Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00907:Ibtk'

28132

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ibtk

Ensembl Gene

ENSMUSG00000035941

Gene Name

inhibitor of Bruton agammaglobulinemia tyrosine kinase

Synonyms

5430411K16Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00907

Quality Score

Status

Chromosome

Chromosomal Location

85569413-85631387 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85572384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1269 (S1269P)

Ref Sequence

ENSEMBL: ENSMUSP00000041145 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039213] [ENSMUST00000187521]

AlphaFold

Q6ZPR6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039213
AA Change: S1269P

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000041145
Gene: ENSMUSG00000035941
AA Change: S1269P

Domain	Start	End	E-Value	Type
ANK	51	80	2e0	SMART
ANK	85	114	2.58e-3	SMART
Pfam:RCC1	143	192	8.1e-10	PFAM
Pfam:RCC1	195	244	1.1e-14	PFAM
Pfam:RCC1	247	299	5.3e-13	PFAM
low complexity region	307	318	N/A	INTRINSIC
low complexity region	543	551	N/A	INTRINSIC
BTB	565	745	5.48e-13	SMART
BTB	769	872	4.09e-12	SMART
low complexity region	977	990	N/A	INTRINSIC
low complexity region	1269	1281	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186322

Predicted Effect

probably benign
Transcript: ENSMUST00000187521

SMART Domains

Protein: ENSMUSP00000139424
Gene: ENSMUSG00000035941

Domain	Start	End	E-Value	Type
ANK	51	80	1.3e-2	SMART
ANK	85	114	1.7e-5	SMART
Pfam:RCC1	143	192	1.9e-8	PFAM
Pfam:RCC1	195	244	1.4e-12	PFAM
Pfam:RCC1	247	299	2.7e-10	PFAM
low complexity region	307	318	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Bruton tyrosine kinase (BTK) is a protein tyrosine kinase that is expressed in B cells, macrophages, and neutrophils. The protein encoded by this gene binds to BTK and downregulates BTK's kinase activity. In addition, the encoded protein disrupts BTK-mediated calcium mobilization and negatively regulates the activation of nuclear factor-kappa-B-driven transcription. This gene has a pseudogene on chromosome 18. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit more sustained calcium fluxes in spleen cells stimulated with IgM. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armt1	A	G	10: 4,454,051 (GRCm38)	F379V	possibly damaging	Het
Atp8b1	T	C	18: 64,694,776 (GRCm39)	D502G	possibly damaging	Het
Brwd3	A	G	X: 107,827,852 (GRCm39)		probably benign	Het
Ccdc171	T	A	4: 83,782,486 (GRCm39)	H1259Q	probably damaging	Het
Chd7	T	C	4: 8,840,435 (GRCm39)	I1401T	probably damaging	Het
Csf1	T	C	3: 107,657,662 (GRCm39)	N76S	probably damaging	Het
Dld	A	G	12: 31,382,329 (GRCm39)		probably benign	Het
Eif5	T	A	12: 111,506,989 (GRCm39)	I141N	probably damaging	Het
Etl4	G	A	2: 20,771,289 (GRCm39)	G674D	possibly damaging	Het
Fam234a	G	A	17: 26,432,500 (GRCm39)	R550W	probably damaging	Het
Hipk2	A	G	6: 38,795,208 (GRCm39)	S347P	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Hsd17b2	A	T	8: 118,461,433 (GRCm39)	I157L	probably benign	Het
Igsf3	T	C	3: 101,334,764 (GRCm39)		probably benign	Het
Kin	G	A	2: 10,085,515 (GRCm39)	R25H	probably damaging	Het
Kin	T	C	2: 10,085,517 (GRCm39)	W26R	probably damaging	Het
Kir3dl1	G	A	X: 135,425,911 (GRCm39)	C95Y	probably damaging	Het
Lamc2	A	G	1: 153,020,397 (GRCm39)	V383A	probably benign	Het
Mael	A	G	1: 166,032,418 (GRCm39)	Y314H	probably damaging	Het
Npat	T	C	9: 53,474,590 (GRCm39)	V794A	possibly damaging	Het
Nr4a2	T	A	2: 56,999,229 (GRCm39)	I340F	probably damaging	Het
Or4c103	A	G	2: 88,513,638 (GRCm39)	V146A	probably benign	Het
Or5p56	A	T	7: 107,590,097 (GRCm39)	D175V	probably damaging	Het
Or7g21	T	A	9: 19,032,528 (GRCm39)	D89E	possibly damaging	Het
Pdcd11	T	C	19: 47,096,003 (GRCm39)	V641A	probably benign	Het
Phf24	C	T	4: 42,938,667 (GRCm39)	T264I	probably benign	Het
Sars2	G	T	7: 28,452,848 (GRCm39)		probably benign	Het
Scn1a	A	C	2: 66,158,141 (GRCm39)	S411A	probably damaging	Het
Srsf5	T	C	12: 80,994,608 (GRCm39)	V112A	probably damaging	Het
Susd2	T	C	10: 75,476,765 (GRCm39)	N206S	probably benign	Het
Thrap3	C	T	4: 126,059,371 (GRCm39)	G892S	probably benign	Het
Ttc32	T	A	12: 9,084,953 (GRCm39)	Y58N	probably damaging	Het

Other mutations in Ibtk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00656:Ibtk	APN	9	85,599,598 (GRCm39)	splice site	probably null
IGL00852:Ibtk	APN	9	85,595,654 (GRCm39)	missense	probably benign	0.01
IGL01101:Ibtk	APN	9	85,614,675 (GRCm39)	splice site	probably benign
IGL02125:Ibtk	APN	9	85,617,123 (GRCm39)	missense	probably damaging	1.00
IGL02214:Ibtk	APN	9	85,596,232 (GRCm39)	splice site	probably benign
IGL02223:Ibtk	APN	9	85,592,419 (GRCm39)	splice site	probably benign
IGL02638:Ibtk	APN	9	85,601,946 (GRCm39)	missense	probably damaging	1.00
IGL02741:Ibtk	APN	9	85,608,665 (GRCm39)	missense	probably damaging	1.00
IGL03299:Ibtk	APN	9	85,603,189 (GRCm39)	missense	probably benign	0.27
IGL03493:Ibtk	APN	9	85,600,972 (GRCm39)	missense	probably benign	0.44
Biddie	UTSW	9	85,579,290 (GRCm39)	missense	possibly damaging	0.87
R0026:Ibtk	UTSW	9	85,572,356 (GRCm39)	missense	probably benign
R0026:Ibtk	UTSW	9	85,572,356 (GRCm39)	missense	probably benign
R0558:Ibtk	UTSW	9	85,619,591 (GRCm39)	missense	probably damaging	0.99
R0569:Ibtk	UTSW	9	85,590,234 (GRCm39)	splice site	probably benign
R0932:Ibtk	UTSW	9	85,617,099 (GRCm39)	missense	probably damaging	1.00
R0973:Ibtk	UTSW	9	85,625,630 (GRCm39)	missense	probably damaging	1.00
R1237:Ibtk	UTSW	9	85,602,801 (GRCm39)	missense	probably benign	0.00
R1245:Ibtk	UTSW	9	85,602,795 (GRCm39)	critical splice donor site	probably null
R1462:Ibtk	UTSW	9	85,606,198 (GRCm39)	missense	probably damaging	0.99
R1462:Ibtk	UTSW	9	85,606,198 (GRCm39)	missense	probably damaging	0.99
R1921:Ibtk	UTSW	9	85,585,135 (GRCm39)	missense	probably benign
R2090:Ibtk	UTSW	9	85,603,046 (GRCm39)	missense	probably benign	0.01
R2109:Ibtk	UTSW	9	85,588,603 (GRCm39)	missense	probably benign
R2277:Ibtk	UTSW	9	85,585,204 (GRCm39)	missense	probably benign
R2437:Ibtk	UTSW	9	85,590,178 (GRCm39)	missense	probably benign	0.27
R2446:Ibtk	UTSW	9	85,585,126 (GRCm39)	missense	probably benign	0.22
R3107:Ibtk	UTSW	9	85,592,467 (GRCm39)	missense	probably damaging	1.00
R3876:Ibtk	UTSW	9	85,600,479 (GRCm39)	missense	probably benign	0.06
R4160:Ibtk	UTSW	9	85,585,143 (GRCm39)	missense	probably benign	0.01
R4273:Ibtk	UTSW	9	85,608,784 (GRCm39)	missense	probably damaging	1.00
R4321:Ibtk	UTSW	9	85,617,125 (GRCm39)	missense	possibly damaging	0.49
R4827:Ibtk	UTSW	9	85,610,607 (GRCm39)	missense	probably benign	0.04
R4947:Ibtk	UTSW	9	85,592,465 (GRCm39)	missense	probably benign	0.00
R5228:Ibtk	UTSW	9	85,608,742 (GRCm39)	missense	possibly damaging	0.58
R5268:Ibtk	UTSW	9	85,625,743 (GRCm39)	missense	probably benign	0.00
R5327:Ibtk	UTSW	9	85,619,519 (GRCm39)	critical splice donor site	probably null
R5344:Ibtk	UTSW	9	85,617,057 (GRCm39)	missense	possibly damaging	0.90
R5414:Ibtk	UTSW	9	85,608,742 (GRCm39)	missense	possibly damaging	0.58
R5502:Ibtk	UTSW	9	85,602,916 (GRCm39)	missense	probably benign	0.13
R5756:Ibtk	UTSW	9	85,613,307 (GRCm39)	missense	possibly damaging	0.51
R7144:Ibtk	UTSW	9	85,625,744 (GRCm39)	missense	probably benign	0.03
R7196:Ibtk	UTSW	9	85,625,709 (GRCm39)	missense	probably damaging	1.00
R7490:Ibtk	UTSW	9	85,600,987 (GRCm39)	critical splice acceptor site	probably null
R7571:Ibtk	UTSW	9	85,604,353 (GRCm39)	missense	probably benign
R7757:Ibtk	UTSW	9	85,579,290 (GRCm39)	missense	possibly damaging	0.87
R8007:Ibtk	UTSW	9	85,572,770 (GRCm39)	missense	probably benign	0.09
R8065:Ibtk	UTSW	9	85,602,916 (GRCm39)	missense	probably benign	0.13
R8407:Ibtk	UTSW	9	85,603,119 (GRCm39)	missense	possibly damaging	0.93
R8711:Ibtk	UTSW	9	85,606,208 (GRCm39)	missense	probably benign
R8753:Ibtk	UTSW	9	85,610,819 (GRCm39)	missense	probably benign	0.01
R8835:Ibtk	UTSW	9	85,619,563 (GRCm39)	missense	possibly damaging	0.50
R8906:Ibtk	UTSW	9	85,625,457 (GRCm39)	missense	possibly damaging	0.91
R8980:Ibtk	UTSW	9	85,614,783 (GRCm39)	nonsense	probably null
R9140:Ibtk	UTSW	9	85,617,114 (GRCm39)	missense	probably damaging	1.00
R9230:Ibtk	UTSW	9	85,585,702 (GRCm39)	critical splice donor site	probably null
R9406:Ibtk	UTSW	9	85,603,393 (GRCm39)	nonsense	probably null
R9745:Ibtk	UTSW	9	85,613,280 (GRCm39)	missense	probably benign	0.02
X0021:Ibtk	UTSW	9	85,579,227 (GRCm39)	missense	possibly damaging	0.69

Posted On

2013-04-17