Incidental Mutation 'R4227:B9d1'
| ID |
320098 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B9d1
|
| Ensembl Gene |
ENSMUSG00000001039 |
| Gene Name |
B9 protein domain 1 |
| Synonyms |
Eppb9, B9 |
| MMRRC Submission |
041047-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.776)
|
| Stock # |
R4227 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
61395970-61403757 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 61403483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 160
(R160G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001063]
[ENSMUST00000102657]
[ENSMUST00000108711]
[ENSMUST00000108712]
[ENSMUST00000108713]
[ENSMUST00000127889]
[ENSMUST00000179936]
[ENSMUST00000178202]
|
| 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 damaging
Transcript: ENSMUST00000102657
AA Change: R160G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099717
Gene: ENSMUSG00000001039
AA Change: R160G
| 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 |
possibly damaging
Transcript: ENSMUST00000127889
AA Change: R74G
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117524
Gene: ENSMUSG00000001039
AA Change: R74G
| 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: 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.9088 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (56/58) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,115,120 (GRCm39) |
T609A |
probably damaging |
Het |
| Agbl2 |
T |
G |
2: 90,631,797 (GRCm39) |
L385R |
probably damaging |
Het |
| Arfgef2 |
A |
T |
2: 166,709,244 (GRCm39) |
D1107V |
probably damaging |
Het |
| Arhgef5 |
C |
T |
6: 43,256,432 (GRCm39) |
A1180V |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,926,835 (GRCm39) |
|
probably null |
Het |
| Capn11 |
A |
G |
17: 45,953,392 (GRCm39) |
|
probably null |
Het |
| Ceacam12 |
G |
T |
7: 17,805,678 (GRCm39) |
M288I |
probably benign |
Het |
| Cfhr3 |
T |
A |
1: 139,536,046 (GRCm39) |
|
noncoding transcript |
Het |
| Copa |
A |
G |
1: 171,945,682 (GRCm39) |
|
probably benign |
Het |
| Cypt4 |
A |
G |
9: 24,536,788 (GRCm39) |
M93V |
probably benign |
Het |
| Fat3 |
G |
A |
9: 16,288,989 (GRCm39) |
T178I |
probably damaging |
Het |
| Gm15931 |
A |
G |
7: 4,277,793 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9871 |
A |
G |
6: 101,773,654 (GRCm39) |
|
noncoding transcript |
Het |
| Gpsm1 |
T |
C |
2: 26,229,638 (GRCm39) |
|
probably benign |
Het |
| Grhl1 |
A |
G |
12: 24,661,850 (GRCm39) |
T510A |
probably benign |
Het |
| Kcnn3 |
A |
C |
3: 89,428,482 (GRCm39) |
H236P |
possibly damaging |
Het |
| Kif21b |
T |
A |
1: 136,081,831 (GRCm39) |
|
probably null |
Het |
| Lcn3 |
G |
T |
2: 25,656,123 (GRCm39) |
M59I |
probably benign |
Het |
| Mrps27 |
C |
G |
13: 99,547,848 (GRCm39) |
P253A |
probably damaging |
Het |
| Mug2 |
A |
T |
6: 122,017,691 (GRCm39) |
D476V |
probably benign |
Het |
| Naca |
A |
T |
10: 127,877,530 (GRCm39) |
|
probably benign |
Het |
| Naip5 |
A |
G |
13: 100,349,276 (GRCm39) |
S1351P |
probably damaging |
Het |
| Odf2 |
A |
G |
2: 29,791,296 (GRCm39) |
|
probably benign |
Het |
| Or2a56 |
A |
G |
6: 42,932,648 (GRCm39) |
Y72C |
possibly damaging |
Het |
| Or4g17 |
A |
G |
2: 111,209,410 (GRCm39) |
K22E |
probably benign |
Het |
| Or52ab7 |
A |
T |
7: 102,978,026 (GRCm39) |
H111L |
probably damaging |
Het |
| Or5w18 |
T |
A |
2: 87,633,219 (GRCm39) |
I162N |
probably damaging |
Het |
| P3h2 |
G |
T |
16: 25,924,203 (GRCm39) |
D77E |
probably benign |
Het |
| Pcbp2 |
A |
G |
15: 102,387,066 (GRCm39) |
M87V |
probably benign |
Het |
| Plekhg6 |
A |
G |
6: 125,355,768 (GRCm39) |
L12P |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,874,223 (GRCm39) |
T503A |
probably benign |
Het |
| Pnpla3 |
C |
A |
15: 84,063,391 (GRCm39) |
N256K |
probably benign |
Het |
| Polh |
A |
G |
17: 46,483,520 (GRCm39) |
S582P |
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,138,130 (GRCm39) |
Y345H |
possibly damaging |
Het |
| Rasl11b |
T |
A |
5: 74,358,852 (GRCm39) |
I119N |
probably damaging |
Het |
| Rnaseh2a |
G |
A |
8: 85,686,702 (GRCm39) |
T149I |
possibly damaging |
Het |
| Serpina10 |
A |
G |
12: 103,594,674 (GRCm39) |
Y182H |
probably damaging |
Het |
| Serpina1d |
A |
G |
12: 103,733,740 (GRCm39) |
V188A |
probably benign |
Het |
| Setd1a |
C |
A |
7: 127,395,819 (GRCm39) |
|
probably benign |
Het |
| Slc17a8 |
T |
C |
10: 89,434,575 (GRCm39) |
N184S |
probably damaging |
Het |
| Spen |
C |
T |
4: 141,249,458 (GRCm39) |
S110N |
unknown |
Het |
| Tas1r1 |
T |
C |
4: 152,112,729 (GRCm39) |
I775V |
probably damaging |
Het |
| Tktl2 |
A |
G |
8: 66,966,351 (GRCm39) |
|
probably null |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tmprss6 |
C |
T |
15: 78,330,899 (GRCm39) |
V43M |
probably damaging |
Het |
| Try5 |
A |
G |
6: 41,290,401 (GRCm39) |
Y28H |
possibly damaging |
Het |
| Urad |
A |
T |
5: 147,252,100 (GRCm39) |
F117L |
probably damaging |
Het |
| Vegfc |
A |
G |
8: 54,612,445 (GRCm39) |
Y156C |
probably damaging |
Het |
| Vmn2r45 |
A |
T |
7: 8,486,277 (GRCm39) |
V337E |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,445,369 (GRCm39) |
F696L |
probably damaging |
Het |
| Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
| Zfp131 |
T |
C |
13: 120,228,282 (GRCm39) |
D455G |
probably damaging |
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 |
|
|
IGL01944:B9d1
|
APN |
11 |
61,403,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCAACCGTAACTTGAGGG -3'
(R):5'- AAAACTACCTTTAGCTCCCCTG -3'
Sequencing Primer
(F):5'- ACCGTAACTTGAGGGTTGAG -3'
(R):5'- CTGTAGGGCATCTGGTCCACAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation