722,398 (GRCm39)	V21E	probably damaging	Het
Zc3hav1	C	A	6: 38,313,452 (GRCm39)	V198L	probably damaging	Het
Zfp874a	T	A	13: 67,590,623 (GRCm39)	I354F	probably benign	Het
Zfr2	A	T	10: 81,078,686 (GRCm39)	D306V	possibly damaging	Het

Other mutations in Spib

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0166:Spib	UTSW	7	44,179,324 (GRCm39)	missense	probably damaging	1.00
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'- TTGTCAGACACAGAGGCCTAAGG -3'
(R):5'- CCAAGAGTGATGTGCAGGTG -3'

Sequencing Primer
(F):5'- GTGTCTTTGTGCACAACGGAAAC -3'
(R):5'- TGACCCTGGTCTCCCACAG -3'

Posted On

2014-08-25