Incidental Mutation 'R5939:Xirp1'
ID |
462438 |
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 |
043243-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.418)
|
Stock # |
R5939 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
119842821-119852660 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 119847575 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 436
(D436A)
|
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 benign
Transcript: ENSMUST00000111635
AA Change: D436A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000107262 Gene: ENSMUSG00000079243 AA Change: D436A
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: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.9%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
A |
T |
8: 25,404,138 (GRCm39) |
F225I |
probably damaging |
Het |
Ager |
G |
T |
17: 34,817,175 (GRCm39) |
C38F |
probably damaging |
Het |
Arel1 |
C |
A |
12: 84,973,066 (GRCm39) |
R577L |
probably damaging |
Het |
Armh1 |
T |
C |
4: 117,087,119 (GRCm39) |
Y182C |
probably damaging |
Het |
Cabp2 |
G |
T |
19: 4,136,470 (GRCm39) |
C172F |
possibly damaging |
Het |
Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
D630045J12Rik |
A |
C |
6: 38,171,904 (GRCm39) |
S755A |
possibly damaging |
Het |
Duox1 |
A |
T |
2: 122,176,832 (GRCm39) |
H1451L |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,037,801 (GRCm39) |
V3359A |
probably damaging |
Het |
Erlin2 |
T |
C |
8: 27,526,554 (GRCm39) |
F305L |
probably benign |
Het |
Gm10428 |
A |
C |
11: 62,644,288 (GRCm39) |
|
probably benign |
Het |
Gnal |
G |
A |
18: 67,324,456 (GRCm39) |
V204M |
probably damaging |
Het |
Intu |
T |
C |
3: 40,647,014 (GRCm39) |
V629A |
probably damaging |
Het |
Lrguk |
G |
T |
6: 34,055,688 (GRCm39) |
C435F |
probably damaging |
Het |
Man1c1 |
C |
T |
4: 134,293,147 (GRCm39) |
V543M |
probably damaging |
Het |
Mcm3ap |
A |
G |
10: 76,344,195 (GRCm39) |
H1779R |
probably benign |
Het |
Neb |
T |
C |
2: 52,147,606 (GRCm39) |
T2776A |
probably benign |
Het |
Nek10 |
A |
T |
14: 14,931,290 (GRCm38) |
Y754F |
possibly damaging |
Het |
Nr3c1 |
A |
G |
18: 39,553,706 (GRCm39) |
I664T |
probably benign |
Het |
Nrip1 |
T |
C |
16: 76,089,010 (GRCm39) |
E849G |
probably damaging |
Het |
Nrros |
A |
G |
16: 31,962,272 (GRCm39) |
F546L |
probably benign |
Het |
Or12e8 |
A |
C |
2: 87,188,048 (GRCm39) |
I87L |
possibly damaging |
Het |
Or5d39 |
T |
C |
2: 87,979,853 (GRCm39) |
Y170C |
probably damaging |
Het |
Pcdhb16 |
A |
G |
18: 37,611,117 (GRCm39) |
T26A |
probably benign |
Het |
Penk |
A |
G |
4: 4,138,010 (GRCm39) |
F45S |
probably benign |
Het |
Pgap4 |
T |
A |
4: 49,586,412 (GRCm39) |
Q252L |
probably damaging |
Het |
Ppp2r3d |
A |
T |
9: 101,089,824 (GRCm39) |
N166K |
probably benign |
Het |
Psmb1 |
A |
G |
17: 15,718,440 (GRCm39) |
F29L |
probably damaging |
Het |
Rab23 |
T |
C |
1: 33,762,990 (GRCm39) |
V20A |
probably damaging |
Het |
Ryr1 |
C |
T |
7: 28,815,552 (GRCm39) |
A113T |
probably damaging |
Het |
Ryr2 |
C |
T |
13: 11,805,218 (GRCm39) |
R882K |
probably damaging |
Het |
Slc6a6 |
A |
G |
6: 91,731,929 (GRCm39) |
N586S |
probably benign |
Het |
Slc9c1 |
A |
G |
16: 45,368,031 (GRCm39) |
I207V |
probably benign |
Het |
Spef2 |
G |
A |
15: 9,614,301 (GRCm39) |
T1215I |
probably benign |
Het |
Thoc2l |
T |
C |
5: 104,667,073 (GRCm39) |
Y532H |
possibly damaging |
Het |
Tmc7 |
C |
T |
7: 118,144,950 (GRCm39) |
A537T |
probably benign |
Het |
Tmem70 |
T |
C |
1: 16,747,615 (GRCm39) |
V243A |
probably benign |
Het |
Top2b |
T |
C |
14: 16,422,786 (GRCm38) |
Y1408H |
probably damaging |
Het |
Tpcn1 |
A |
T |
5: 120,677,892 (GRCm39) |
F642I |
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 |
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 |
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'- CTGCATAGCATATACCGGGG -3'
(R):5'- GTTCCCTGGACACTCTGAAG -3'
Sequencing Primer
(F):5'- CATAGCATATACCGGGGCGTCAG -3'
(R):5'- CCACCCAAGGAGGAGGTGATTC -3'
|
Posted On |
2017-02-28 |