Incidental Mutation 'R6976:Xirp1'
ID |
542463 |
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 |
045382-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.418)
|
Stock # |
R6976 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
119842821-119852660 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 119846984 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 633
(M633K)
|
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: M633K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107262 Gene: ENSMUSG00000079243 AA Change: M633K
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
100% (50/50) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss2 |
T |
A |
2: 155,397,929 (GRCm39) |
|
probably null |
Het |
Adamts4 |
G |
T |
1: 171,079,877 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
T |
A |
13: 81,669,116 (GRCm39) |
K2480M |
probably damaging |
Het |
Ankhd1 |
A |
C |
18: 36,781,307 (GRCm39) |
S2120R |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,888,964 (GRCm39) |
V281E |
possibly damaging |
Het |
Bdh1 |
G |
A |
16: 31,256,847 (GRCm39) |
A35T |
probably benign |
Het |
Brpf3 |
A |
G |
17: 29,054,751 (GRCm39) |
M1098V |
probably damaging |
Het |
Cel |
G |
A |
2: 28,446,854 (GRCm39) |
S439F |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 118,162,378 (GRCm39) |
S64G |
probably benign |
Het |
Dpp7 |
T |
C |
2: 25,244,836 (GRCm39) |
|
probably null |
Het |
Fam83c |
T |
A |
2: 155,672,157 (GRCm39) |
Y426F |
possibly damaging |
Het |
Fasn |
A |
G |
11: 120,710,693 (GRCm39) |
I322T |
probably damaging |
Het |
Glod4 |
A |
G |
11: 76,134,406 (GRCm39) |
F22S |
probably damaging |
Het |
Gm3127 |
A |
G |
14: 15,432,190 (GRCm39) |
T231A |
possibly damaging |
Het |
Gm49383 |
A |
G |
12: 69,243,730 (GRCm39) |
S444P |
possibly damaging |
Het |
Gnaz |
T |
C |
10: 74,827,268 (GRCm39) |
S7P |
possibly damaging |
Het |
Grin2b |
C |
T |
6: 135,757,198 (GRCm39) |
S421N |
probably benign |
Het |
Grm1 |
T |
C |
10: 10,564,924 (GRCm39) |
D1128G |
probably benign |
Het |
Hoxb13 |
A |
G |
11: 96,087,044 (GRCm39) |
T284A |
probably benign |
Het |
Il9r |
G |
A |
11: 32,143,177 (GRCm39) |
Q260* |
probably null |
Het |
Lrrfip1 |
T |
A |
1: 91,042,737 (GRCm39) |
C381S |
probably benign |
Het |
Mitd1 |
A |
T |
1: 37,921,778 (GRCm39) |
D85E |
probably benign |
Het |
Muc4 |
G |
A |
16: 32,582,892 (GRCm39) |
D2556N |
possibly damaging |
Het |
Nlrc4 |
A |
G |
17: 74,752,934 (GRCm39) |
I483T |
probably damaging |
Het |
Or13e8 |
A |
G |
4: 43,697,170 (GRCm39) |
M1T |
probably null |
Het |
Or2ag17 |
A |
T |
7: 106,389,434 (GRCm39) |
M258K |
probably damaging |
Het |
Or8g4 |
A |
G |
9: 39,662,540 (GRCm39) |
N286S |
probably damaging |
Het |
Pcdhb7 |
C |
A |
18: 37,476,631 (GRCm39) |
A589E |
probably benign |
Het |
Pcdhgb5 |
G |
A |
18: 37,864,321 (GRCm39) |
E39K |
probably damaging |
Het |
Pja2 |
T |
C |
17: 64,615,954 (GRCm39) |
K314E |
probably damaging |
Het |
Plcb1 |
A |
G |
2: 135,104,159 (GRCm39) |
E276G |
possibly damaging |
Het |
Ppp2r5c |
A |
G |
12: 110,510,579 (GRCm39) |
E122G |
probably damaging |
Het |
Prrc2c |
A |
T |
1: 162,520,413 (GRCm39) |
N732K |
probably damaging |
Het |
Rb1cc1 |
T |
A |
1: 6,333,126 (GRCm39) |
D1348E |
probably benign |
Het |
Sh3rf1 |
G |
T |
8: 61,814,766 (GRCm39) |
E442* |
probably null |
Het |
Snapc1 |
A |
G |
12: 74,016,974 (GRCm39) |
D204G |
probably damaging |
Het |
Sry |
C |
T |
Y: 2,662,938 (GRCm39) |
D241N |
unknown |
Het |
Strn4 |
T |
A |
7: 16,564,279 (GRCm39) |
M303K |
probably benign |
Het |
Tas2r118 |
A |
G |
6: 23,969,470 (GRCm39) |
I197T |
probably benign |
Het |
Tnni3k |
A |
G |
3: 154,498,413 (GRCm39) |
Y809H |
probably benign |
Het |
Tnpo3 |
A |
T |
6: 29,572,594 (GRCm39) |
C419* |
probably null |
Het |
Trpm6 |
T |
C |
19: 18,760,527 (GRCm39) |
S143P |
probably benign |
Het |
Ttc23l |
A |
T |
15: 10,537,666 (GRCm39) |
C201* |
probably null |
Het |
Ubr4 |
A |
G |
4: 139,120,388 (GRCm39) |
N271S |
probably damaging |
Het |
Vmn1r70 |
T |
C |
7: 10,367,971 (GRCm39) |
M134T |
probably benign |
Het |
Vmn2r27 |
C |
T |
6: 124,201,312 (GRCm39) |
W215* |
probably null |
Het |
Zfp174 |
T |
C |
16: 3,665,804 (GRCm39) |
I23T |
possibly damaging |
Het |
Zfp536 |
T |
A |
7: 37,179,828 (GRCm39) |
S926C |
probably damaging |
Het |
Zfp943 |
T |
C |
17: 22,209,922 (GRCm39) |
S65P |
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 |
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 |
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 |
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'- TTTCTGCCGAGATACCTGCC -3'
(R):5'- TTGAGACGCAGCCATTGGAG -3'
Sequencing Primer
(F):5'- AAGGAATCTCCACCCGGCTG -3'
(R):5'- CGCAGCCATTGGAGATGATC -3'
|
Posted On |
2018-11-28 |