Incidental Mutation 'R7471:Xirp1'
| ID |
579206 |
| 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 |
045545-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.418)
|
| Stock # |
R7471 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
119842821-119852660 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 119848176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 236
(Q236*)
|
| 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 null
Transcript: ENSMUST00000111635
AA Change: Q236*
|
| SMART Domains |
Protein: ENSMUSP00000107262
Gene: ENSMUSG00000079243
AA Change: Q236*
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (73/73) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,168,608 (GRCm39) |
|
probably null |
Het |
| Ace |
T |
C |
11: 105,864,308 (GRCm39) |
V483A |
probably damaging |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Angptl2 |
A |
T |
2: 33,133,751 (GRCm39) |
T358S |
possibly damaging |
Het |
| Apoh |
C |
T |
11: 108,298,131 (GRCm39) |
P144S |
probably damaging |
Het |
| Arid1a |
A |
G |
4: 133,408,355 (GRCm39) |
W1666R |
unknown |
Het |
| Asap3 |
A |
G |
4: 135,960,957 (GRCm39) |
H223R |
possibly damaging |
Het |
| Bcl2l12 |
A |
G |
7: 44,645,977 (GRCm39) |
S81P |
possibly damaging |
Het |
| Brd10 |
A |
C |
19: 29,707,139 (GRCm39) |
|
probably null |
Het |
| C8a |
A |
G |
4: 104,674,822 (GRCm39) |
S550P |
probably benign |
Het |
| Cacna2d1 |
C |
G |
5: 16,139,973 (GRCm39) |
|
probably benign |
Het |
| Ccdc170 |
A |
G |
10: 4,470,803 (GRCm39) |
T216A |
probably benign |
Het |
| Chd7 |
A |
T |
4: 8,859,197 (GRCm39) |
K2429I |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,441,569 (GRCm39) |
N2181S |
probably benign |
Het |
| Cimap1c |
C |
T |
9: 56,759,783 (GRCm39) |
|
probably null |
Het |
| Clip3 |
T |
C |
7: 30,001,377 (GRCm39) |
V342A |
possibly damaging |
Het |
| Cst5 |
C |
T |
2: 149,247,496 (GRCm39) |
L71F |
probably benign |
Het |
| Cyp20a1 |
T |
C |
1: 60,393,799 (GRCm39) |
F139S |
probably damaging |
Het |
| Dclre1b |
T |
A |
3: 103,710,430 (GRCm39) |
R494W |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,660,969 (GRCm39) |
I1695T |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,458,858 (GRCm39) |
L3760P |
probably damaging |
Het |
| Dock1 |
A |
G |
7: 134,765,072 (GRCm39) |
D1688G |
possibly damaging |
Het |
| Drosha |
G |
A |
15: 12,889,742 (GRCm39) |
R870Q |
probably damaging |
Het |
| Dsg2 |
G |
T |
18: 20,713,675 (GRCm39) |
M215I |
probably benign |
Het |
| Dst |
A |
T |
1: 34,233,651 (GRCm39) |
D3453V |
possibly damaging |
Het |
| Epha10 |
A |
T |
4: 124,796,365 (GRCm39) |
Y358F |
|
Het |
| Ermp1 |
A |
T |
19: 29,590,054 (GRCm39) |
M853K |
probably benign |
Het |
| Hace1 |
T |
G |
10: 45,577,075 (GRCm39) |
I823S |
probably benign |
Het |
| Hectd3 |
A |
T |
4: 116,853,785 (GRCm39) |
Y227F |
probably benign |
Het |
| Hells |
A |
G |
19: 38,945,501 (GRCm39) |
N580S |
probably benign |
Het |
| Igkv12-44 |
A |
G |
6: 69,791,718 (GRCm39) |
F82L |
probably damaging |
Het |
| Inpp5d |
A |
G |
1: 87,623,122 (GRCm39) |
D405G |
probably damaging |
Het |
| Itsn2 |
G |
A |
12: 4,758,198 (GRCm39) |
R1508H |
probably benign |
Het |
| Limk1 |
A |
T |
5: 134,686,825 (GRCm39) |
|
probably null |
Het |
| Lingo1 |
T |
A |
9: 56,528,167 (GRCm39) |
K147* |
probably null |
Het |
| Ltn1 |
T |
C |
16: 87,194,787 (GRCm39) |
S1371G |
probably benign |
Het |
| Mab21l1 |
A |
G |
3: 55,691,307 (GRCm39) |
D298G |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,366,082 (GRCm39) |
V2893E |
probably benign |
Het |
| Mapk8ip1 |
T |
C |
2: 92,219,489 (GRCm39) |
D114G |
probably benign |
Het |
| Med15 |
A |
T |
16: 17,540,729 (GRCm39) |
W6R |
probably benign |
Het |
| Mrps34 |
T |
C |
17: 25,114,431 (GRCm39) |
L97P |
probably damaging |
Het |
| Myrfl |
A |
T |
10: 116,697,417 (GRCm39) |
F36I |
possibly damaging |
Het |
| Nifk |
G |
A |
1: 118,260,204 (GRCm39) |
S253N |
probably damaging |
Het |
| Nmnat1 |
T |
A |
4: 149,557,758 (GRCm39) |
T95S |
probably damaging |
Het |
| Oasl1 |
T |
A |
5: 115,073,985 (GRCm39) |
I298N |
probably damaging |
Het |
| Or51a8 |
A |
G |
7: 102,549,760 (GRCm39) |
Y62C |
probably benign |
Het |
| Or56b35 |
T |
G |
7: 104,963,712 (GRCm39) |
L167R |
probably damaging |
Het |
| Or8g37 |
A |
T |
9: 39,731,423 (GRCm39) |
M163L |
probably benign |
Het |
| Polr2b |
C |
T |
5: 77,468,913 (GRCm39) |
R230* |
probably null |
Het |
| Prkra |
T |
A |
2: 76,477,545 (GRCm39) |
E53D |
probably benign |
Het |
| Rasgrp4 |
T |
A |
7: 28,845,405 (GRCm39) |
L376Q |
probably damaging |
Het |
| Rwdd3 |
A |
G |
3: 120,964,961 (GRCm39) |
S65P |
probably benign |
Het |
| Satb1 |
G |
A |
17: 52,090,029 (GRCm39) |
P273S |
probably damaging |
Het |
| Scg3 |
T |
C |
9: 75,589,374 (GRCm39) |
E93G |
probably damaging |
Het |
| Sf3a1 |
T |
C |
11: 4,117,724 (GRCm39) |
F162S |
possibly damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,250,701 (GRCm39) |
Y377H |
probably damaging |
Het |
| Sptbn4 |
G |
A |
7: 27,108,439 (GRCm39) |
A661V |
possibly damaging |
Het |
| Stk36 |
A |
G |
1: 74,673,479 (GRCm39) |
N996S |
unknown |
Het |
| Tbca |
A |
T |
13: 94,968,923 (GRCm39) |
I37F |
probably damaging |
Het |
| Tc2n |
A |
T |
12: 101,672,716 (GRCm39) |
V75E |
probably damaging |
Het |
| Tdrkh |
A |
T |
3: 94,333,263 (GRCm39) |
S243C |
probably damaging |
Het |
| Tjp1 |
T |
C |
7: 64,964,438 (GRCm39) |
D911G |
probably damaging |
Het |
| Tmbim6 |
A |
G |
15: 99,299,324 (GRCm39) |
|
probably benign |
Het |
| Tob1 |
T |
A |
11: 94,104,708 (GRCm39) |
D81E |
probably benign |
Het |
| Ttpal |
T |
A |
2: 163,448,945 (GRCm39) |
|
probably null |
Het |
| Usp37 |
A |
T |
1: 74,534,787 (GRCm39) |
|
probably null |
Het |
| Vmn1r235 |
A |
G |
17: 21,482,658 (GRCm39) |
I328V |
probably benign |
Het |
| Vmn1r28 |
T |
A |
6: 58,242,850 (GRCm39) |
L231* |
probably null |
Het |
| Zc3h7b |
A |
G |
15: 81,664,682 (GRCm39) |
T514A |
probably damaging |
Het |
| Zfp524 |
A |
G |
7: 5,021,200 (GRCm39) |
I243V |
probably benign |
Het |
| Zfp655 |
T |
A |
5: 145,181,542 (GRCm39) |
Y467N |
possibly damaging |
Het |
| Zfp985 |
A |
T |
4: 147,667,388 (GRCm39) |
K85N |
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 |
|
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 |
|
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'- CAACGAGTTGCACTGACATCC -3'
(R):5'- TGAGACCAAGCCACTGGATG -3'
Sequencing Primer
(F):5'- TTGCACTGACATCCGGCAG -3'
(R):5'- AAGCCACTGGATGCGCTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation