Incidental Mutation 'R7847:Xirp1'
| ID |
606691 |
| 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 |
045901-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.418)
|
| Stock # |
R7847 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
119842821-119852660 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 119848819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 21
(D21E)
|
| 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: D21E
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107262
Gene: ENSMUSG00000079243
AA Change: D21E
| 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
|
| Meta Mutation Damage Score |
0.0692 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (45/45) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
T |
A |
17: 35,879,549 (GRCm39) |
Y296N |
probably benign |
Het |
| Abcc4 |
T |
C |
14: 118,864,892 (GRCm39) |
E378G |
probably damaging |
Het |
| Acp2 |
C |
T |
2: 91,041,077 (GRCm39) |
H422Y |
possibly damaging |
Het |
| Aldoart1 |
C |
T |
4: 72,770,193 (GRCm39) |
C205Y |
probably damaging |
Het |
| Alg9 |
T |
C |
9: 50,700,905 (GRCm39) |
L225S |
possibly damaging |
Het |
| Anapc1 |
A |
C |
2: 128,511,828 (GRCm39) |
V455G |
possibly damaging |
Het |
| Arhgef5 |
C |
A |
6: 43,252,069 (GRCm39) |
S940* |
probably null |
Het |
| Asb15 |
C |
A |
6: 24,564,266 (GRCm39) |
A240E |
probably damaging |
Het |
| BB014433 |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
8: 15,092,160 (GRCm39) |
|
probably benign |
Het |
| Ccdc17 |
A |
G |
4: 116,457,103 (GRCm39) |
E529G |
probably benign |
Het |
| Cyp2b10 |
T |
C |
7: 25,597,185 (GRCm39) |
S26P |
possibly damaging |
Het |
| Dcp1b |
T |
C |
6: 119,192,256 (GRCm39) |
S391P |
probably benign |
Het |
| Dock6 |
A |
T |
9: 21,712,503 (GRCm39) |
L2086Q |
unknown |
Het |
| Ephx1 |
A |
G |
1: 180,829,426 (GRCm39) |
S41P |
probably benign |
Het |
| Erbb3 |
G |
A |
10: 128,407,058 (GRCm39) |
T1034M |
probably damaging |
Het |
| Gm17334 |
T |
A |
11: 53,663,564 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,752,282 (GRCm39) |
H3227R |
probably damaging |
Het |
| Grin2c |
G |
A |
11: 115,151,804 (GRCm39) |
P52L |
possibly damaging |
Het |
| Herc2 |
T |
C |
7: 55,807,308 (GRCm39) |
|
probably null |
Het |
| Il17rb |
A |
G |
14: 29,718,763 (GRCm39) |
Y440H |
probably damaging |
Het |
| Kcng4 |
A |
G |
8: 120,352,881 (GRCm39) |
L343P |
probably damaging |
Het |
| Knl1 |
G |
A |
2: 118,901,457 (GRCm39) |
E1053K |
probably benign |
Het |
| Lipo4 |
A |
T |
19: 33,491,599 (GRCm39) |
V128E |
possibly damaging |
Het |
| Lmntd2 |
T |
C |
7: 140,790,063 (GRCm39) |
N650D |
probably benign |
Het |
| Lrrfip2 |
T |
C |
9: 111,042,948 (GRCm39) |
L460P |
probably damaging |
Het |
| Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
| Mtcl1 |
T |
C |
17: 66,651,328 (GRCm39) |
Q1379R |
probably damaging |
Het |
| Mtfr2 |
G |
A |
10: 20,233,198 (GRCm39) |
A256T |
probably benign |
Het |
| Mup17 |
T |
A |
4: 61,511,456 (GRCm39) |
H159L |
probably benign |
Het |
| Ndufaf1 |
A |
T |
2: 119,490,534 (GRCm39) |
D175E |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,058,430 (GRCm39) |
M610V |
probably benign |
Het |
| Or10ak14 |
G |
T |
4: 118,611,565 (GRCm39) |
H59N |
possibly damaging |
Het |
| Or7a38 |
T |
A |
10: 78,752,730 (GRCm39) |
S19T |
probably benign |
Het |
| Or8g35 |
A |
G |
9: 39,381,801 (GRCm39) |
S74P |
probably benign |
Het |
| Pard3b |
A |
G |
1: 62,383,093 (GRCm39) |
D729G |
probably benign |
Het |
| Phactr1 |
T |
C |
13: 43,210,664 (GRCm39) |
L169P |
possibly damaging |
Het |
| Rad54b |
T |
A |
4: 11,612,655 (GRCm39) |
S762R |
probably damaging |
Het |
| Senp5 |
C |
T |
16: 31,808,991 (GRCm39) |
V88I |
probably benign |
Het |
| Specc1l |
T |
C |
10: 75,145,670 (GRCm39) |
V1105A |
probably damaging |
Het |
| Trak2 |
A |
C |
1: 58,974,977 (GRCm39) |
S72A |
possibly damaging |
Het |
| Ttyh2 |
T |
C |
11: 114,566,500 (GRCm39) |
|
probably null |
Het |
| Ush2a |
G |
A |
1: 188,163,005 (GRCm39) |
C1029Y |
probably damaging |
Het |
| Vmn2r17 |
A |
G |
5: 109,568,063 (GRCm39) |
Y62C |
probably damaging |
Het |
| Vmn2r41 |
A |
G |
7: 8,164,547 (GRCm39) |
F2L |
probably benign |
Het |
| Zfp114 |
C |
A |
7: 23,880,460 (GRCm39) |
Q270K |
possibly damaging |
Het |
| Zfp341 |
T |
C |
2: 154,476,114 (GRCm39) |
S441P |
probably damaging |
Het |
| Zfp780b |
A |
C |
7: 27,663,843 (GRCm39) |
H237Q |
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 |
|
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'- AAGATCCAGCGCATACACTG -3'
(R):5'- ATGTGGGAGCCCCTTAGTAGTG -3'
Sequencing Primer
(F):5'- ACTGAACATCGCCCTCAGTGG -3'
(R):5'- AGCCCCTTAGTAGTGGCCAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation