Incidental Mutation 'R5297:Xirp1'
| ID |
405492 |
| 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 |
042880-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.460)
|
| Stock # |
R5297 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
119842821-119852660 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 119848668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 72
(A72S)
|
| 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 damaging
Transcript: ENSMUST00000111635
AA Change: A72S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107262
Gene: ENSMUSG00000079243
AA Change: A72S
| 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: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd6 |
G |
T |
1: 155,463,204 (GRCm39) |
A135S |
probably benign |
Het |
| Agbl4 |
A |
G |
4: 111,423,895 (GRCm39) |
K307R |
possibly damaging |
Het |
| Akna |
T |
C |
4: 63,300,083 (GRCm39) |
E653G |
possibly damaging |
Het |
| Arhgap26 |
T |
C |
18: 39,254,941 (GRCm39) |
Y273H |
probably damaging |
Het |
| Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
| Atp1a1 |
C |
T |
3: 101,498,443 (GRCm39) |
V250M |
possibly damaging |
Het |
| Cacna1c |
T |
G |
6: 118,719,322 (GRCm39) |
D215A |
probably damaging |
Het |
| Cadps |
T |
A |
14: 12,822,345 (GRCm38) |
N132Y |
probably damaging |
Het |
| Casp6 |
T |
C |
3: 129,704,204 (GRCm39) |
F97L |
possibly damaging |
Het |
| Ckap2l |
T |
C |
2: 129,127,290 (GRCm39) |
N296S |
possibly damaging |
Het |
| Col6a4 |
T |
C |
9: 105,952,066 (GRCm39) |
K611E |
probably benign |
Het |
| Copa |
A |
G |
1: 171,940,675 (GRCm39) |
H696R |
probably damaging |
Het |
| Cyp2a4 |
T |
A |
7: 26,011,629 (GRCm39) |
N283K |
probably benign |
Het |
| Dcc |
C |
T |
18: 71,511,809 (GRCm39) |
V869I |
probably benign |
Het |
| Efemp1 |
G |
T |
11: 28,817,868 (GRCm39) |
G116C |
probably damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,302,473 (GRCm39) |
E373G |
probably benign |
Het |
| Fbxo9 |
T |
C |
9: 77,993,561 (GRCm39) |
T318A |
probably benign |
Het |
| Gipr |
A |
G |
7: 18,891,469 (GRCm39) |
W403R |
probably damaging |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Golgb1 |
G |
A |
16: 36,695,978 (GRCm39) |
|
probably benign |
Het |
| Hdac1-ps |
A |
G |
17: 78,800,187 (GRCm39) |
S393G |
probably benign |
Het |
| Herc3 |
T |
C |
6: 58,833,626 (GRCm39) |
L171P |
probably damaging |
Het |
| Il5ra |
A |
G |
6: 106,715,095 (GRCm39) |
I221T |
probably benign |
Het |
| Itgb2 |
A |
G |
10: 77,400,501 (GRCm39) |
I705V |
probably damaging |
Het |
| Map4k4 |
G |
T |
1: 40,001,377 (GRCm39) |
V55F |
probably damaging |
Het |
| Mast1 |
A |
G |
8: 85,639,947 (GRCm39) |
|
probably null |
Het |
| Mitf |
G |
T |
6: 97,971,391 (GRCm39) |
G186V |
probably benign |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Nrcam |
T |
C |
12: 44,591,567 (GRCm39) |
F204L |
probably damaging |
Het |
| Or10g1 |
A |
G |
14: 52,647,675 (GRCm39) |
L218P |
probably damaging |
Het |
| Or10x4 |
A |
G |
1: 174,218,766 (GRCm39) |
M44V |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or1e22 |
A |
T |
11: 73,377,215 (GRCm39) |
V145E |
probably damaging |
Het |
| Or2a12 |
T |
C |
6: 42,904,371 (GRCm39) |
S69P |
probably benign |
Het |
| Or52n4b |
A |
T |
7: 108,144,611 (GRCm39) |
N291I |
probably damaging |
Het |
| Or5as1 |
T |
C |
2: 86,980,793 (GRCm39) |
I71V |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,726,263 (GRCm39) |
|
probably benign |
Het |
| Pik3ca |
T |
A |
3: 32,504,202 (GRCm39) |
Y631N |
probably damaging |
Het |
| Pramel19 |
T |
A |
4: 101,798,348 (GRCm39) |
D106E |
possibly damaging |
Het |
| Ptk2b |
T |
C |
14: 66,409,966 (GRCm39) |
D462G |
probably benign |
Het |
| Rnf19a |
A |
G |
15: 36,247,924 (GRCm39) |
S427P |
probably damaging |
Het |
| Scn3a |
T |
A |
2: 65,299,378 (GRCm39) |
Y1376F |
possibly damaging |
Het |
| Shoc1 |
A |
G |
4: 59,047,543 (GRCm39) |
W1359R |
probably benign |
Het |
| Spem1 |
A |
G |
11: 69,711,753 (GRCm39) |
Y304H |
probably damaging |
Het |
| Stk38l |
C |
A |
6: 146,677,153 (GRCm39) |
Y450* |
probably null |
Het |
| Stx19 |
A |
G |
16: 62,642,337 (GRCm39) |
E51G |
probably damaging |
Het |
| Ttc41 |
C |
G |
10: 86,612,443 (GRCm39) |
Q1239E |
probably benign |
Het |
| Tuba3a |
C |
T |
6: 125,258,303 (GRCm39) |
R229H |
probably damaging |
Het |
| Utp18 |
A |
T |
11: 93,766,915 (GRCm39) |
V264D |
probably damaging |
Het |
| V1rd19 |
T |
C |
7: 23,702,714 (GRCm39) |
V60A |
probably damaging |
Het |
| Virma |
T |
G |
4: 11,494,819 (GRCm39) |
V40G |
probably damaging |
Het |
| Vmn1r160 |
C |
T |
7: 22,570,715 (GRCm39) |
Q23* |
probably null |
Het |
| Vmn2r13 |
T |
C |
5: 109,339,805 (GRCm39) |
I57V |
probably benign |
Het |
| Vmn2r26 |
T |
A |
6: 124,038,832 (GRCm39) |
F802L |
probably damaging |
Het |
| Vmn2r61 |
A |
G |
7: 41,909,646 (GRCm39) |
D57G |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,785,413 (GRCm39) |
N260S |
probably damaging |
Het |
| Zfp212 |
T |
C |
6: 47,906,011 (GRCm39) |
V190A |
probably benign |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
|
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 |
|
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'- GCTGTTGGTAAAGGAGCCTTC -3'
(R):5'- GATGCAGGTAGCTCCTACAC -3'
Sequencing Primer
(F):5'- TCCTCAAACTTTCGAGAGGTGGC -3'
(R):5'- GGTAGCTCCTACACCAACCATC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation