Incidental Mutation 'R8371:Xirp1'
| ID |
646396 |
| 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 |
067740-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.418)
|
| Stock # |
R8371 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
119842821-119852660 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 119848499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 128
(R128Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111635]
[ENSMUST00000177637]
[ENSMUST00000213113]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111635
AA Change: R128Q
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107262
Gene: ENSMUSG00000079243
AA Change: R128Q
| 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: 99.6%
- 20x: 98.7%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
T |
11: 109,945,473 (GRCm39) |
Q1050K |
probably benign |
Het |
| B4galt5 |
A |
G |
2: 167,151,145 (GRCm39) |
M121T |
probably damaging |
Het |
| Birc2 |
A |
G |
9: 7,849,427 (GRCm39) |
L549P |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,610,036 (GRCm39) |
N368S |
possibly damaging |
Het |
| Cbr1 |
A |
G |
16: 93,406,779 (GRCm39) |
E165G |
probably damaging |
Het |
| Ccdc178 |
T |
C |
18: 21,944,561 (GRCm39) |
D866G |
possibly damaging |
Het |
| Cd40 |
G |
A |
2: 164,908,458 (GRCm39) |
G178E |
probably damaging |
Het |
| Cers1 |
T |
A |
8: 70,782,223 (GRCm39) |
L349H |
probably benign |
Het |
| Chd8 |
T |
C |
14: 52,470,275 (GRCm39) |
K445R |
probably benign |
Het |
| Clca3a2 |
G |
T |
3: 144,513,114 (GRCm39) |
S477* |
probably null |
Het |
| Clec4a1 |
T |
A |
6: 122,910,882 (GRCm39) |
*246R |
probably null |
Het |
| CN725425 |
T |
C |
15: 91,124,973 (GRCm39) |
I171T |
probably benign |
Het |
| Crybg3 |
A |
G |
16: 59,377,414 (GRCm39) |
M1280T |
probably benign |
Het |
| Csf1r |
A |
T |
18: 61,250,663 (GRCm39) |
Q458L |
probably benign |
Het |
| Cyp3a11 |
A |
T |
5: 145,805,438 (GRCm39) |
V193E |
possibly damaging |
Het |
| Cys1 |
A |
G |
12: 24,718,694 (GRCm39) |
I53T |
probably benign |
Het |
| Dhrs3 |
A |
C |
4: 144,645,953 (GRCm39) |
|
probably null |
Het |
| Dhx57 |
T |
C |
17: 80,582,919 (GRCm39) |
R229G |
probably benign |
Het |
| Dhx9 |
T |
C |
1: 153,331,961 (GRCm39) |
N1336D |
unknown |
Het |
| Dmgdh |
T |
A |
13: 93,845,238 (GRCm39) |
H410Q |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,031,781 (GRCm39) |
M2225K |
probably benign |
Het |
| Eif4g3 |
T |
G |
4: 137,824,156 (GRCm39) |
Y80D |
probably damaging |
Het |
| Ephx4 |
A |
T |
5: 107,561,384 (GRCm39) |
I164F |
possibly damaging |
Het |
| Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
| Fhl4 |
G |
A |
10: 84,934,637 (GRCm39) |
A48V |
probably benign |
Het |
| Fmn2 |
T |
C |
1: 174,437,173 (GRCm39) |
L1048S |
unknown |
Het |
| Gemin5 |
T |
C |
11: 58,017,384 (GRCm39) |
M1212V |
probably benign |
Het |
| Gm9195 |
C |
T |
14: 72,697,899 (GRCm39) |
V1294I |
probably benign |
Het |
| Gpr55 |
A |
T |
1: 85,868,849 (GRCm39) |
V244E |
probably damaging |
Het |
| Hgfac |
T |
A |
5: 35,202,787 (GRCm39) |
F429Y |
probably damaging |
Het |
| Jade2 |
T |
A |
11: 51,715,959 (GRCm39) |
E415D |
probably benign |
Het |
| Kcnj4 |
T |
A |
15: 79,369,342 (GRCm39) |
I213F |
probably damaging |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Klhl33 |
C |
T |
14: 51,129,689 (GRCm39) |
R312Q |
probably damaging |
Het |
| Krt82 |
T |
C |
15: 101,453,546 (GRCm39) |
E280G |
probably benign |
Het |
| Lemd1 |
C |
A |
1: 132,156,687 (GRCm39) |
Q40K |
probably damaging |
Het |
| Lmo7 |
T |
C |
14: 102,124,444 (GRCm39) |
L423P |
possibly damaging |
Het |
| Lrp8 |
A |
G |
4: 107,726,268 (GRCm39) |
Y773C |
probably damaging |
Het |
| Miga2 |
AAGAG |
AAG |
2: 30,265,755 (GRCm39) |
|
probably null |
Het |
| Mroh8 |
A |
T |
2: 157,094,896 (GRCm39) |
Y363* |
probably null |
Het |
| Or2n1c |
G |
A |
17: 38,519,189 (GRCm39) |
A18T |
probably benign |
Het |
| Or51a25 |
C |
A |
7: 102,372,790 (GRCm39) |
K302N |
probably damaging |
Het |
| Or5p61 |
G |
A |
7: 107,758,435 (GRCm39) |
T215I |
probably benign |
Het |
| Pcdha2 |
T |
C |
18: 37,073,316 (GRCm39) |
Y316H |
possibly damaging |
Het |
| Pcdha6 |
T |
A |
18: 37,102,920 (GRCm39) |
C704* |
probably null |
Het |
| Pik3c2g |
G |
A |
6: 139,881,782 (GRCm39) |
V923M |
unknown |
Het |
| Rhd |
A |
G |
4: 134,603,694 (GRCm39) |
S72G |
probably benign |
Het |
| Rhot1 |
T |
C |
11: 80,134,292 (GRCm39) |
L295P |
probably damaging |
Het |
| Rrp1b |
A |
G |
17: 32,268,458 (GRCm39) |
E139G |
possibly damaging |
Het |
| Scnn1a |
T |
G |
6: 125,320,806 (GRCm39) |
Y620D |
possibly damaging |
Het |
| Serpinb12 |
A |
T |
1: 106,884,135 (GRCm39) |
I294L |
probably benign |
Het |
| Serpinb3d |
T |
C |
1: 107,008,469 (GRCm39) |
D132G |
probably damaging |
Het |
| Slc26a3 |
A |
T |
12: 31,502,541 (GRCm39) |
D254V |
probably damaging |
Het |
| Srrm1 |
A |
T |
4: 135,052,532 (GRCm39) |
I614N |
unknown |
Het |
| Stt3b |
A |
G |
9: 115,095,243 (GRCm39) |
Y263H |
probably damaging |
Het |
| Taf7 |
T |
A |
18: 37,776,552 (GRCm39) |
K5I |
probably damaging |
Het |
| Tbck |
C |
A |
3: 132,458,285 (GRCm39) |
H638Q |
possibly damaging |
Het |
| Tnfsf9 |
A |
C |
17: 57,412,541 (GRCm39) |
D37A |
probably benign |
Het |
| Trim71 |
C |
A |
9: 114,344,857 (GRCm39) |
V354F |
probably benign |
Het |
| Tspoap1 |
T |
G |
11: 87,669,127 (GRCm39) |
C1467G |
probably benign |
Het |
| Zc3h12d |
GCCC |
GCC |
10: 7,715,735 (GRCm39) |
|
probably null |
Het |
| Zfhx2 |
T |
C |
14: 55,301,549 (GRCm39) |
D2145G |
probably damaging |
Het |
| Zfy2 |
T |
C |
Y: 2,117,168 (GRCm39) |
T220A |
probably benign |
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 |
|
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 |
|
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'- TCCCTGTACATCTCCAGTGG -3'
(R):5'- TCCGGCGTCTCTACAAACAC -3'
Sequencing Primer
(F):5'- TGTACATCTCCAGTGGCTGCAG -3'
(R):5'- ATCCACCCTGAGCTTCGGAAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation