Incidental Mutation 'R5999:Bnc2'
| ID |
480712 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bnc2
|
| Ensembl Gene |
ENSMUSG00000028487 |
| Gene Name |
basonuclin zinc finger protein 2 |
| Synonyms |
8430420F16Rik, 5031434M05Rik |
| MMRRC Submission |
044178-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5999 (G1)
|
| Quality Score |
168.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
84193332-84593512 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 84474137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 3
(R3H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102820]
[ENSMUST00000107198]
[ENSMUST00000175756]
[ENSMUST00000175800]
[ENSMUST00000175969]
[ENSMUST00000176346]
[ENSMUST00000176691]
[ENSMUST00000176418]
[ENSMUST00000176947]
[ENSMUST00000176370]
[ENSMUST00000176612]
|
| AlphaFold |
Q8BMQ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102820
AA Change: R3H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099884
Gene: ENSMUSG00000028487
AA Change: R3H
| 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 benign
Transcript: ENSMUST00000107198
AA Change: R3H
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102816
Gene: ENSMUSG00000028487
AA Change: R3H
| 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 |
probably benign
Transcript: ENSMUST00000175800
|
| SMART Domains |
Protein: ENSMUSP00000134795
Gene: ENSMUSG00000028487
| 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 benign
Transcript: ENSMUST00000175969
AA Change: R9H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176346
AA Change: V17I
|
| SMART Domains |
Protein: ENSMUSP00000134942
Gene: ENSMUSG00000028487
AA Change: V17I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176691
AA Change: R3H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135375
Gene: ENSMUSG00000028487
AA Change: R3H
| 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 |
unknown
Transcript: ENSMUST00000176418
AA Change: R3H
|
| SMART Domains |
Protein: ENSMUSP00000135569
Gene: ENSMUSG00000028487
AA Change: R3H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
367 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
394 |
405 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176947
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176370
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176612
|
| SMART Domains |
Protein: ENSMUSP00000135778
Gene: ENSMUSG00000028487
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 90.9%
|
| Validation Efficiency |
98% (55/56) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot5 |
A |
G |
12: 84,122,328 (GRCm39) |
D304G |
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 4,093,925 (GRCm39) |
N2149S |
probably damaging |
Het |
| Akp3 |
T |
A |
1: 87,055,263 (GRCm39) |
Y437N |
probably damaging |
Het |
| Anks1b |
C |
T |
10: 90,194,910 (GRCm39) |
T530I |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,176,294 (GRCm39) |
F1799L |
probably damaging |
Het |
| Cald1 |
A |
T |
6: 34,723,273 (GRCm39) |
|
probably benign |
Het |
| Capn9 |
A |
G |
8: 125,315,817 (GRCm39) |
T87A |
probably damaging |
Het |
| Ccdc88c |
A |
G |
12: 100,934,613 (GRCm39) |
L175P |
probably damaging |
Het |
| Cd226 |
T |
C |
18: 89,225,343 (GRCm39) |
V80A |
probably damaging |
Het |
| Cd44 |
A |
T |
2: 102,675,742 (GRCm39) |
N310K |
probably benign |
Het |
| Cenpc1 |
T |
A |
5: 86,160,122 (GRCm39) |
K905N |
probably damaging |
Het |
| Cept1 |
A |
T |
3: 106,440,759 (GRCm39) |
D133E |
probably damaging |
Het |
| Cltc |
T |
C |
11: 86,594,955 (GRCm39) |
H1381R |
possibly damaging |
Het |
| Col4a4 |
T |
A |
1: 82,470,340 (GRCm39) |
T730S |
unknown |
Het |
| Col6a4 |
A |
T |
9: 105,945,120 (GRCm39) |
M998K |
probably benign |
Het |
| Cpne6 |
T |
C |
14: 55,750,516 (GRCm39) |
V119A |
probably benign |
Het |
| Ddx54 |
G |
T |
5: 120,761,645 (GRCm39) |
A474S |
probably benign |
Het |
| Dmbx1 |
G |
T |
4: 115,775,373 (GRCm39) |
N302K |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,882,279 (GRCm39) |
E617G |
probably benign |
Het |
| Ei24 |
A |
G |
9: 36,704,603 (GRCm39) |
V10A |
probably benign |
Het |
| Elp3 |
A |
G |
14: 65,768,989 (GRCm39) |
V543A |
probably benign |
Het |
| Frmd3 |
T |
C |
4: 74,088,928 (GRCm39) |
I375T |
possibly damaging |
Het |
| Gm6408 |
A |
G |
5: 146,421,067 (GRCm39) |
D232G |
possibly damaging |
Het |
| Inmt |
A |
T |
6: 55,151,933 (GRCm39) |
Y12* |
probably null |
Het |
| Inpp5k |
G |
T |
11: 75,523,926 (GRCm39) |
A44S |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 34,177,713 (GRCm39) |
T169S |
probably damaging |
Het |
| Kif28 |
A |
T |
1: 179,523,355 (GRCm39) |
F992I |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,489,203 (GRCm39) |
Y1199N |
probably damaging |
Het |
| Large2 |
C |
T |
2: 92,196,403 (GRCm39) |
E475K |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,942,366 (GRCm39) |
|
probably null |
Het |
| Mrpl42 |
T |
C |
10: 95,336,341 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,411,116 (GRCm39) |
H1354L |
unknown |
Het |
| Myof |
C |
A |
19: 37,928,304 (GRCm39) |
E1095* |
probably null |
Het |
| Ncor2 |
A |
G |
5: 125,110,505 (GRCm39) |
V1385A |
probably damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,773,280 (GRCm39) |
Y474C |
probably damaging |
Het |
| Or1j10 |
A |
G |
2: 36,267,322 (GRCm39) |
D178G |
probably damaging |
Het |
| Or5a21 |
C |
T |
19: 12,311,008 (GRCm39) |
D71N |
probably damaging |
Het |
| Or5l13 |
A |
T |
2: 87,780,145 (GRCm39) |
|
probably null |
Het |
| Pogz |
A |
G |
3: 94,763,428 (GRCm39) |
T67A |
possibly damaging |
Het |
| Prep |
T |
A |
10: 44,948,225 (GRCm39) |
|
probably null |
Het |
| Prf1 |
A |
G |
10: 61,138,807 (GRCm39) |
D255G |
probably damaging |
Het |
| Psme2 |
A |
G |
14: 55,827,539 (GRCm39) |
L24P |
probably damaging |
Het |
| Scmh1 |
T |
A |
4: 120,362,712 (GRCm39) |
|
probably null |
Het |
| Scpep1 |
A |
G |
11: 88,820,139 (GRCm39) |
V383A |
possibly damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,073,775 (GRCm39) |
N279I |
probably benign |
Het |
| Sphkap |
T |
C |
1: 83,245,126 (GRCm39) |
S1498G |
probably benign |
Het |
| Spinkl |
C |
A |
18: 44,301,206 (GRCm39) |
S44I |
probably damaging |
Het |
| Tanc2 |
G |
A |
11: 105,758,543 (GRCm39) |
R768Q |
probably damaging |
Het |
| Tle5 |
T |
C |
10: 81,397,098 (GRCm39) |
S25P |
probably damaging |
Het |
| Tmem213 |
A |
G |
6: 38,086,386 (GRCm39) |
Q14R |
probably benign |
Het |
| Tns1 |
A |
T |
1: 73,967,256 (GRCm39) |
Y1172* |
probably null |
Het |
| Ugt2b37 |
A |
C |
5: 87,402,036 (GRCm39) |
I198M |
probably benign |
Het |
| Usp17lb |
A |
C |
7: 104,489,552 (GRCm39) |
I457M |
probably damaging |
Het |
| Usp6nl |
G |
T |
2: 6,446,150 (GRCm39) |
R709L |
probably damaging |
Het |
| Zer1 |
A |
G |
2: 29,995,009 (GRCm39) |
L462P |
probably damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,311,462 (GRCm39) |
S411P |
probably benign |
Het |
|
| Other mutations in Bnc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01593:Bnc2
|
APN |
4 |
84,194,478 (GRCm39) |
splice site |
probably null |
|
|
IGL01902:Bnc2
|
APN |
4 |
84,309,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02228:Bnc2
|
APN |
4 |
84,211,313 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02396:Bnc2
|
APN |
4 |
84,194,246 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0125:Bnc2
|
UTSW |
4 |
84,211,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0650:Bnc2
|
UTSW |
4 |
84,211,433 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1082:Bnc2
|
UTSW |
4 |
84,464,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1334:Bnc2
|
UTSW |
4 |
84,194,526 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1439:Bnc2
|
UTSW |
4 |
84,194,305 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1447:Bnc2
|
UTSW |
4 |
84,211,457 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1515:Bnc2
|
UTSW |
4 |
84,332,563 (GRCm39) |
missense |
probably null |
0.99 |
|
R1548:Bnc2
|
UTSW |
4 |
84,194,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1818:Bnc2
|
UTSW |
4 |
84,210,111 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1819:Bnc2
|
UTSW |
4 |
84,210,111 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2345:Bnc2
|
UTSW |
4 |
84,210,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2897:Bnc2
|
UTSW |
4 |
84,211,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2898:Bnc2
|
UTSW |
4 |
84,211,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2966:Bnc2
|
UTSW |
4 |
84,211,754 (GRCm39) |
missense |
probably benign |
0.14 |
|
R3404:Bnc2
|
UTSW |
4 |
84,464,478 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4235:Bnc2
|
UTSW |
4 |
84,211,751 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4546:Bnc2
|
UTSW |
4 |
84,210,213 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4676:Bnc2
|
UTSW |
4 |
84,211,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4926:Bnc2
|
UTSW |
4 |
84,194,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5060:Bnc2
|
UTSW |
4 |
84,449,872 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5365:Bnc2
|
UTSW |
4 |
84,329,666 (GRCm39) |
intron |
probably benign |
|
|
R5735:Bnc2
|
UTSW |
4 |
84,210,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5872:Bnc2
|
UTSW |
4 |
84,211,007 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5921:Bnc2
|
UTSW |
4 |
84,211,292 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6351:Bnc2
|
UTSW |
4 |
84,211,380 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6869:Bnc2
|
UTSW |
4 |
84,211,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7236:Bnc2
|
UTSW |
4 |
84,474,101 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7363:Bnc2
|
UTSW |
4 |
84,210,308 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7643:Bnc2
|
UTSW |
4 |
84,424,811 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8017:Bnc2
|
UTSW |
4 |
84,329,662 (GRCm39) |
missense |
|
|
|
R8019:Bnc2
|
UTSW |
4 |
84,329,662 (GRCm39) |
missense |
|
|
|
R8050:Bnc2
|
UTSW |
4 |
84,210,573 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8311:Bnc2
|
UTSW |
4 |
84,194,582 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8463:Bnc2
|
UTSW |
4 |
84,211,608 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8676:Bnc2
|
UTSW |
4 |
84,194,550 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8722:Bnc2
|
UTSW |
4 |
84,211,883 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8845:Bnc2
|
UTSW |
4 |
84,194,338 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8887:Bnc2
|
UTSW |
4 |
84,209,707 (GRCm39) |
intron |
probably benign |
|
|
R9051:Bnc2
|
UTSW |
4 |
84,210,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9142:Bnc2
|
UTSW |
4 |
84,474,111 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9165:Bnc2
|
UTSW |
4 |
84,329,731 (GRCm39) |
missense |
|
|
|
R9297:Bnc2
|
UTSW |
4 |
84,474,136 (GRCm39) |
intron |
probably benign |
|
|
R9638:Bnc2
|
UTSW |
4 |
84,332,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Bnc2
|
UTSW |
4 |
84,211,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGAACAAACCTCAATAGGAC -3'
(R):5'- GCCCATCAGTGAACTATTCTGC -3'
Sequencing Primer
(F):5'- CTCAATAGGACAGTCAAACAATGTG -3'
(R):5'- AGTGAACTATTCTGCTATTCCTCAC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation