Incidental Mutation 'IGL02337:Barhl1'
| ID |
288904 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Barhl1
|
| Ensembl Gene |
ENSMUSG00000026805 |
| Gene Name |
BarH like homeobox 1 |
| Synonyms |
MBH2, Dres115 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.337)
|
| Stock # |
IGL02337
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
28797691-28806680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 28801431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 204
(S204R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050776]
[ENSMUST00000113847]
[ENSMUST00000113849]
|
| AlphaFold |
P63157 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050776
AA Change: S204R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053147
Gene: ENSMUSG00000026805
AA Change: S204R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
152 |
N/A |
INTRINSIC |
|
HOX
|
178 |
240 |
4.35e-27 |
SMART |
|
low complexity region
|
309 |
321 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113847
AA Change: S204R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109478
Gene: ENSMUSG00000026805
AA Change: S204R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
152 |
N/A |
INTRINSIC |
|
HOX
|
178 |
240 |
4.35e-27 |
SMART |
|
low complexity region
|
309 |
321 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113849
AA Change: S204R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109480
Gene: ENSMUSG00000026805
AA Change: S204R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
152 |
N/A |
INTRINSIC |
|
HOX
|
178 |
240 |
4.35e-27 |
SMART |
|
low complexity region
|
309 |
321 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124059
|
| SMART Domains |
Protein: ENSMUSP00000134363
Gene: ENSMUSG00000026805
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
95 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174027
|
| SMART Domains |
Protein: ENSMUSP00000134118
Gene: ENSMUSG00000026805
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
1 |
32 |
2.5e-3 |
SMART |
|
low complexity region
|
101 |
113 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in progressive hearing loss starting at 2 weeks of age. Animals are completely deaf by 10 months of age and show degeneration of the inner and outer cochlear hair cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
G |
15: 102,247,662 (GRCm39) |
V403A |
probably benign |
Het |
| Afm |
A |
G |
5: 90,695,770 (GRCm39) |
T426A |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,235,451 (GRCm39) |
D697G |
probably benign |
Het |
| Ceacam11 |
T |
A |
7: 17,707,550 (GRCm39) |
S111R |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,926,037 (GRCm39) |
|
probably benign |
Het |
| Cnot11 |
G |
A |
1: 39,583,964 (GRCm39) |
|
probably benign |
Het |
| Ctc1 |
A |
G |
11: 68,916,957 (GRCm39) |
T284A |
probably damaging |
Het |
| Ephb3 |
A |
G |
16: 21,040,253 (GRCm39) |
|
probably null |
Het |
| Fsip1 |
T |
A |
2: 118,082,195 (GRCm39) |
K80* |
probably null |
Het |
| Gaa |
G |
T |
11: 119,168,429 (GRCm39) |
G220C |
probably damaging |
Het |
| Gna15 |
T |
C |
10: 81,350,244 (GRCm39) |
S53G |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,052,133 (GRCm39) |
M321K |
possibly damaging |
Het |
| Hgfac |
C |
A |
5: 35,199,722 (GRCm39) |
T68K |
probably benign |
Het |
| Hmgxb4 |
C |
T |
8: 75,726,259 (GRCm39) |
R35W |
probably damaging |
Het |
| Itfg2 |
T |
C |
6: 128,390,533 (GRCm39) |
D184G |
probably benign |
Het |
| Kirrel1 |
G |
A |
3: 86,996,519 (GRCm39) |
T360I |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,412,756 (GRCm39) |
Q1240R |
possibly damaging |
Het |
| Lrrk1 |
G |
T |
7: 65,929,164 (GRCm39) |
T1156N |
possibly damaging |
Het |
| Olfm1 |
A |
G |
2: 28,119,697 (GRCm39) |
Y429C |
probably damaging |
Het |
| Or4k77 |
T |
G |
2: 111,199,496 (GRCm39) |
V173G |
probably benign |
Het |
| Or5t5 |
T |
A |
2: 86,616,518 (GRCm39) |
M148K |
probably damaging |
Het |
| Pafah1b2 |
C |
T |
9: 45,884,287 (GRCm39) |
V122I |
probably benign |
Het |
| Pdcd1 |
T |
C |
1: 93,968,582 (GRCm39) |
T151A |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,892,079 (GRCm39) |
S697G |
probably damaging |
Het |
| Rgs12 |
T |
A |
5: 35,177,697 (GRCm39) |
F96I |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,127,672 (GRCm39) |
D176G |
probably benign |
Het |
| Tarbp2 |
C |
A |
15: 102,430,428 (GRCm39) |
Q148K |
probably damaging |
Het |
| Txk |
T |
C |
5: 72,864,889 (GRCm39) |
R329G |
possibly damaging |
Het |
| Unc79 |
T |
A |
12: 103,122,705 (GRCm39) |
|
probably benign |
Het |
| Vmn1r73 |
C |
A |
7: 11,490,640 (GRCm39) |
P153T |
possibly damaging |
Het |
| Zeb2 |
G |
A |
2: 44,887,242 (GRCm39) |
T605I |
probably damaging |
Het |
| Zfp654 |
A |
G |
16: 64,605,512 (GRCm39) |
S897P |
probably benign |
Het |
|
| Other mutations in Barhl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01323:Barhl1
|
APN |
2 |
28,805,558 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03113:Barhl1
|
APN |
2 |
28,805,468 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0449:Barhl1
|
UTSW |
2 |
28,805,304 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1675:Barhl1
|
UTSW |
2 |
28,805,423 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1829:Barhl1
|
UTSW |
2 |
28,799,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3615:Barhl1
|
UTSW |
2 |
28,801,562 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R3616:Barhl1
|
UTSW |
2 |
28,801,562 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4937:Barhl1
|
UTSW |
2 |
28,799,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5481:Barhl1
|
UTSW |
2 |
28,805,352 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6075:Barhl1
|
UTSW |
2 |
28,805,231 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6727:Barhl1
|
UTSW |
2 |
28,805,495 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6728:Barhl1
|
UTSW |
2 |
28,805,495 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7096:Barhl1
|
UTSW |
2 |
28,799,726 (GRCm39) |
missense |
probably benign |
|
|
R7123:Barhl1
|
UTSW |
2 |
28,799,943 (GRCm39) |
splice site |
probably null |
|
|
R7336:Barhl1
|
UTSW |
2 |
28,799,855 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7339:Barhl1
|
UTSW |
2 |
28,799,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7584:Barhl1
|
UTSW |
2 |
28,799,803 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9070:Barhl1
|
UTSW |
2 |
28,805,423 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9087:Barhl1
|
UTSW |
2 |
28,805,231 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0065:Barhl1
|
UTSW |
2 |
28,805,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation