Incidental Mutation 'IGL01902:Bnc2'
| ID |
179554 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bnc2
|
| Ensembl Gene |
ENSMUSG00000028487 |
| Gene Name |
basonuclin 2 |
| Synonyms |
|
| Accession Numbers |
|
| Is this an essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01902
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
84275095-84675275 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84390944 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 138
(I138T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135375
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102820]
[ENSMUST00000107198]
[ENSMUST00000175756]
[ENSMUST00000175800]
[ENSMUST00000175969]
[ENSMUST00000176346]
[ENSMUST00000176418]
[ENSMUST00000176612]
[ENSMUST00000176691]
[ENSMUST00000176947]
|
| AlphaFold |
Q8BMQ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102820
AA Change: I233T
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099884
Gene: ENSMUSG00000028487
AA Change: I233T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
362 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
400 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
469 |
492 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
497 |
526 |
7.11e0 |
SMART |
|
low complexity region
|
612 |
629 |
N/A |
INTRINSIC |
|
low complexity region
|
633 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
676 |
690 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
861 |
884 |
1.62e0 |
SMART |
|
ZnF_C2H2
|
889 |
916 |
4.81e0 |
SMART |
|
low complexity region
|
991 |
1008 |
N/A |
INTRINSIC |
|
low complexity region
|
1048 |
1062 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1063 |
1086 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
1091 |
1118 |
3.78e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107198
AA Change: I205T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102816
Gene: ENSMUSG00000028487
AA Change: I205T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
334 |
350 |
N/A |
INTRINSIC |
|
low complexity region
|
361 |
372 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
441 |
464 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
469 |
498 |
7.11e0 |
SMART |
|
low complexity region
|
584 |
601 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
614 |
N/A |
INTRINSIC |
|
low complexity region
|
648 |
662 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
833 |
856 |
1.62e0 |
SMART |
|
ZnF_C2H2
|
861 |
888 |
4.81e0 |
SMART |
|
low complexity region
|
963 |
980 |
N/A |
INTRINSIC |
|
low complexity region
|
1020 |
1034 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1035 |
1058 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
1063 |
1090 |
3.78e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123276
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175756
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175757
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000175800
AA Change: I127T
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134795
Gene: ENSMUSG00000028487
AA Change: I127T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
256 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
294 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175969
AA Change: I144T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176346
|
| SMART Domains |
Protein: ENSMUSP00000134942
Gene: ENSMUSG00000028487
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176418
AA Change: I238T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000135569
Gene: ENSMUSG00000028487
AA Change: I238T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
367 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
394 |
405 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176476
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176612
AA Change: I163T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135778
Gene: ENSMUSG00000028487
AA Change: I163T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
292 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
330 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
399 |
422 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
427 |
456 |
7.11e0 |
SMART |
|
low complexity region
|
542 |
559 |
N/A |
INTRINSIC |
|
low complexity region
|
563 |
572 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
620 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
791 |
814 |
1.62e0 |
SMART |
|
low complexity region
|
832 |
846 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176691
AA Change: I138T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135375
Gene: ENSMUSG00000028487
AA Change: I138T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
267 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
305 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
374 |
397 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
402 |
431 |
7.11e0 |
SMART |
|
low complexity region
|
517 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
538 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
581 |
595 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
766 |
789 |
1.62e0 |
SMART |
|
ZnF_C2H2
|
794 |
821 |
4.81e0 |
SMART |
|
low complexity region
|
896 |
913 |
N/A |
INTRINSIC |
|
low complexity region
|
953 |
967 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
968 |
991 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
996 |
1023 |
3.78e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176947
AA Change: I191T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177256
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved zinc finger protein. The encoded protein functions in skin color saturation. Mutations in this gene are associated with facial pigmented spots. This gene is also associated with susceptibility to adolescent idiopathic scoliosis. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a gene trap insertion die within 24 hrs of birth and display cleft palate, an overall size reduction of the head and tongue, and abnormal craniofacial bone development due to impaired multiplication of embryonic craniofacial mesenchymal cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
A |
G |
7: 43,497,843 |
S228P |
probably damaging |
Het |
| Adamtsl2 |
A |
T |
2: 27,087,252 |
I242F |
probably damaging |
Het |
| Bicdl1 |
A |
G |
5: 115,651,874 |
L284P |
probably damaging |
Het |
| Cep350 |
A |
G |
1: 155,861,985 |
L2704S |
probably damaging |
Het |
| Col7a1 |
C |
A |
9: 108,977,827 |
P2442T |
unknown |
Het |
| Cpne6 |
A |
T |
14: 55,512,750 |
T113S |
possibly damaging |
Het |
| Crnkl1 |
T |
C |
2: 145,924,712 |
|
probably null |
Het |
| Cyp2c67 |
T |
A |
19: 39,649,026 |
D2V |
probably damaging |
Het |
| Frzb |
T |
A |
2: 80,413,367 |
S323C |
probably damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 |
S144L |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,022,771 |
W41G |
probably benign |
Het |
| Ins2 |
C |
T |
7: 142,679,442 |
C31Y |
probably damaging |
Het |
| Lipf |
A |
T |
19: 33,970,779 |
N234Y |
probably benign |
Het |
| Mtf1 |
T |
C |
4: 124,804,927 |
F73L |
probably damaging |
Het |
| Nrxn1 |
A |
G |
17: 91,088,491 |
|
probably null |
Het |
| Pcnx |
A |
G |
12: 81,979,094 |
T1538A |
probably damaging |
Het |
| Polr1a |
T |
A |
6: 71,963,748 |
V47D |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,118,638 |
E502G |
probably benign |
Het |
| Ralgapa2 |
C |
T |
2: 146,315,014 |
V1886M |
probably damaging |
Het |
| Rapgef3 |
T |
A |
15: 97,750,300 |
H676L |
probably benign |
Het |
| Rbm20 |
A |
T |
19: 53,840,991 |
N607Y |
probably damaging |
Het |
| Smc5 |
G |
A |
19: 23,259,768 |
T233I |
possibly damaging |
Het |
| Snx13 |
A |
T |
12: 35,133,307 |
|
probably null |
Het |
| Suz12 |
T |
A |
11: 80,025,950 |
C510S |
probably benign |
Het |
| Tab2 |
A |
T |
10: 7,919,992 |
M242K |
probably benign |
Het |
| Tep1 |
A |
G |
14: 50,866,091 |
|
probably benign |
Het |
| Vmn2r-ps159 |
C |
T |
4: 156,338,254 |
|
noncoding transcript |
Het |
|
| Other mutations in Bnc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01593:Bnc2
|
APN |
4 |
84276241 |
splice site |
probably null |
|
|
IGL02228:Bnc2
|
APN |
4 |
84293076 |
missense |
possibly damaging |
0.70 |
|
IGL02396:Bnc2
|
APN |
4 |
84276009 |
missense |
probably benign |
0.16 |
|
R0125:Bnc2
|
UTSW |
4 |
84292932 |
missense |
probably damaging |
1.00 |
|
R0650:Bnc2
|
UTSW |
4 |
84293196 |
missense |
probably benign |
0.04 |
|
R1082:Bnc2
|
UTSW |
4 |
84546335 |
missense |
probably damaging |
1.00 |
|
R1334:Bnc2
|
UTSW |
4 |
84276289 |
missense |
possibly damaging |
0.49 |
|
R1439:Bnc2
|
UTSW |
4 |
84276068 |
missense |
probably benign |
0.38 |
|
R1447:Bnc2
|
UTSW |
4 |
84293220 |
missense |
probably benign |
0.13 |
|
R1515:Bnc2
|
UTSW |
4 |
84414326 |
missense |
probably null |
0.99 |
|
R1548:Bnc2
|
UTSW |
4 |
84275957 |
missense |
probably damaging |
1.00 |
|
R1818:Bnc2
|
UTSW |
4 |
84291874 |
missense |
possibly damaging |
0.70 |
|
R1819:Bnc2
|
UTSW |
4 |
84291874 |
missense |
possibly damaging |
0.70 |
|
R2345:Bnc2
|
UTSW |
4 |
84292503 |
missense |
probably damaging |
1.00 |
|
R2897:Bnc2
|
UTSW |
4 |
84292915 |
missense |
probably damaging |
1.00 |
|
R2898:Bnc2
|
UTSW |
4 |
84292915 |
missense |
probably damaging |
1.00 |
|
R2966:Bnc2
|
UTSW |
4 |
84293517 |
missense |
probably benign |
0.14 |
|
R3404:Bnc2
|
UTSW |
4 |
84546241 |
missense |
probably damaging |
0.98 |
|
R4235:Bnc2
|
UTSW |
4 |
84293514 |
missense |
probably damaging |
0.96 |
|
R4546:Bnc2
|
UTSW |
4 |
84291976 |
missense |
probably benign |
0.34 |
|
R4676:Bnc2
|
UTSW |
4 |
84292819 |
missense |
probably damaging |
1.00 |
|
R4926:Bnc2
|
UTSW |
4 |
84276179 |
missense |
probably damaging |
1.00 |
|
R5060:Bnc2
|
UTSW |
4 |
84531635 |
missense |
probably benign |
0.02 |
|
R5365:Bnc2
|
UTSW |
4 |
84411429 |
intron |
probably benign |
|
|
R5735:Bnc2
|
UTSW |
4 |
84292671 |
missense |
probably damaging |
1.00 |
|
R5872:Bnc2
|
UTSW |
4 |
84292770 |
missense |
possibly damaging |
0.86 |
|
R5921:Bnc2
|
UTSW |
4 |
84293055 |
missense |
possibly damaging |
0.95 |
|
R5999:Bnc2
|
UTSW |
4 |
84555900 |
missense |
probably benign |
0.20 |
|
R6351:Bnc2
|
UTSW |
4 |
84293143 |
missense |
probably benign |
0.16 |
|
R6869:Bnc2
|
UTSW |
4 |
84293496 |
missense |
probably damaging |
1.00 |
|
R7236:Bnc2
|
UTSW |
4 |
84555864 |
missense |
probably benign |
0.31 |
|
R7363:Bnc2
|
UTSW |
4 |
84292071 |
missense |
probably benign |
0.02 |
|
R7643:Bnc2
|
UTSW |
4 |
84506574 |
missense |
probably benign |
0.01 |
|
R8017:Bnc2
|
UTSW |
4 |
84411425 |
missense |
|
|
|
R8019:Bnc2
|
UTSW |
4 |
84411425 |
missense |
|
|
|
R8050:Bnc2
|
UTSW |
4 |
84292336 |
missense |
probably benign |
0.00 |
|
R8311:Bnc2
|
UTSW |
4 |
84276345 |
missense |
possibly damaging |
0.69 |
|
R8463:Bnc2
|
UTSW |
4 |
84293371 |
missense |
probably damaging |
0.99 |
|
R8676:Bnc2
|
UTSW |
4 |
84276313 |
missense |
possibly damaging |
0.65 |
|
R8722:Bnc2
|
UTSW |
4 |
84293646 |
missense |
possibly damaging |
0.92 |
|
R8845:Bnc2
|
UTSW |
4 |
84276101 |
missense |
possibly damaging |
0.81 |
|
R8887:Bnc2
|
UTSW |
4 |
84291470 |
intron |
probably benign |
|
|
R9051:Bnc2
|
UTSW |
4 |
84291901 |
missense |
probably benign |
0.00 |
|
R9142:Bnc2
|
UTSW |
4 |
84555874 |
missense |
probably benign |
0.03 |
|
R9165:Bnc2
|
UTSW |
4 |
84411494 |
missense |
|
|
|
X0021:Bnc2
|
UTSW |
4 |
84293140 |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
