Incidental Mutation 'IGL01944:B9d1'
| ID |
181206 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
B9d1
|
| Ensembl Gene |
ENSMUSG00000001039 |
| Gene Name |
B9 protein domain 1 |
| Synonyms |
Eppb9, B9 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.776)
|
| Stock # |
IGL01944
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
61395970-61403757 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 61403205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 52
(M52L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117524
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001063]
[ENSMUST00000102657]
[ENSMUST00000108711]
[ENSMUST00000108712]
[ENSMUST00000108713]
[ENSMUST00000127889]
[ENSMUST00000178202]
[ENSMUST00000179936]
|
| AlphaFold |
Q9R1S0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001063
|
| SMART Domains |
Protein: ENSMUSP00000001063
Gene: ENSMUSG00000001036
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
18 |
144 |
1.03e-65 |
SMART |
|
UIM
|
218 |
237 |
3.37e-1 |
SMART |
|
UIM
|
255 |
274 |
2.48e1 |
SMART |
|
low complexity region
|
449 |
461 |
N/A |
INTRINSIC |
|
low complexity region
|
493 |
517 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102657
AA Change: M138L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099717
Gene: ENSMUSG00000001039
AA Change: M138L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:B9-C2
|
11 |
174 |
3.4e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108711
|
| SMART Domains |
Protein: ENSMUSP00000104351
Gene: ENSMUSG00000001036
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
18 |
144 |
1.03e-65 |
SMART |
|
UIM
|
218 |
237 |
6.29e-1 |
SMART |
|
UIM
|
243 |
262 |
2.48e1 |
SMART |
|
low complexity region
|
431 |
443 |
N/A |
INTRINSIC |
|
low complexity region
|
475 |
499 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108712
|
| SMART Domains |
Protein: ENSMUSP00000104352
Gene: ENSMUSG00000001036
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
18 |
144 |
1.03e-65 |
SMART |
|
UIM
|
275 |
294 |
6.29e-1 |
SMART |
|
UIM
|
300 |
319 |
2.48e1 |
SMART |
|
low complexity region
|
488 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
532 |
556 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108713
|
| SMART Domains |
Protein: ENSMUSP00000104353
Gene: ENSMUSG00000001036
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
18 |
144 |
1.03e-65 |
SMART |
|
UIM
|
218 |
237 |
6.29e-1 |
SMART |
|
UIM
|
243 |
262 |
2.48e1 |
SMART |
|
low complexity region
|
437 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
505 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127889
AA Change: M52L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000117524
Gene: ENSMUSG00000001039
AA Change: M52L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:B9-C2
|
1 |
89 |
2.6e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138057
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146562
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155176
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140548
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178202
|
| SMART Domains |
Protein: ENSMUSP00000136553
Gene: ENSMUSG00000001036
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
18 |
144 |
1.03e-65 |
SMART |
|
UIM
|
218 |
237 |
3.37e-1 |
SMART |
|
UIM
|
255 |
274 |
2.48e1 |
SMART |
|
low complexity region
|
449 |
461 |
N/A |
INTRINSIC |
|
low complexity region
|
493 |
517 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179936
|
| SMART Domains |
Protein: ENSMUSP00000136950
Gene: ENSMUSG00000001036
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
18 |
144 |
1.03e-65 |
SMART |
|
UIM
|
275 |
294 |
6.29e-1 |
SMART |
|
UIM
|
300 |
319 |
2.48e1 |
SMART |
|
low complexity region
|
494 |
506 |
N/A |
INTRINSIC |
|
low complexity region
|
538 |
562 |
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.] This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a gene trap or knock-out allele exhibit ciliary defects including kidney cysts, cleft palate, dextrocardia, holoprosencephaly, polydactyly, micropthalmia, ventricular septal defects, and thin myocardium. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd11 |
T |
A |
5: 135,040,230 (GRCm39) |
V202D |
probably damaging |
Het |
| Afdn |
A |
G |
17: 14,030,743 (GRCm39) |
N218S |
probably damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,625,208 (GRCm39) |
|
probably null |
Het |
| Atp1a2 |
G |
T |
1: 172,103,754 (GRCm39) |
T959K |
probably damaging |
Het |
| Atp6v0a2 |
A |
G |
5: 124,774,043 (GRCm39) |
E96G |
probably benign |
Het |
| Col6a6 |
T |
A |
9: 105,661,108 (GRCm39) |
I334F |
probably damaging |
Het |
| Drd3 |
T |
C |
16: 43,638,671 (GRCm39) |
F259L |
probably benign |
Het |
| Drosha |
T |
G |
15: 12,889,805 (GRCm39) |
L891R |
probably damaging |
Het |
| Ecpas |
G |
T |
4: 58,861,544 (GRCm39) |
T345K |
probably benign |
Het |
| Garin5b |
T |
C |
7: 4,773,694 (GRCm39) |
N67S |
possibly damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Greb1l |
T |
C |
18: 10,557,280 (GRCm39) |
V1760A |
possibly damaging |
Het |
| Il36b |
T |
A |
2: 24,045,291 (GRCm39) |
W48R |
probably damaging |
Het |
| Ipo9 |
C |
A |
1: 135,333,624 (GRCm39) |
V353F |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,761,064 (GRCm39) |
F126I |
probably damaging |
Het |
| Mmrn1 |
T |
C |
6: 60,948,167 (GRCm39) |
|
probably null |
Het |
| Nup214 |
T |
A |
2: 31,924,971 (GRCm39) |
C328* |
probably null |
Het |
| Or9g19 |
A |
G |
2: 85,600,384 (GRCm39) |
I80V |
probably damaging |
Het |
| Pcdh17 |
G |
T |
14: 84,684,960 (GRCm39) |
V476L |
probably benign |
Het |
| Pcdh17 |
T |
A |
14: 84,684,961 (GRCm39) |
V476E |
probably damaging |
Het |
| Prpf38b |
A |
T |
3: 108,811,991 (GRCm39) |
S291R |
probably benign |
Het |
| Rap1gap |
T |
C |
4: 137,452,931 (GRCm39) |
S601P |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,307,283 (GRCm39) |
Y648H |
probably benign |
Het |
| Slfn3 |
A |
G |
11: 83,103,974 (GRCm39) |
T282A |
possibly damaging |
Het |
| Ttll3 |
C |
T |
6: 113,391,076 (GRCm39) |
T887I |
probably benign |
Het |
| Vmn1r197 |
A |
G |
13: 22,512,508 (GRCm39) |
N143S |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Xpo4 |
T |
C |
14: 57,841,855 (GRCm39) |
I487V |
probably benign |
Het |
|
| Other mutations in B9d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00952:B9d1
|
APN |
11 |
61,403,504 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01878:B9d1
|
APN |
11 |
61,398,449 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4696001:B9d1
|
UTSW |
11 |
61,396,069 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0494:B9d1
|
UTSW |
11 |
61,403,271 (GRCm39) |
unclassified |
probably benign |
|
|
R3793:B9d1
|
UTSW |
11 |
61,398,448 (GRCm39) |
unclassified |
probably benign |
|
|
R4227:B9d1
|
UTSW |
11 |
61,403,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4789:B9d1
|
UTSW |
11 |
61,397,186 (GRCm39) |
missense |
probably benign |
|
|
R4828:B9d1
|
UTSW |
11 |
61,398,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:B9d1
|
UTSW |
11 |
61,398,497 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6526:B9d1
|
UTSW |
11 |
61,399,923 (GRCm39) |
nonsense |
probably null |
|
|
R7841:B9d1
|
UTSW |
11 |
61,397,192 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Z1186:B9d1
|
UTSW |
11 |
61,396,029 (GRCm39) |
unclassified |
probably benign |
|
|
Z1187:B9d1
|
UTSW |
11 |
61,396,029 (GRCm39) |
unclassified |
probably benign |
|
|
Z1188:B9d1
|
UTSW |
11 |
61,396,029 (GRCm39) |
unclassified |
probably benign |
|
|
Z1189:B9d1
|
UTSW |
11 |
61,396,029 (GRCm39) |
unclassified |
probably benign |
|
|
Z1190:B9d1
|
UTSW |
11 |
61,396,029 (GRCm39) |
unclassified |
probably benign |
|
|
Z1191:B9d1
|
UTSW |
11 |
61,396,029 (GRCm39) |
unclassified |
probably benign |
|
|
Z1192:B9d1
|
UTSW |
11 |
61,396,029 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation