Incidental Mutation 'R6091:Xirp1'
| ID |
485932 |
| 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 |
044248-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.430)
|
| Stock # |
R6091 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
120013755-120023598 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120017963 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 618
(V618A)
|
| 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: V618A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000107262
Gene: ENSMUSG00000079243
AA Change: V618A
| 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: 99.5%
- 10x: 97.4%
- 20x: 91.8%
|
| Validation Efficiency |
96% (54/56) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
G |
2: 35,362,336 (GRCm38) |
T50P |
possibly damaging |
Het |
| Adad1 |
A |
G |
3: 37,084,969 (GRCm38) |
E396G |
possibly damaging |
Het |
| Adamtsl3 |
T |
A |
7: 82,465,621 (GRCm38) |
C232S |
probably damaging |
Het |
| AI606181 |
T |
C |
19: 41,593,624 (GRCm38) |
S78P |
unknown |
Het |
| Amph |
T |
A |
13: 19,125,123 (GRCm38) |
M457K |
probably benign |
Het |
| Ano1 |
A |
T |
7: 144,669,434 (GRCm38) |
M174K |
probably benign |
Het |
| C3 |
T |
A |
17: 57,221,967 (GRCm38) |
K632* |
probably null |
Het |
| Cep170 |
C |
T |
1: 176,755,831 (GRCm38) |
G994D |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,751,875 (GRCm38) |
V124A |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,035,063 (GRCm38) |
K2259E |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,955,334 (GRCm38) |
T137A |
unknown |
Het |
| Dcc |
C |
T |
18: 71,809,114 (GRCm38) |
V311I |
probably benign |
Het |
| Ddx42 |
A |
T |
11: 106,234,970 (GRCm38) |
Q282L |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 28,104,965 (GRCm38) |
T1833A |
possibly damaging |
Het |
| Fpr-rs3 |
A |
G |
17: 20,624,270 (GRCm38) |
I203T |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,900,559 (GRCm38) |
I2139T |
probably benign |
Het |
| Frmpd2 |
T |
C |
14: 33,522,863 (GRCm38) |
V546A |
probably damaging |
Het |
| Gbp11 |
G |
T |
5: 105,331,388 (GRCm38) |
T123N |
possibly damaging |
Het |
| Hs3st1 |
G |
A |
5: 39,614,664 (GRCm38) |
P212L |
probably damaging |
Het |
| Ifnb1 |
T |
A |
4: 88,522,576 (GRCm38) |
M67L |
probably benign |
Het |
| Ighv1-54 |
T |
C |
12: 115,193,877 (GRCm38) |
N50S |
probably benign |
Het |
| Ikzf4 |
G |
A |
10: 128,634,673 (GRCm38) |
T326I |
probably benign |
Het |
| Ints2 |
A |
T |
11: 86,236,603 (GRCm38) |
V501E |
probably damaging |
Het |
| Mfsd1 |
C |
A |
3: 67,599,937 (GRCm38) |
|
probably null |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,232,257 (GRCm38) |
|
probably null |
Het |
| Mrps11 |
G |
A |
7: 78,788,718 (GRCm38) |
A73T |
possibly damaging |
Het |
| Mterf4 |
T |
C |
1: 93,301,569 (GRCm38) |
E311G |
probably damaging |
Het |
| Mx2 |
A |
G |
16: 97,546,435 (GRCm38) |
T176A |
probably damaging |
Het |
| Mycbp2 |
A |
C |
14: 103,223,046 (GRCm38) |
L1495R |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 70,238,769 (GRCm38) |
T451A |
probably benign |
Het |
| Myrfl |
T |
C |
10: 116,849,206 (GRCm38) |
T90A |
probably benign |
Het |
| Nbeal1 |
A |
G |
1: 60,181,556 (GRCm38) |
|
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,419,617 (GRCm38) |
L201P |
probably damaging |
Het |
| Nfxl1 |
G |
T |
5: 72,514,190 (GRCm38) |
L909I |
probably benign |
Het |
| Nr3c1 |
GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
18: 39,486,958 (GRCm38) |
|
probably benign |
Het |
| Olfr1107 |
T |
A |
2: 87,071,361 (GRCm38) |
S258C |
probably benign |
Het |
| Plscr5 |
A |
G |
9: 92,204,384 (GRCm38) |
T136A |
probably benign |
Het |
| Ppp1r3a |
G |
A |
6: 14,719,340 (GRCm38) |
T525I |
probably benign |
Het |
| Ptprg |
G |
A |
14: 12,215,979 (GRCm38) |
G1143R |
probably damaging |
Het |
| Rbm47 |
G |
C |
5: 66,026,283 (GRCm38) |
R326G |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 29,071,973 (GRCm38) |
T2541A |
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,028,619 (GRCm38) |
L1244P |
probably damaging |
Het |
| Sec16a |
G |
A |
2: 26,426,470 (GRCm38) |
H1673Y |
probably damaging |
Het |
| Slc22a19 |
A |
G |
19: 7,711,063 (GRCm38) |
I44T |
probably benign |
Het |
| Snap91 |
T |
A |
9: 86,839,628 (GRCm38) |
N53Y |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,288,101 (GRCm38) |
T338A |
possibly damaging |
Het |
| Taf6l |
T |
C |
19: 8,778,556 (GRCm38) |
T243A |
probably benign |
Het |
| Tex10 |
T |
C |
4: 48,459,891 (GRCm38) |
R487G |
probably damaging |
Het |
| Tfcp2 |
G |
T |
15: 100,512,313 (GRCm38) |
T391N |
probably damaging |
Het |
| Tnxb |
G |
A |
17: 34,710,364 (GRCm38) |
V2794M |
probably damaging |
Het |
| Ush2a |
T |
G |
1: 188,399,803 (GRCm38) |
C741G |
probably damaging |
Het |
| Vmn1r3 |
T |
A |
4: 3,184,684 (GRCm38) |
I208F |
probably damaging |
Het |
| Vmn2r28 |
T |
A |
7: 5,493,791 (GRCm38) |
I21F |
possibly damaging |
Het |
| Vmn2r93 |
A |
G |
17: 18,325,696 (GRCm38) |
D610G |
probably benign |
Het |
| Wbp1 |
T |
C |
6: 83,119,487 (GRCm38) |
S229G |
probably benign |
Het |
| Zbtb32 |
A |
G |
7: 30,591,829 (GRCm38) |
S14P |
possibly damaging |
Het |
| Zfp24 |
A |
G |
18: 24,014,212 (GRCm38) |
S348P |
probably damaging |
Het |
|
| Other mutations in Xirp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01814:Xirp1
|
APN |
9 |
120,017,919 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02105:Xirp1
|
APN |
9 |
120,016,997 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03365:Xirp1
|
APN |
9 |
120,018,539 (GRCm38) |
missense |
probably damaging |
0.99 |
|
busybody
|
UTSW |
9 |
120,019,753 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
Buzzer
|
UTSW |
9 |
120,018,491 (GRCm38) |
missense |
probably damaging |
1.00 |
|
cornflower
|
UTSW |
9 |
120,019,815 (GRCm38) |
start codon destroyed |
probably null |
0.89 |
|
R0006:Xirp1
|
UTSW |
9 |
120,017,454 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0320:Xirp1
|
UTSW |
9 |
120,016,467 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0881:Xirp1
|
UTSW |
9 |
120,018,417 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R1220:Xirp1
|
UTSW |
9 |
120,017,916 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1707:Xirp1
|
UTSW |
9 |
120,018,775 (GRCm38) |
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 |
120,018,591 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1983:Xirp1
|
UTSW |
9 |
120,016,629 (GRCm38) |
nonsense |
probably null |
|
|
R2064:Xirp1
|
UTSW |
9 |
120,016,896 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2860:Xirp1
|
UTSW |
9 |
120,019,815 (GRCm38) |
start codon destroyed |
probably null |
0.89 |
|
R2860:Xirp1
|
UTSW |
9 |
120,018,378 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2861:Xirp1
|
UTSW |
9 |
120,018,378 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2861:Xirp1
|
UTSW |
9 |
120,019,815 (GRCm38) |
start codon destroyed |
probably null |
0.89 |
|
R2919:Xirp1
|
UTSW |
9 |
120,018,701 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R3013:Xirp1
|
UTSW |
9 |
120,019,785 (GRCm38) |
missense |
probably benign |
|
|
R3704:Xirp1
|
UTSW |
9 |
120,016,907 (GRCm38) |
missense |
probably benign |
0.04 |
|
R3898:Xirp1
|
UTSW |
9 |
120,019,340 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3981:Xirp1
|
UTSW |
9 |
120,017,744 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4609:Xirp1
|
UTSW |
9 |
120,016,506 (GRCm38) |
missense |
probably benign |
|
|
R4613:Xirp1
|
UTSW |
9 |
120,019,682 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4660:Xirp1
|
UTSW |
9 |
120,016,992 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4703:Xirp1
|
UTSW |
9 |
120,017,027 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4825:Xirp1
|
UTSW |
9 |
120,017,003 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R4993:Xirp1
|
UTSW |
9 |
120,018,792 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5297:Xirp1
|
UTSW |
9 |
120,019,602 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5939:Xirp1
|
UTSW |
9 |
120,018,509 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6290:Xirp1
|
UTSW |
9 |
120,018,725 (GRCm38) |
missense |
probably benign |
|
|
R6376:Xirp1
|
UTSW |
9 |
120,018,491 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6515:Xirp1
|
UTSW |
9 |
120,016,917 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6616:Xirp1
|
UTSW |
9 |
120,019,014 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6976:Xirp1
|
UTSW |
9 |
120,017,918 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7165:Xirp1
|
UTSW |
9 |
120,019,047 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7471:Xirp1
|
UTSW |
9 |
120,019,110 (GRCm38) |
nonsense |
probably null |
|
|
R7744:Xirp1
|
UTSW |
9 |
120,016,846 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R7847:Xirp1
|
UTSW |
9 |
120,019,753 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8010:Xirp1
|
UTSW |
9 |
120,017,824 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8371:Xirp1
|
UTSW |
9 |
120,019,433 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R8868:Xirp1
|
UTSW |
9 |
120,017,805 (GRCm38) |
missense |
probably benign |
|
|
R9165:Xirp1
|
UTSW |
9 |
120,018,236 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9342:Xirp1
|
UTSW |
9 |
120,016,884 (GRCm38) |
missense |
probably benign |
|
|
R9440:Xirp1
|
UTSW |
9 |
120,018,137 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9527:Xirp1
|
UTSW |
9 |
120,018,492 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9605:Xirp1
|
UTSW |
9 |
120,018,208 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R9629:Xirp1
|
UTSW |
9 |
120,017,313 (GRCm38) |
missense |
probably benign |
0.00 |
|
V8831:Xirp1
|
UTSW |
9 |
120,016,907 (GRCm38) |
missense |
probably benign |
|
|
X0025:Xirp1
|
UTSW |
9 |
120,019,155 (GRCm38) |
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 |
120,016,880 (GRCm38) |
missense |
probably damaging |
0.96 |
|
Z1177:Xirp1
|
UTSW |
9 |
120,017,154 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1177:Xirp1
|
UTSW |
9 |
120,016,907 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCCACTGGATTGGTTTGAGG -3'
(R):5'- TATCACTCGGCAGGAAGTGG -3'
Sequencing Primer
(F):5'- GGCTGGCAGAGATTCAGTC -3'
(R):5'- CTTTGAGACGCAGCCATTG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation