Incidental Mutation 'IGL03365:Xirp1'
| ID |
420061 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Xirp1
|
| Ensembl Gene |
ENSMUSG00000079243 |
| Gene Name |
xin actin-binding repeat containing 1 |
| Synonyms |
Cmya1, Xin, mXin alpha |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.460)
|
| Stock # |
IGL03365
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
119842821-119852660 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 119847605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Tryptophan
at position 426
(L426W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111635]
[ENSMUST00000177637]
[ENSMUST00000213113]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111635
AA Change: L426W
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107262
Gene: ENSMUSG00000079243
AA Change: L426W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
81 |
N/A |
INTRINSIC |
|
Pfam:Xin
|
89 |
104 |
1.7e-9 |
PFAM |
|
Pfam:Xin
|
151 |
166 |
2.1e-9 |
PFAM |
|
Pfam:Xin
|
186 |
201 |
1.6e-9 |
PFAM |
|
Pfam:Xin
|
266 |
279 |
4.8e-9 |
PFAM |
|
Pfam:Xin
|
303 |
317 |
1.1e-10 |
PFAM |
|
Pfam:Xin
|
341 |
355 |
5.6e-8 |
PFAM |
|
Pfam:Xin
|
376 |
391 |
6.7e-11 |
PFAM |
|
Pfam:Xin
|
511 |
526 |
1.5e-12 |
PFAM |
|
Pfam:Xin
|
549 |
563 |
2.6e-11 |
PFAM |
|
Pfam:Xin
|
593 |
607 |
5.2e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177637
|
| SMART Domains |
Protein: ENSMUSP00000136413
Gene: ENSMUSG00000052336
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
49 |
294 |
3.5e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213113
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mice exhibit cardiac hypertrophy and a disruption of cardiac intercalated disc structure and myofilament abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500035N22Rik |
T |
G |
5: 25,202,809 (GRCm39) |
|
probably benign |
Het |
| Adam6a |
T |
A |
12: 113,507,765 (GRCm39) |
I46N |
possibly damaging |
Het |
| Adipor1 |
A |
G |
1: 134,359,380 (GRCm39) |
D371G |
possibly damaging |
Het |
| Akr1c21 |
C |
T |
13: 4,633,851 (GRCm39) |
P307S |
probably benign |
Het |
| Aoc1l3 |
A |
G |
6: 48,965,531 (GRCm39) |
D513G |
probably damaging |
Het |
| Asxl1 |
T |
A |
2: 153,243,674 (GRCm39) |
I1408N |
probably damaging |
Het |
| Avil |
T |
C |
10: 126,846,852 (GRCm39) |
V472A |
probably damaging |
Het |
| Bpifa6 |
C |
A |
2: 153,831,204 (GRCm39) |
Q257K |
possibly damaging |
Het |
| Cacna2d4 |
G |
T |
6: 119,248,225 (GRCm39) |
V380L |
probably benign |
Het |
| Clip1 |
A |
C |
5: 123,721,649 (GRCm39) |
S1111A |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,725,663 (GRCm39) |
|
probably null |
Het |
| Dock8 |
C |
T |
19: 25,077,048 (GRCm39) |
P506L |
possibly damaging |
Het |
| Ecsit |
A |
C |
9: 21,987,822 (GRCm39) |
H72Q |
probably damaging |
Het |
| Eif1b |
T |
A |
9: 120,323,186 (GRCm39) |
D15E |
probably benign |
Het |
| Enpp1 |
A |
G |
10: 24,544,923 (GRCm39) |
Y319H |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,907,765 (GRCm39) |
N2746D |
probably damaging |
Het |
| Fgf20 |
G |
T |
8: 40,732,932 (GRCm39) |
L115I |
possibly damaging |
Het |
| Hip1r |
C |
T |
5: 124,138,230 (GRCm39) |
R775W |
probably damaging |
Het |
| Hycc1 |
A |
T |
5: 24,188,158 (GRCm39) |
Y245N |
probably benign |
Het |
| Lrp12 |
A |
T |
15: 39,735,917 (GRCm39) |
S672T |
probably benign |
Het |
| Morf4l2 |
A |
G |
X: 135,634,464 (GRCm39) |
Y255H |
probably benign |
Het |
| Mri1 |
A |
G |
8: 84,978,262 (GRCm39) |
V343A |
possibly damaging |
Het |
| Mybphl |
T |
A |
3: 108,272,314 (GRCm39) |
M1K |
probably null |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Ofd1 |
C |
A |
X: 165,175,512 (GRCm39) |
V951F |
probably damaging |
Het |
| Or4k51 |
G |
T |
2: 111,584,772 (GRCm39) |
M59I |
possibly damaging |
Het |
| Or51r1 |
G |
T |
7: 102,227,836 (GRCm39) |
V45F |
probably benign |
Het |
| Or6c208 |
T |
A |
10: 129,224,108 (GRCm39) |
V202D |
possibly damaging |
Het |
| Parp12 |
G |
A |
6: 39,079,581 (GRCm39) |
R310W |
probably damaging |
Het |
| Pcdh11x |
T |
A |
X: 119,425,935 (GRCm39) |
D1019E |
probably benign |
Het |
| Ppp1r9a |
T |
A |
6: 5,110,993 (GRCm39) |
|
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,030,581 (GRCm39) |
|
probably benign |
Het |
| Qser1 |
T |
A |
2: 104,617,344 (GRCm39) |
N1156I |
probably damaging |
Het |
| Rgs3 |
T |
A |
4: 62,607,912 (GRCm39) |
D59E |
probably benign |
Het |
| Rims2 |
T |
C |
15: 39,339,937 (GRCm39) |
F917S |
probably damaging |
Het |
| Sap30bp |
G |
A |
11: 115,855,078 (GRCm39) |
V263M |
possibly damaging |
Het |
| Scart2 |
T |
A |
7: 139,876,682 (GRCm39) |
V691E |
probably damaging |
Het |
| Scfd2 |
G |
T |
5: 74,691,596 (GRCm39) |
H229N |
possibly damaging |
Het |
| Sspo |
T |
C |
6: 48,436,349 (GRCm39) |
V1233A |
possibly damaging |
Het |
| Stam |
T |
A |
2: 14,151,201 (GRCm39) |
Y519* |
probably null |
Het |
| Synj2 |
A |
G |
17: 6,069,679 (GRCm39) |
T602A |
probably damaging |
Het |
| Tas2r126 |
C |
T |
6: 42,412,391 (GRCm39) |
A308V |
probably benign |
Het |
| Tm4sf20 |
T |
C |
1: 82,745,948 (GRCm39) |
|
probably benign |
Het |
| Ttc23 |
G |
A |
7: 67,312,085 (GRCm39) |
|
probably benign |
Het |
| Vmn1r90 |
T |
C |
7: 14,295,229 (GRCm39) |
I290V |
probably damaging |
Het |
| Zgrf1 |
T |
G |
3: 127,392,423 (GRCm39) |
F430L |
possibly damaging |
Het |
|
| Other mutations in Xirp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01814:Xirp1
|
APN |
9 |
119,846,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02105:Xirp1
|
APN |
9 |
119,846,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
busybody
|
UTSW |
9 |
119,848,819 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Buzzer
|
UTSW |
9 |
119,847,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
cornflower
|
UTSW |
9 |
119,848,881 (GRCm39) |
start codon destroyed |
probably null |
0.89 |
|
R0006:Xirp1
|
UTSW |
9 |
119,846,520 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0320:Xirp1
|
UTSW |
9 |
119,845,533 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0881:Xirp1
|
UTSW |
9 |
119,847,483 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1220:Xirp1
|
UTSW |
9 |
119,846,982 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1707:Xirp1
|
UTSW |
9 |
119,847,841 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1783:Xirp1
|
UTSW |
9 |
120,016,907 (GRCm38) |
missense |
probably benign |
|
|
R1785:Xirp1
|
UTSW |
9 |
120,016,907 (GRCm38) |
missense |
probably benign |
|
|
R1978:Xirp1
|
UTSW |
9 |
119,847,657 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1983:Xirp1
|
UTSW |
9 |
119,845,695 (GRCm39) |
nonsense |
probably null |
|
|
R2064:Xirp1
|
UTSW |
9 |
119,845,962 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2860:Xirp1
|
UTSW |
9 |
119,848,881 (GRCm39) |
start codon destroyed |
probably null |
0.89 |
|
R2860:Xirp1
|
UTSW |
9 |
119,847,444 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2861:Xirp1
|
UTSW |
9 |
119,847,444 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2861:Xirp1
|
UTSW |
9 |
119,848,881 (GRCm39) |
start codon destroyed |
probably null |
0.89 |
|
R2919:Xirp1
|
UTSW |
9 |
119,847,767 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3013:Xirp1
|
UTSW |
9 |
119,848,851 (GRCm39) |
missense |
probably benign |
|
|
R3704:Xirp1
|
UTSW |
9 |
120,016,907 (GRCm38) |
missense |
probably benign |
0.04 |
|
R3898:Xirp1
|
UTSW |
9 |
119,848,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3981:Xirp1
|
UTSW |
9 |
119,846,810 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4609:Xirp1
|
UTSW |
9 |
119,845,572 (GRCm39) |
missense |
probably benign |
|
|
R4613:Xirp1
|
UTSW |
9 |
119,848,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4660:Xirp1
|
UTSW |
9 |
119,846,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4703:Xirp1
|
UTSW |
9 |
119,846,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Xirp1
|
UTSW |
9 |
119,846,069 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4993:Xirp1
|
UTSW |
9 |
119,847,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5297:Xirp1
|
UTSW |
9 |
119,848,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5939:Xirp1
|
UTSW |
9 |
119,847,575 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6091:Xirp1
|
UTSW |
9 |
119,847,029 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6290:Xirp1
|
UTSW |
9 |
119,847,791 (GRCm39) |
missense |
probably benign |
|
|
R6376:Xirp1
|
UTSW |
9 |
119,847,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6515:Xirp1
|
UTSW |
9 |
119,845,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6616:Xirp1
|
UTSW |
9 |
119,848,080 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6976:Xirp1
|
UTSW |
9 |
119,846,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7165:Xirp1
|
UTSW |
9 |
119,848,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7471:Xirp1
|
UTSW |
9 |
119,848,176 (GRCm39) |
nonsense |
probably null |
|
|
R7744:Xirp1
|
UTSW |
9 |
119,845,912 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7847:Xirp1
|
UTSW |
9 |
119,848,819 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8010:Xirp1
|
UTSW |
9 |
119,846,890 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8371:Xirp1
|
UTSW |
9 |
119,848,499 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8868:Xirp1
|
UTSW |
9 |
119,846,871 (GRCm39) |
missense |
probably benign |
|
|
R9165:Xirp1
|
UTSW |
9 |
119,847,302 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9342:Xirp1
|
UTSW |
9 |
119,845,950 (GRCm39) |
missense |
probably benign |
|
|
R9440:Xirp1
|
UTSW |
9 |
119,847,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9527:Xirp1
|
UTSW |
9 |
119,847,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9605:Xirp1
|
UTSW |
9 |
119,847,274 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9629:Xirp1
|
UTSW |
9 |
119,846,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
V8831:Xirp1
|
UTSW |
9 |
120,016,907 (GRCm38) |
missense |
probably benign |
|
|
X0025:Xirp1
|
UTSW |
9 |
119,848,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Xirp1
|
UTSW |
9 |
120,016,907 (GRCm38) |
missense |
probably benign |
|
|
Z1176:Xirp1
|
UTSW |
9 |
120,016,907 (GRCm38) |
missense |
probably benign |
|
|
Z1176:Xirp1
|
UTSW |
9 |
119,845,946 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Xirp1
|
UTSW |
9 |
119,846,220 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Xirp1
|
UTSW |
9 |
120,016,907 (GRCm38) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation