Incidental Mutation 'R6618:Barx2'
| ID |
524212 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Barx2
|
| Ensembl Gene |
ENSMUSG00000032033 |
| Gene Name |
BarH-like homeobox 2 |
| Synonyms |
2310006E12Rik, Barx2b |
| MMRRC Submission |
044741-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.680)
|
| Stock # |
R6618 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
31757340-31824581 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 31758168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 257
(L257F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000116615]
|
| AlphaFold |
O08686 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116615
AA Change: L257F
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000112314
Gene: ENSMUSG00000032033
AA Change: L257F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
103 |
113 |
N/A |
INTRINSIC |
|
HOX
|
137 |
199 |
3.2e-25 |
SMART |
|
low complexity region
|
230 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
268 |
283 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the homeobox transcription factor family. A highly related protein in mouse has been shown to influence cellular processes that control cell adhesion and remodeling of the actin cytoskeleton in myoblast fusion and chondrogenesis. The encoded protein may also play a role in cancer progression. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted gene deletion exhibit short whiskers at birth, defective juvenile hair follicle remodeling, and short adult hair. Fifty percent of homozygotes are born with open eyelids. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp1b2 |
T |
C |
11: 69,494,289 (GRCm39) |
D68G |
probably damaging |
Het |
| Bbx |
C |
G |
16: 50,086,626 (GRCm39) |
W90S |
probably damaging |
Het |
| Bmp1 |
T |
A |
14: 70,728,808 (GRCm39) |
D588V |
probably damaging |
Het |
| Caskin2 |
C |
T |
11: 115,690,855 (GRCm39) |
M1188I |
possibly damaging |
Het |
| Ccdc180 |
T |
A |
4: 45,950,708 (GRCm39) |
I1651N |
probably damaging |
Het |
| Cimip2a |
C |
A |
2: 25,110,635 (GRCm39) |
L148M |
probably benign |
Het |
| Cr2 |
T |
C |
1: 194,839,687 (GRCm39) |
D580G |
probably damaging |
Het |
| Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
| Fam204a |
T |
C |
19: 60,209,069 (GRCm39) |
|
probably null |
Het |
| Fam83h |
T |
C |
15: 75,875,360 (GRCm39) |
D659G |
probably damaging |
Het |
| Garin3 |
A |
G |
11: 46,298,126 (GRCm39) |
T477A |
probably damaging |
Het |
| Hells |
G |
T |
19: 38,945,528 (GRCm39) |
R589L |
probably benign |
Het |
| Helz |
A |
G |
11: 107,489,976 (GRCm39) |
T144A |
probably benign |
Het |
| Il1r1 |
T |
A |
1: 40,339,971 (GRCm39) |
V258D |
probably damaging |
Het |
| Isoc2a |
A |
T |
7: 4,898,325 (GRCm39) |
I183F |
probably benign |
Het |
| Kat2a |
G |
T |
11: 100,603,196 (GRCm39) |
|
probably benign |
Het |
| Klf9 |
A |
G |
19: 23,142,235 (GRCm39) |
M232V |
probably benign |
Het |
| Lars1 |
G |
T |
18: 42,377,973 (GRCm39) |
S147R |
possibly damaging |
Het |
| Mkrn3 |
A |
G |
7: 62,068,781 (GRCm39) |
F337L |
probably benign |
Het |
| Mrc2 |
A |
T |
11: 105,240,708 (GRCm39) |
N1466I |
probably damaging |
Het |
| Myo5c |
G |
A |
9: 75,182,919 (GRCm39) |
|
probably null |
Het |
| Pigs |
T |
C |
11: 78,232,056 (GRCm39) |
L396P |
probably damaging |
Het |
| Prkcb |
G |
A |
7: 122,226,886 (GRCm39) |
R624Q |
probably benign |
Het |
| R3hdm1 |
T |
C |
1: 128,121,302 (GRCm39) |
S269P |
probably benign |
Het |
| Racgap1 |
A |
T |
15: 99,521,875 (GRCm39) |
I505K |
probably damaging |
Het |
| Ralgds |
T |
A |
2: 28,440,523 (GRCm39) |
D777E |
probably benign |
Het |
| Rdh14 |
A |
G |
12: 10,445,123 (GRCm39) |
I325V |
probably benign |
Het |
| Rpn2 |
T |
A |
2: 157,163,781 (GRCm39) |
H624Q |
probably benign |
Het |
| Scarb1 |
C |
T |
5: 125,381,394 (GRCm39) |
S50N |
probably damaging |
Het |
| Shmt1 |
T |
C |
11: 60,683,772 (GRCm39) |
|
probably null |
Het |
| Slc49a3 |
G |
T |
5: 108,590,964 (GRCm39) |
T400K |
probably benign |
Het |
| Smim24 |
A |
G |
10: 81,229,966 (GRCm39) |
N27S |
possibly damaging |
Het |
| Snx13 |
A |
G |
12: 35,162,444 (GRCm39) |
D550G |
probably damaging |
Het |
| Tnfsf18 |
T |
A |
1: 161,322,349 (GRCm39) |
L23* |
probably null |
Het |
| Trpc3 |
T |
A |
3: 36,694,844 (GRCm39) |
K703N |
possibly damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Zfy2 |
A |
G |
Y: 2,121,477 (GRCm39) |
S139P |
probably benign |
Homo |
|
| Other mutations in Barx2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00481:Barx2
|
APN |
9 |
31,758,141 (GRCm39) |
missense |
unknown |
|
|
IGL02045:Barx2
|
APN |
9 |
31,770,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03341:Barx2
|
APN |
9 |
31,770,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1401:Barx2
|
UTSW |
9 |
31,770,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1982:Barx2
|
UTSW |
9 |
31,824,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2436:Barx2
|
UTSW |
9 |
31,824,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4543:Barx2
|
UTSW |
9 |
31,758,092 (GRCm39) |
missense |
unknown |
|
|
R4804:Barx2
|
UTSW |
9 |
31,758,108 (GRCm39) |
missense |
unknown |
|
|
R5399:Barx2
|
UTSW |
9 |
31,765,407 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5436:Barx2
|
UTSW |
9 |
31,824,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5700:Barx2
|
UTSW |
9 |
31,770,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6036:Barx2
|
UTSW |
9 |
31,824,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6036:Barx2
|
UTSW |
9 |
31,824,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6042:Barx2
|
UTSW |
9 |
31,758,199 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6533:Barx2
|
UTSW |
9 |
31,824,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8242:Barx2
|
UTSW |
9 |
31,824,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8307:Barx2
|
UTSW |
9 |
31,770,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8507:Barx2
|
UTSW |
9 |
31,770,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8722:Barx2
|
UTSW |
9 |
31,824,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9089:Barx2
|
UTSW |
9 |
31,765,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9470:Barx2
|
UTSW |
9 |
31,770,044 (GRCm39) |
nonsense |
probably null |
|
|
R9720:Barx2
|
UTSW |
9 |
31,765,407 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1088:Barx2
|
UTSW |
9 |
31,758,162 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTCCGATGAAAATGACGCTG -3'
(R):5'- TCCTTAAAGGTGGACAGGAAGC -3'
Sequencing Primer
(F):5'- ACCCACGTTACTAGTCTTTAGAGG -3'
(R):5'- GTGGACAGGAAGCACCCAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation