Incidental Mutation 'R6290:Xirp1'
| ID |
508374 |
| 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 |
044460-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.418)
|
| Stock # |
R6290 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
119842821-119852660 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 119847791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 364
(E364A)
|
| 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: E364A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107262
Gene: ENSMUSG00000079243
AA Change: E364A
| 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: 98.3%
- 20x: 95.2%
|
| 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 |
|---|
| Aim2 |
T |
A |
1: 173,289,681 (GRCm39) |
I208N |
possibly damaging |
Het |
| Albfm1 |
T |
C |
5: 90,740,864 (GRCm39) |
|
probably null |
Het |
| Ank3 |
A |
C |
10: 69,827,198 (GRCm39) |
|
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,259,036 (GRCm39) |
E687G |
possibly damaging |
Het |
| Ash1l |
T |
A |
3: 88,890,068 (GRCm39) |
L649* |
probably null |
Het |
| Atp7b |
C |
T |
8: 22,510,836 (GRCm39) |
G437S |
probably damaging |
Het |
| Cep89 |
G |
A |
7: 35,119,688 (GRCm39) |
G349D |
probably damaging |
Het |
| Cntn6 |
T |
A |
6: 104,744,851 (GRCm39) |
Y315N |
probably damaging |
Het |
| Cspg4b |
A |
T |
13: 113,456,492 (GRCm39) |
N846I |
probably damaging |
Het |
| Csrp2 |
T |
C |
10: 110,767,844 (GRCm39) |
C10R |
probably damaging |
Het |
| Cux1 |
T |
C |
5: 136,340,412 (GRCm39) |
N625D |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,732,201 (GRCm39) |
N4235S |
probably damaging |
Het |
| Dpy19l1 |
A |
G |
9: 24,373,896 (GRCm39) |
C265R |
probably damaging |
Het |
| Dse |
A |
G |
10: 34,028,336 (GRCm39) |
M918T |
probably benign |
Het |
| Duox1 |
C |
A |
2: 122,164,288 (GRCm39) |
T916N |
possibly damaging |
Het |
| E130308A19Rik |
A |
T |
4: 59,691,332 (GRCm39) |
I389F |
probably benign |
Het |
| Eif2ak1 |
T |
A |
5: 143,821,617 (GRCm39) |
V311D |
probably benign |
Het |
| Eps15 |
T |
A |
4: 109,220,395 (GRCm39) |
M534K |
probably benign |
Het |
| Gpr182 |
A |
T |
10: 127,586,893 (GRCm39) |
F19L |
probably benign |
Het |
| Ifi214 |
T |
A |
1: 173,356,983 (GRCm39) |
D40V |
probably damaging |
Het |
| Klhl2 |
A |
G |
8: 65,264,351 (GRCm39) |
V121A |
possibly damaging |
Het |
| Klrh1 |
A |
G |
6: 129,743,658 (GRCm39) |
Y209H |
probably benign |
Het |
| Mylk |
T |
A |
16: 34,715,213 (GRCm39) |
S514T |
probably benign |
Het |
| Myo18b |
C |
T |
5: 113,013,601 (GRCm39) |
R785H |
possibly damaging |
Het |
| Naga |
T |
G |
15: 82,219,057 (GRCm39) |
D230A |
possibly damaging |
Het |
| Napsa |
A |
G |
7: 44,230,761 (GRCm39) |
N70D |
probably benign |
Het |
| Nup210l |
T |
A |
3: 90,027,216 (GRCm39) |
Y199* |
probably null |
Het |
| Olfml2b |
A |
T |
1: 170,477,359 (GRCm39) |
K165* |
probably null |
Het |
| Or1j20 |
C |
T |
2: 36,760,448 (GRCm39) |
P290L |
probably damaging |
Het |
| Paxip1 |
A |
T |
5: 27,970,576 (GRCm39) |
|
probably null |
Het |
| Pcyox1 |
T |
A |
6: 86,365,881 (GRCm39) |
K444N |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,242,084 (GRCm39) |
|
probably null |
Het |
| Ppp6r3 |
T |
C |
19: 3,544,011 (GRCm39) |
I335V |
probably benign |
Het |
| Prkcz |
A |
G |
4: 155,440,956 (GRCm39) |
S71P |
probably damaging |
Het |
| Psg19 |
C |
T |
7: 18,528,014 (GRCm39) |
R243Q |
probably benign |
Het |
| Ptbp2 |
A |
T |
3: 119,517,769 (GRCm39) |
M382K |
possibly damaging |
Het |
| Slc16a14 |
T |
A |
1: 84,885,106 (GRCm39) |
I478L |
probably benign |
Het |
| Slc45a1 |
A |
T |
4: 150,727,096 (GRCm39) |
N174K |
probably damaging |
Het |
| Slc5a5 |
G |
A |
8: 71,343,822 (GRCm39) |
T160I |
probably damaging |
Het |
| Smpdl3b |
T |
A |
4: 132,465,586 (GRCm39) |
H278L |
possibly damaging |
Het |
| Sorcs2 |
C |
T |
5: 36,219,931 (GRCm39) |
R371H |
probably damaging |
Het |
| Synpo2 |
A |
T |
3: 122,910,701 (GRCm39) |
S315T |
probably damaging |
Het |
| Taok3 |
A |
G |
5: 117,342,433 (GRCm39) |
Y137C |
probably damaging |
Het |
| Tapbpl |
T |
C |
6: 125,207,679 (GRCm39) |
D49G |
probably benign |
Het |
| Tbr1 |
T |
C |
2: 61,635,394 (GRCm39) |
S115P |
probably benign |
Het |
| Trim67 |
C |
T |
8: 125,549,918 (GRCm39) |
T516I |
probably benign |
Het |
| Trrap |
T |
A |
5: 144,741,828 (GRCm39) |
L1351Q |
probably damaging |
Het |
| Tsc2 |
A |
G |
17: 24,815,884 (GRCm39) |
I166T |
probably benign |
Het |
| Tspan8 |
T |
A |
10: 115,663,729 (GRCm39) |
C22S |
probably damaging |
Het |
| Tyro3 |
T |
C |
2: 119,647,321 (GRCm39) |
S813P |
probably benign |
Het |
| U2af2 |
G |
T |
7: 5,078,683 (GRCm39) |
V421L |
probably benign |
Het |
| Vmn1r77 |
T |
C |
7: 11,775,736 (GRCm39) |
S103P |
probably damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,873 (GRCm39) |
D911E |
probably benign |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Vmn2r56 |
A |
T |
7: 12,428,809 (GRCm39) |
C486S |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,331,772 (GRCm39) |
|
probably null |
Het |
| Zbp1 |
T |
C |
2: 173,057,634 (GRCm39) |
E99G |
probably damaging |
Het |
| Zfp385b |
C |
A |
2: 77,280,612 (GRCm39) |
V109F |
possibly 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 |
|
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 |
|
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'- AATGCTGTCTAAGGGAAGGGTC -3'
(R):5'- TTGGATCTTTGAGACGCAGC -3'
Sequencing Primer
(F):5'- CATCATTCTGGGGGACACC -3'
(R):5'- AGACGCAGCCTTTGGATG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation