Incidental Mutation 'R2860:Xirp1'
ID |
252842 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xirp1
|
Ensembl Gene |
ENSMUSG00000079243 |
Gene Name |
xin actin-binding repeat containing 1 |
Synonyms |
Cmya1, Xin, mXin alpha |
MMRRC Submission |
040450-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.418)
|
Stock # |
R2860 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
119842821-119852660 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 119847444 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 41
(S41P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149083
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111635]
[ENSMUST00000177637]
[ENSMUST00000213113]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111635
AA Change: S480P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000107262 Gene: ENSMUSG00000079243 AA Change: S480P
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
AA Change: S41P
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
Validation Efficiency |
100% (44/44) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,259,057 (GRCm39) |
S2928G |
probably damaging |
Het |
Abcc9 |
C |
T |
6: 142,571,736 (GRCm39) |
V1131M |
probably benign |
Het |
Abcd1 |
T |
A |
X: 72,781,064 (GRCm39) |
L713H |
probably damaging |
Het |
Actg1 |
T |
C |
11: 120,237,627 (GRCm39) |
I52V |
probably benign |
Het |
Ang |
G |
T |
14: 51,339,275 (GRCm39) |
D139Y |
probably damaging |
Het |
Ano1 |
C |
T |
7: 144,143,749 (GRCm39) |
G1011E |
probably damaging |
Het |
Apoe |
T |
C |
7: 19,431,479 (GRCm39) |
Y46C |
probably damaging |
Het |
Ash1l |
T |
C |
3: 88,961,785 (GRCm39) |
W2386R |
probably damaging |
Het |
Asph |
T |
C |
4: 9,598,277 (GRCm39) |
D250G |
probably damaging |
Het |
Atr |
A |
G |
9: 95,756,296 (GRCm39) |
N836S |
probably benign |
Het |
Bltp1 |
G |
A |
3: 37,019,998 (GRCm39) |
S2079N |
probably damaging |
Het |
Btg3 |
A |
G |
16: 78,161,868 (GRCm39) |
V114A |
probably damaging |
Het |
C2 |
T |
C |
17: 35,082,854 (GRCm39) |
T471A |
possibly damaging |
Het |
C4b |
T |
A |
17: 34,953,732 (GRCm39) |
S959C |
probably damaging |
Het |
Cap1 |
A |
T |
4: 122,758,518 (GRCm39) |
S221T |
probably benign |
Het |
Capn2 |
A |
T |
1: 182,300,485 (GRCm39) |
|
probably benign |
Het |
Cd38 |
A |
G |
5: 44,058,775 (GRCm39) |
S130G |
probably damaging |
Het |
Cd8b1 |
A |
G |
6: 71,311,085 (GRCm39) |
R202G |
probably damaging |
Het |
Col22a1 |
A |
G |
15: 71,687,792 (GRCm39) |
|
probably null |
Het |
Cps1 |
A |
T |
1: 67,205,534 (GRCm39) |
E519V |
probably benign |
Het |
Cyp2c38 |
G |
A |
19: 39,449,138 (GRCm39) |
R72W |
probably benign |
Het |
Cyp3a16 |
A |
T |
5: 145,392,309 (GRCm39) |
Y215* |
probably null |
Het |
Dennd10 |
T |
C |
19: 60,803,232 (GRCm39) |
S80P |
probably benign |
Het |
F5 |
A |
T |
1: 164,012,533 (GRCm39) |
K482N |
probably damaging |
Het |
Gab1 |
T |
C |
8: 81,511,382 (GRCm39) |
M488V |
probably benign |
Het |
Gabpb1 |
A |
G |
2: 126,495,494 (GRCm39) |
I86T |
probably damaging |
Het |
Gbx2 |
C |
T |
1: 89,856,853 (GRCm39) |
R179Q |
probably damaging |
Het |
Gm11938 |
C |
A |
11: 99,493,972 (GRCm39) |
R41L |
probably damaging |
Het |
Gpn1 |
A |
G |
5: 31,654,664 (GRCm39) |
D72G |
probably damaging |
Het |
Greb1 |
A |
G |
12: 16,761,746 (GRCm39) |
S545P |
probably benign |
Het |
Hsd3b7 |
T |
G |
7: 127,401,442 (GRCm39) |
L189R |
probably damaging |
Het |
Iglc1 |
T |
C |
16: 18,880,660 (GRCm39) |
|
probably benign |
Het |
Il18r1 |
T |
C |
1: 40,537,717 (GRCm39) |
V494A |
possibly damaging |
Het |
Inka1 |
T |
C |
9: 107,861,603 (GRCm39) |
T238A |
probably benign |
Het |
Itsn2 |
C |
A |
12: 4,750,315 (GRCm39) |
|
probably benign |
Het |
Kcnn1 |
T |
C |
8: 71,299,179 (GRCm39) |
K487R |
probably benign |
Het |
Kdf1 |
G |
A |
4: 133,255,852 (GRCm39) |
E190K |
probably damaging |
Het |
Lama3 |
G |
T |
18: 12,586,807 (GRCm39) |
L723F |
probably damaging |
Het |
Lama5 |
T |
C |
2: 179,829,040 (GRCm39) |
T2034A |
probably benign |
Het |
Maged1 |
G |
A |
X: 93,582,530 (GRCm39) |
P366S |
probably damaging |
Het |
Med14 |
A |
G |
X: 12,585,936 (GRCm39) |
I521T |
probably benign |
Het |
Mia2 |
A |
G |
12: 59,201,196 (GRCm39) |
K841E |
probably damaging |
Het |
Mrgbp |
G |
A |
2: 180,225,203 (GRCm39) |
R53Q |
possibly damaging |
Het |
Nmnat2 |
G |
A |
1: 152,988,171 (GRCm39) |
V267I |
probably benign |
Het |
Opn4 |
A |
G |
14: 34,315,785 (GRCm39) |
|
probably null |
Het |
Or2d2b |
T |
A |
7: 106,705,675 (GRCm39) |
H131L |
probably benign |
Het |
Or4f56 |
G |
T |
2: 111,703,818 (GRCm39) |
C127* |
probably null |
Het |
Or5p66 |
A |
G |
7: 107,886,169 (GRCm39) |
S55P |
probably damaging |
Het |
Or6k6 |
A |
G |
1: 173,945,298 (GRCm39) |
Y95H |
probably damaging |
Het |
Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
Parp16 |
G |
T |
9: 65,141,086 (GRCm39) |
D219Y |
probably damaging |
Het |
Pitpnm2 |
G |
C |
5: 124,259,500 (GRCm39) |
H1224Q |
probably damaging |
Het |
Pkd1 |
C |
T |
17: 24,784,420 (GRCm39) |
T322I |
probably benign |
Het |
Pkhd1l1 |
A |
C |
15: 44,404,267 (GRCm39) |
T2299P |
probably damaging |
Het |
Plin4 |
T |
C |
17: 56,413,668 (GRCm39) |
D319G |
probably damaging |
Het |
Ppp6r3 |
A |
C |
19: 3,571,782 (GRCm39) |
S122R |
possibly damaging |
Het |
Pum3 |
A |
T |
19: 27,397,525 (GRCm39) |
|
probably benign |
Het |
Pwwp3b |
G |
A |
X: 138,137,429 (GRCm39) |
G656S |
possibly damaging |
Het |
Rims1 |
A |
T |
1: 22,503,227 (GRCm39) |
F653I |
probably benign |
Het |
Rnf113a1 |
A |
G |
X: 36,455,736 (GRCm39) |
E231G |
probably damaging |
Het |
Rnf41 |
T |
C |
10: 128,274,023 (GRCm39) |
L225P |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,607,979 (GRCm39) |
E876G |
probably damaging |
Het |
Slc25a10 |
G |
A |
11: 120,386,003 (GRCm39) |
V115M |
probably damaging |
Het |
Snx13 |
T |
A |
12: 35,188,116 (GRCm39) |
I798N |
probably benign |
Het |
Sri |
A |
T |
5: 8,117,540 (GRCm39) |
Q178L |
probably benign |
Het |
Tex14 |
T |
G |
11: 87,365,243 (GRCm39) |
D62E |
probably damaging |
Het |
Tshz1 |
G |
T |
18: 84,033,105 (GRCm39) |
H434Q |
probably damaging |
Het |
Vegfd |
A |
G |
X: 163,168,879 (GRCm39) |
E57G |
probably damaging |
Het |
Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
Vmn2r59 |
A |
G |
7: 41,696,427 (GRCm39) |
I105T |
possibly damaging |
Het |
Vmn2r6 |
G |
T |
3: 64,454,760 (GRCm39) |
T513N |
probably benign |
Het |
Vmn2r72 |
A |
T |
7: 85,400,044 (GRCm39) |
I335N |
probably damaging |
Het |
Wiz |
G |
T |
17: 32,580,680 (GRCm39) |
T257K |
probably 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 |
IGL03365:Xirp1
|
APN |
9 |
119,847,605 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTCAAAGAGCCACCGAGTG -3'
(R):5'- GTCTACCCAGTAATGGTACTTCGG -3'
Sequencing Primer
(F):5'- GTGATACCTCGTACCACATCGATGG -3'
(R):5'- ACCCAGTAATGGTACTTCGGTGTTG -3'
|
Posted On |
2014-12-04 |