Incidental Mutation 'R9638:Bnc2'
ID |
725816 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bnc2
|
Ensembl Gene |
ENSMUSG00000028487 |
Gene Name |
basonuclin zinc finger protein 2 |
Synonyms |
8430420F16Rik, 5031434M05Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9638 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
84193332-84593512 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 84332492 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 75
(V75M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135375
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102820]
[ENSMUST00000107198]
[ENSMUST00000175756]
[ENSMUST00000175800]
[ENSMUST00000175969]
[ENSMUST00000176346]
[ENSMUST00000176691]
[ENSMUST00000176418]
[ENSMUST00000176612]
[ENSMUST00000176947]
|
AlphaFold |
Q8BMQ3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102820
AA Change: V170M
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000099884 Gene: ENSMUSG00000028487 AA Change: V170M
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: V142M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102816 Gene: ENSMUSG00000028487 AA Change: V142M
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 |
probably damaging
Transcript: ENSMUST00000175756
AA Change: V61M
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000175800
AA Change: V64M
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000134795 Gene: ENSMUSG00000028487 AA Change: V64M
Domain | Start | End | E-Value | Type |
low complexity region
|
256 |
272 |
N/A |
INTRINSIC |
low complexity region
|
283 |
294 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000175969
AA Change: V81M
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
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: ENSMUST00000176691
AA Change: V75M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135375 Gene: ENSMUSG00000028487 AA Change: V75M
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 |
|
SMART Domains |
Protein: ENSMUSP00000135569 Gene: ENSMUSG00000028487 AA Change: V175M
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 damaging
Transcript: ENSMUST00000176612
AA Change: V100M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135778 Gene: ENSMUSG00000028487 AA Change: V100M
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: ENSMUST00000176947
AA Change: V128M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
T |
G |
4: 53,092,806 (GRCm39) |
E326A |
probably damaging |
Het |
Aldh1a1 |
T |
A |
19: 20,614,100 (GRCm39) |
N423K |
probably benign |
Het |
Aldh4a1 |
T |
A |
4: 139,371,427 (GRCm39) |
I447N |
probably damaging |
Het |
Atg9b |
T |
C |
5: 24,596,406 (GRCm39) |
D170G |
possibly damaging |
Het |
Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
Ccdc162 |
C |
A |
10: 41,437,159 (GRCm39) |
C1750F |
probably benign |
Het |
Cdh10 |
T |
A |
15: 18,964,301 (GRCm39) |
N154K |
probably damaging |
Het |
Cdh22 |
T |
C |
2: 164,988,687 (GRCm39) |
I223V |
probably damaging |
Het |
Ces1b |
T |
A |
8: 93,806,534 (GRCm39) |
H4L |
probably benign |
Het |
Cfap46 |
A |
T |
7: 139,209,763 (GRCm39) |
F1806I |
unknown |
Het |
Cwh43 |
T |
A |
5: 73,565,486 (GRCm39) |
V17D |
possibly damaging |
Het |
Ddx3y |
C |
T |
Y: 1,263,599 (GRCm39) |
G623D |
probably benign |
Het |
Dtna |
A |
T |
18: 23,744,122 (GRCm39) |
I389L |
probably benign |
Het |
F830016B08Rik |
A |
G |
18: 60,432,956 (GRCm39) |
D13G |
probably benign |
Het |
Fam161b |
T |
C |
12: 84,403,187 (GRCm39) |
I148V |
probably benign |
Het |
Fhip1a |
T |
A |
3: 85,568,391 (GRCm39) |
N1043Y |
probably damaging |
Het |
Fli1 |
T |
C |
9: 32,388,020 (GRCm39) |
Y23C |
probably damaging |
Het |
Gimap6 |
A |
G |
6: 48,679,424 (GRCm39) |
V204A |
probably benign |
Het |
Ighv4-1 |
T |
G |
12: 113,911,904 (GRCm39) |
R116S |
probably damaging |
Het |
Isx |
T |
C |
8: 75,619,566 (GRCm39) |
L239P |
probably damaging |
Het |
Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
Krt81 |
T |
C |
15: 101,358,856 (GRCm39) |
T299A |
probably benign |
Het |
Lrrc30 |
A |
G |
17: 67,939,226 (GRCm39) |
L118P |
probably damaging |
Het |
Mapk8ip3 |
T |
C |
17: 25,118,023 (GRCm39) |
T1290A |
probably benign |
Het |
Mef2b |
ACCCTCACCC |
ACC |
8: 70,619,506 (GRCm39) |
|
probably null |
Het |
Meltf |
G |
A |
16: 31,706,409 (GRCm39) |
E298K |
possibly damaging |
Het |
Muc16 |
T |
A |
9: 18,550,626 (GRCm39) |
E5222D |
probably benign |
Het |
Nin |
T |
C |
12: 70,067,618 (GRCm39) |
N2003S |
|
Het |
Or1e23 |
A |
G |
11: 73,407,875 (GRCm39) |
I50T |
probably benign |
Het |
Or2b4 |
G |
A |
17: 38,116,509 (GRCm39) |
V158M |
probably damaging |
Het |
Or51f1d |
T |
C |
7: 102,701,018 (GRCm39) |
L171P |
probably damaging |
Het |
Palld |
A |
G |
8: 62,002,788 (GRCm39) |
V826A |
unknown |
Het |
Paxbp1 |
C |
A |
16: 90,831,881 (GRCm39) |
V336L |
probably benign |
Het |
Paxbp1 |
T |
A |
16: 90,831,882 (GRCm39) |
E335D |
probably benign |
Het |
Por |
C |
A |
5: 135,754,615 (GRCm39) |
Q12K |
unknown |
Het |
Pot1a |
G |
A |
6: 25,750,106 (GRCm39) |
Q519* |
probably null |
Het |
Psd |
GCC |
GC |
19: 46,301,841 (GRCm39) |
|
probably null |
Het |
Ptger4 |
A |
G |
15: 5,264,693 (GRCm39) |
F321S |
probably damaging |
Het |
Ptk7 |
A |
G |
17: 46,890,519 (GRCm39) |
Y438H |
possibly damaging |
Het |
Rimklb |
A |
T |
6: 122,433,558 (GRCm39) |
N254K |
probably benign |
Het |
Rpn2 |
A |
T |
2: 157,125,566 (GRCm39) |
T26S |
probably benign |
Het |
Rtn4rl2 |
A |
T |
2: 84,710,760 (GRCm39) |
L168H |
probably damaging |
Het |
Scel |
G |
T |
14: 103,779,409 (GRCm39) |
A127S |
possibly damaging |
Het |
Sema4a |
T |
A |
3: 88,357,066 (GRCm39) |
N302Y |
probably damaging |
Het |
Supt3 |
A |
G |
17: 45,234,133 (GRCm39) |
T50A |
possibly damaging |
Het |
Upf3a |
G |
A |
8: 13,848,343 (GRCm39) |
A380T |
probably benign |
Het |
Zbtb14 |
G |
A |
17: 69,695,375 (GRCm39) |
E358K |
probably damaging |
Het |
Zfp677 |
A |
T |
17: 21,618,056 (GRCm39) |
H371L |
probably damaging |
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 |
R5999:Bnc2
|
UTSW |
4 |
84,474,137 (GRCm39) |
missense |
probably benign |
0.20 |
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 |
|
X0021:Bnc2
|
UTSW |
4 |
84,211,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTGAGAGCTGCAGGATGAATG -3'
(R):5'- AACAGTAGGTGTGGGCACTG -3'
Sequencing Primer
(F):5'- TACTTGTAGCACCGATGACCG -3'
(R):5'- GTGGGCACTGTTTACTGAAAAG -3'
|
Posted On |
2022-09-12 |