Incidental Mutation 'R0006:Xirp1'
| ID |
43653 |
| 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 |
041980-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.430)
|
| Stock # |
R0006 (G1)
|
| Quality Score |
150 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
120013755-120023598 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120017454 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 788
(I788V)
|
| 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: I788V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000107262
Gene: ENSMUSG00000079243
AA Change: I788V
| 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 |
0.0712 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.3%
|
| Validation Efficiency |
97% (67/69) |
| 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 |
|---|
| Aebp1 |
A |
G |
11: 5,863,935 (GRCm38) |
|
probably benign |
Het |
| Aldh3a1 |
G |
A |
11: 61,217,101 (GRCm38) |
V324M |
probably damaging |
Het |
| Als2cl |
T |
A |
9: 110,894,618 (GRCm38) |
L694Q |
possibly damaging |
Het |
| Appl2 |
A |
G |
10: 83,602,898 (GRCm38) |
F556L |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 4,942,030 (GRCm38) |
S210T |
possibly damaging |
Het |
| Aurka |
A |
G |
2: 172,359,753 (GRCm38) |
|
probably null |
Het |
| Boc |
C |
T |
16: 44,496,449 (GRCm38) |
V444I |
probably benign |
Het |
| Cfap61 |
G |
A |
2: 146,077,312 (GRCm38) |
V655I |
probably benign |
Het |
| Chd8 |
A |
G |
14: 52,235,293 (GRCm38) |
I351T |
possibly damaging |
Het |
| Chid1 |
T |
A |
7: 141,496,426 (GRCm38) |
|
probably benign |
Het |
| Cyp3a41a |
T |
A |
5: 145,704,796 (GRCm38) |
H288L |
probably benign |
Het |
| Dnase2b |
T |
A |
3: 146,582,489 (GRCm38) |
I284F |
probably damaging |
Het |
| Dock2 |
A |
G |
11: 34,312,453 (GRCm38) |
|
probably benign |
Het |
| Dst |
C |
T |
1: 34,228,918 (GRCm38) |
T5325I |
probably benign |
Het |
| Erbb3 |
A |
G |
10: 128,573,410 (GRCm38) |
|
probably null |
Het |
| Fancl |
A |
G |
11: 26,469,695 (GRCm38) |
N316S |
possibly damaging |
Het |
| Farsa |
G |
T |
8: 84,861,305 (GRCm38) |
|
probably benign |
Het |
| Fibcd1 |
T |
G |
2: 31,838,587 (GRCm38) |
D86A |
probably damaging |
Het |
| Gab1 |
A |
T |
8: 80,769,730 (GRCm38) |
M617K |
possibly damaging |
Het |
| Gabrd |
C |
A |
4: 155,388,601 (GRCm38) |
V72L |
probably damaging |
Het |
| Ggh |
C |
A |
4: 20,054,155 (GRCm38) |
T150K |
possibly damaging |
Het |
| Gm340 |
A |
G |
19: 41,584,899 (GRCm38) |
T698A |
probably benign |
Het |
| Gnb3 |
G |
A |
6: 124,835,804 (GRCm38) |
|
probably benign |
Het |
| Hephl1 |
T |
A |
9: 15,076,764 (GRCm38) |
T683S |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,808,676 (GRCm38) |
P381L |
probably damaging |
Het |
| Hspa8 |
T |
G |
9: 40,804,629 (GRCm38) |
N544K |
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,519,931 (GRCm38) |
T1155I |
probably damaging |
Het |
| Igdcc4 |
C |
T |
9: 65,135,100 (GRCm38) |
|
probably benign |
Het |
| Jazf1 |
A |
G |
6: 52,894,086 (GRCm38) |
|
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,789,138 (GRCm38) |
S1219T |
probably benign |
Het |
| L3mbtl1 |
A |
T |
2: 162,964,569 (GRCm38) |
Y460F |
possibly damaging |
Het |
| Lyrm7 |
T |
A |
11: 54,848,597 (GRCm38) |
T76S |
probably benign |
Het |
| Map1b |
C |
T |
13: 99,435,302 (GRCm38) |
V304M |
probably damaging |
Het |
| Mcub |
A |
C |
3: 129,933,765 (GRCm38) |
|
probably benign |
Het |
| Muc13 |
T |
C |
16: 33,803,148 (GRCm38) |
S271P |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,475,988 (GRCm38) |
K843E |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,453,230 (GRCm38) |
E531G |
possibly damaging |
Het |
| Niban3 |
A |
G |
8: 71,605,044 (GRCm38) |
|
probably benign |
Het |
| Nup188 |
T |
C |
2: 30,322,023 (GRCm38) |
V553A |
probably benign |
Het |
| Or1e16 |
A |
G |
11: 73,395,488 (GRCm38) |
F178S |
probably damaging |
Het |
| Or1e1c |
A |
G |
11: 73,375,588 (GRCm38) |
M283V |
possibly damaging |
Het |
| Or52d1 |
A |
G |
7: 104,106,320 (GRCm38) |
I14V |
probably benign |
Het |
| Or6z1 |
A |
G |
7: 6,501,611 (GRCm38) |
I205T |
possibly damaging |
Het |
| Or8b9 |
T |
A |
9: 37,855,220 (GRCm38) |
V134D |
possibly damaging |
Het |
| P4ha3 |
C |
T |
7: 100,318,948 (GRCm38) |
R378* |
probably null |
Het |
| Rap1gds1 |
G |
T |
3: 138,983,871 (GRCm38) |
|
probably null |
Het |
| Rbfox1 |
T |
A |
16: 7,330,420 (GRCm38) |
S244R |
probably benign |
Het |
| Rpp40 |
G |
A |
13: 35,896,735 (GRCm38) |
P339S |
probably damaging |
Het |
| Rsph4a |
T |
C |
10: 33,909,148 (GRCm38) |
C148R |
probably damaging |
Het |
| Skint5 |
T |
C |
4: 113,893,862 (GRCm38) |
|
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,123,855 (GRCm38) |
S1405P |
probably damaging |
Het |
| Tex35 |
T |
C |
1: 157,099,744 (GRCm38) |
K154E |
possibly damaging |
Het |
| Thada |
T |
C |
17: 84,226,040 (GRCm38) |
N1661S |
probably benign |
Het |
| Tle4 |
A |
G |
19: 14,466,714 (GRCm38) |
|
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,682,292 (GRCm38) |
S1027P |
probably benign |
Het |
| Tpm3 |
T |
A |
3: 90,087,661 (GRCm38) |
|
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,431,649 (GRCm38) |
F2438L |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,049,663 (GRCm38) |
F640L |
probably benign |
Het |
| Vmn1r20 |
T |
G |
6: 57,432,305 (GRCm38) |
H205Q |
probably damaging |
Het |
| Wbp2 |
T |
C |
11: 116,079,788 (GRCm38) |
|
probably null |
Het |
| Zc3hav1 |
A |
G |
6: 38,319,702 (GRCm38) |
|
probably null |
Het |
| Zfp687 |
A |
G |
3: 95,011,456 (GRCm38) |
I335T |
probably damaging |
Het |
| Zfpm1 |
A |
G |
8: 122,334,488 (GRCm38) |
Y264C |
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 |
|
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 |
|
R6091:Xirp1
|
UTSW |
9 |
120,017,963 (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'- TCAATATTCCCAGGGTCACCAGGC -3'
(R):5'- ATCTCGGCAGAAAGAGGTTTTCCAG -3'
Sequencing Primer
(F):5'- TGTCCTCCTGAACCAGCAG -3'
(R):5'- CAATCAACCTGGGGTCCATC -3'
|
| Posted On |
2013-05-29 |
Incidental Mutation