Incidental Mutation 'R4596:Itgb1bp1'
| ID |
344402 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgb1bp1
|
| Ensembl Gene |
ENSMUSG00000062352 |
| Gene Name |
integrin beta 1 binding protein 1 |
| Synonyms |
bodenin |
| MMRRC Submission |
041812-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4596 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
21317247-21336285 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 21322135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 101
(L101F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050990]
[ENSMUST00000064595]
[ENSMUST00000076260]
[ENSMUST00000090834]
[ENSMUST00000101562]
[ENSMUST00000172834]
[ENSMUST00000173729]
[ENSMUST00000232072]
|
| AlphaFold |
O35671 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050990
|
| SMART Domains |
Protein: ENSMUSP00000054631
Gene: ENSMUSG00000052632
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
127 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
166 |
N/A |
INTRINSIC |
|
PH
|
306 |
399 |
2.31e-18 |
SMART |
|
ArfGap
|
421 |
541 |
6.82e-27 |
SMART |
|
ANK
|
584 |
616 |
6.17e-1 |
SMART |
|
ANK
|
620 |
649 |
4.03e-5 |
SMART |
|
ANK
|
653 |
683 |
1.48e3 |
SMART |
|
low complexity region
|
693 |
707 |
N/A |
INTRINSIC |
|
low complexity region
|
765 |
789 |
N/A |
INTRINSIC |
|
low complexity region
|
827 |
847 |
N/A |
INTRINSIC |
|
SH3
|
896 |
954 |
4.28e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064595
|
| SMART Domains |
Protein: ENSMUSP00000063217
Gene: ENSMUSG00000052632
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BAR
|
11 |
247 |
2.4e-9 |
PFAM |
|
Pfam:BAR_3
|
31 |
265 |
3.3e-28 |
PFAM |
|
PH
|
306 |
399 |
2.31e-18 |
SMART |
|
ArfGap
|
421 |
541 |
6.82e-27 |
SMART |
|
ANK
|
584 |
616 |
6.17e-1 |
SMART |
|
ANK
|
620 |
649 |
4.03e-5 |
SMART |
|
ANK
|
653 |
683 |
1.48e3 |
SMART |
|
low complexity region
|
693 |
707 |
N/A |
INTRINSIC |
|
low complexity region
|
765 |
789 |
N/A |
INTRINSIC |
|
low complexity region
|
837 |
849 |
N/A |
INTRINSIC |
|
low complexity region
|
872 |
892 |
N/A |
INTRINSIC |
|
SH3
|
941 |
999 |
4.28e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076260
AA Change: L101F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075609
Gene: ENSMUSG00000062352
AA Change: L101F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
29 |
N/A |
INTRINSIC |
|
PTB
|
58 |
200 |
1.42e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090834
|
| SMART Domains |
Protein: ENSMUSP00000088344
Gene: ENSMUSG00000052632
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
127 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
166 |
N/A |
INTRINSIC |
|
Blast:PH
|
196 |
318 |
1e-50 |
BLAST |
|
Blast:ArfGap
|
334 |
395 |
5e-30 |
BLAST |
|
ANK
|
438 |
470 |
6.17e-1 |
SMART |
|
ANK
|
474 |
503 |
4.03e-5 |
SMART |
|
ANK
|
507 |
537 |
1.48e3 |
SMART |
|
low complexity region
|
547 |
561 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
681 |
701 |
N/A |
INTRINSIC |
|
SH3
|
750 |
808 |
4.28e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101562
|
| SMART Domains |
Protein: ENSMUSP00000099098
Gene: ENSMUSG00000052632
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
127 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
166 |
N/A |
INTRINSIC |
|
PH
|
309 |
402 |
2.31e-18 |
SMART |
|
ArfGap
|
424 |
544 |
6.82e-27 |
SMART |
|
ANK
|
587 |
619 |
6.17e-1 |
SMART |
|
ANK
|
623 |
652 |
4.03e-5 |
SMART |
|
ANK
|
656 |
686 |
1.48e3 |
SMART |
|
low complexity region
|
696 |
710 |
N/A |
INTRINSIC |
|
low complexity region
|
768 |
792 |
N/A |
INTRINSIC |
|
low complexity region
|
830 |
850 |
N/A |
INTRINSIC |
|
SH3
|
899 |
957 |
4.28e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172834
AA Change: L101F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134508
Gene: ENSMUSG00000062352
AA Change: L101F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ICAP-1_inte_bdg
|
1 |
183 |
5.1e-115 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173614
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173729
AA Change: L101F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134627
Gene: ENSMUSG00000062352
AA Change: L101F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
29 |
N/A |
INTRINSIC |
|
PTB
|
58 |
200 |
1.42e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232072
AA Change: L101F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173688
|
| SMART Domains |
Protein: ENSMUSP00000133557
Gene: ENSMUSG00000062352
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ICAP-1_inte_bdg
|
1 |
79 |
1.1e-45 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The cytoplasmic domains of integrins are essential for cell adhesion. The protein encoded by this gene binds to the beta1 integrin cytoplasmic domain. The interaction between this protein and beta1 integrin is highly specific. Two isoforms of this protein are derived from alternatively spliced transcripts. The shorter form of this protein does not interact with the beta1 integrin cytoplasmic domain. The longer form is a phosphoprotein and the extent of its phosphorylation is regulated by the cell-matrix interaction, suggesting an important role of this protein during integrin-dependent cell adhesion. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality, reduced weight and length, reduced ossification, and skull and skeleton abnormalities. Mice homozygous for a gene trap mutation are viable and do not exhibit any obvious abnormalites. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
T |
C |
9: 57,165,088 (GRCm39) |
K429E |
probably benign |
Het |
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Adad1 |
T |
C |
3: 37,119,341 (GRCm39) |
S141P |
probably damaging |
Het |
| Anapc4 |
T |
C |
5: 52,999,060 (GRCm39) |
V124A |
probably benign |
Het |
| Anxa6 |
G |
T |
11: 54,885,409 (GRCm39) |
|
probably null |
Het |
| Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
| Arhgef40 |
T |
C |
14: 52,224,681 (GRCm39) |
|
probably null |
Het |
| Asz1 |
A |
T |
6: 18,103,592 (GRCm39) |
I116K |
possibly damaging |
Het |
| Bcam |
T |
C |
7: 19,498,082 (GRCm39) |
N314D |
probably damaging |
Het |
| Cfi |
T |
C |
3: 129,662,149 (GRCm39) |
V376A |
probably damaging |
Het |
| Cipc |
A |
G |
12: 87,008,728 (GRCm39) |
T196A |
probably benign |
Het |
| Cnksr1 |
A |
G |
4: 133,961,189 (GRCm39) |
V225A |
possibly damaging |
Het |
| Col4a4 |
G |
A |
1: 82,448,940 (GRCm39) |
P1217S |
unknown |
Het |
| Dync2h1 |
C |
T |
9: 6,992,595 (GRCm39) |
D3996N |
probably benign |
Het |
| Fasl |
T |
C |
1: 161,615,838 (GRCm39) |
N6S |
probably benign |
Het |
| Fhod3 |
A |
T |
18: 25,248,775 (GRCm39) |
Q1318L |
probably benign |
Het |
| Gmps |
G |
T |
3: 63,901,338 (GRCm39) |
E386* |
probably null |
Het |
| Hspa13 |
C |
T |
16: 75,555,114 (GRCm39) |
G324D |
probably benign |
Het |
| Ift80 |
A |
G |
3: 68,898,092 (GRCm39) |
V81A |
probably benign |
Het |
| Jak3 |
T |
A |
8: 72,137,275 (GRCm39) |
S779T |
probably damaging |
Het |
| Klhl21 |
G |
T |
4: 152,096,997 (GRCm39) |
R421L |
probably benign |
Het |
| Mgat4c |
T |
C |
10: 102,224,422 (GRCm39) |
F212S |
probably damaging |
Het |
| Msl3l2 |
T |
A |
10: 55,991,741 (GRCm39) |
F155L |
probably benign |
Het |
| Nfat5 |
A |
G |
8: 108,078,132 (GRCm39) |
K406E |
possibly damaging |
Het |
| Nsd2 |
A |
T |
5: 34,040,262 (GRCm39) |
H933L |
probably damaging |
Het |
| Or4c31 |
A |
G |
2: 88,292,538 (GRCm39) |
T304A |
probably benign |
Het |
| Or51h5 |
A |
G |
7: 102,577,458 (GRCm39) |
T208A |
possibly damaging |
Het |
| Or6f1 |
A |
T |
7: 85,970,631 (GRCm39) |
H176Q |
probably damaging |
Het |
| Or9q2 |
G |
A |
19: 13,772,264 (GRCm39) |
T237I |
probably damaging |
Het |
| Paxbp1 |
T |
C |
16: 90,827,435 (GRCm39) |
I467V |
probably benign |
Het |
| Pcdha8 |
A |
C |
18: 37,126,611 (GRCm39) |
Q364H |
possibly damaging |
Het |
| Prr14l |
T |
C |
5: 32,986,652 (GRCm39) |
T948A |
probably benign |
Het |
| Ptgfr |
A |
T |
3: 151,507,430 (GRCm39) |
V311D |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,671,558 (GRCm39) |
Y495C |
probably benign |
Het |
| Sec61g |
A |
T |
11: 16,458,127 (GRCm39) |
S23T |
probably benign |
Het |
| Sema3a |
G |
T |
5: 13,620,125 (GRCm39) |
V458F |
probably damaging |
Het |
| Slc16a14 |
T |
A |
1: 84,907,078 (GRCm39) |
E65D |
probably damaging |
Het |
| Slc35f6 |
T |
C |
5: 30,805,406 (GRCm39) |
M14T |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,127,202 (GRCm39) |
I882F |
probably damaging |
Het |
| Sox17 |
C |
A |
1: 4,562,860 (GRCm39) |
E48D |
possibly damaging |
Het |
| Thbs1 |
A |
T |
2: 117,945,236 (GRCm39) |
I270F |
possibly damaging |
Het |
| Tia1 |
A |
G |
6: 86,397,389 (GRCm39) |
I121V |
probably benign |
Het |
| Trim30d |
A |
T |
7: 104,121,733 (GRCm39) |
H337Q |
probably benign |
Het |
| Tvp23b |
G |
A |
11: 62,774,544 (GRCm39) |
A63T |
probably benign |
Het |
| U2surp |
C |
T |
9: 95,367,681 (GRCm39) |
V437I |
probably damaging |
Het |
| Ube2i |
T |
C |
17: 25,484,298 (GRCm39) |
|
probably benign |
Het |
| Vmn1r62 |
A |
G |
7: 5,678,306 (GRCm39) |
|
probably benign |
Het |
| Wdr3 |
G |
A |
3: 100,060,183 (GRCm39) |
S310F |
possibly damaging |
Het |
| Wdr72 |
A |
T |
9: 74,058,887 (GRCm39) |
M327L |
probably benign |
Het |
|
| Other mutations in Itgb1bp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01831:Itgb1bp1
|
APN |
12 |
21,329,469 (GRCm39) |
missense |
unknown |
|
|
IGL02812:Itgb1bp1
|
APN |
12 |
21,320,879 (GRCm39) |
splice site |
probably benign |
|
|
IGL02820:Itgb1bp1
|
APN |
12 |
21,326,854 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03046:Itgb1bp1
|
UTSW |
12 |
21,329,436 (GRCm39) |
missense |
unknown |
|
|
R0491:Itgb1bp1
|
UTSW |
12 |
21,326,896 (GRCm39) |
unclassified |
probably benign |
|
|
R0511:Itgb1bp1
|
UTSW |
12 |
21,321,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2158:Itgb1bp1
|
UTSW |
12 |
21,326,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4476:Itgb1bp1
|
UTSW |
12 |
21,320,957 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4991:Itgb1bp1
|
UTSW |
12 |
21,324,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7128:Itgb1bp1
|
UTSW |
12 |
21,322,089 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8963:Itgb1bp1
|
UTSW |
12 |
21,324,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9435:Itgb1bp1
|
UTSW |
12 |
21,320,943 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9748:Itgb1bp1
|
UTSW |
12 |
21,324,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9753:Itgb1bp1
|
UTSW |
12 |
21,326,890 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCTCATGTGTGCTCTCAG -3'
(R):5'- CAGTACACAGGGAACGATCC -3'
Sequencing Primer
(F):5'- CTCTCAGGAATGAGCAGAGCTTAAC -3'
(R):5'- ACGATCCATCTGAATTTGGAGG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation