Incidental Mutation 'R3902:Pira1'
ID |
474504 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pira1
|
Ensembl Gene |
|
Gene Name |
paired-Ig-like receptor A1 |
Synonyms |
Gm15922, PIR-A1, Ly89, 6M21, Gm15922, Pir |
MMRRC Submission |
040811-MU
|
Accession Numbers |
|
Essential gene? |
Not available
|
Stock # |
R3902 (G1)
|
Quality Score |
168 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
3734629-3742888 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 3740276 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 315
(T315I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145713
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118068]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000118068
AA Change: T315I
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atmin |
A |
G |
8: 117,683,036 (GRCm39) |
N232S |
probably benign |
Het |
Brat1 |
A |
C |
5: 140,703,751 (GRCm39) |
D668A |
possibly damaging |
Het |
Eif2b3 |
C |
T |
4: 116,879,404 (GRCm39) |
R15W |
probably damaging |
Het |
Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
F5 |
A |
G |
1: 164,003,798 (GRCm39) |
T198A |
probably benign |
Het |
Fbxl20 |
T |
A |
11: 97,987,861 (GRCm39) |
T61S |
probably benign |
Het |
Fry |
A |
G |
5: 150,269,392 (GRCm39) |
E211G |
probably damaging |
Het |
Gatd1 |
A |
G |
7: 140,989,014 (GRCm39) |
L215P |
probably damaging |
Het |
Gys2 |
A |
G |
6: 142,418,526 (GRCm39) |
M1T |
probably null |
Het |
Hacd4 |
A |
C |
4: 88,355,738 (GRCm39) |
I49R |
probably damaging |
Het |
Jph3 |
G |
T |
8: 122,480,158 (GRCm39) |
D279Y |
possibly damaging |
Het |
Klhl26 |
T |
C |
8: 70,905,016 (GRCm39) |
D217G |
probably damaging |
Het |
Kmt2e |
A |
G |
5: 23,706,640 (GRCm39) |
N1401S |
probably benign |
Het |
Mettl21a |
C |
T |
1: 64,647,240 (GRCm39) |
V106I |
probably benign |
Het |
Mpdz |
A |
G |
4: 81,225,353 (GRCm39) |
V1427A |
probably damaging |
Het |
Mug2 |
A |
T |
6: 122,052,526 (GRCm39) |
D1024V |
probably damaging |
Het |
Myl7 |
T |
A |
11: 5,848,430 (GRCm39) |
K38M |
probably damaging |
Het |
Myl7 |
T |
G |
11: 5,848,431 (GRCm39) |
K38Q |
probably damaging |
Het |
Myom2 |
T |
C |
8: 15,154,165 (GRCm39) |
V701A |
probably benign |
Het |
Nipbl |
A |
G |
15: 8,379,730 (GRCm39) |
S1021P |
possibly damaging |
Het |
Optc |
A |
G |
1: 133,825,701 (GRCm39) |
M275T |
probably benign |
Het |
Pclo |
A |
T |
5: 14,762,536 (GRCm39) |
T385S |
probably benign |
Het |
Pdgfra |
T |
A |
5: 75,353,169 (GRCm39) |
N986K |
probably benign |
Het |
Plekhn1 |
T |
A |
4: 156,310,126 (GRCm39) |
I63F |
possibly damaging |
Het |
Pogk |
C |
T |
1: 166,231,193 (GRCm39) |
V45I |
probably damaging |
Het |
Rassf1 |
A |
G |
9: 107,432,039 (GRCm39) |
Y21C |
probably damaging |
Het |
Slc12a1 |
A |
T |
2: 125,030,113 (GRCm39) |
I562F |
probably damaging |
Het |
Slc16a6 |
A |
G |
11: 109,349,387 (GRCm39) |
S141P |
probably damaging |
Het |
Sntn |
T |
C |
14: 13,679,084 (GRCm38) |
L86P |
probably damaging |
Het |
Styx-ps |
A |
G |
X: 67,865,253 (GRCm39) |
M101V |
probably benign |
Het |
Taar4 |
T |
A |
10: 23,836,913 (GRCm39) |
N174K |
probably damaging |
Het |
Trav12-3 |
G |
T |
14: 53,859,486 (GRCm39) |
C44F |
probably damaging |
Het |
Triml2 |
A |
G |
8: 43,643,397 (GRCm39) |
R240G |
probably benign |
Het |
Vmn1r3 |
A |
G |
4: 3,185,241 (GRCm39) |
M22T |
probably benign |
Het |
Vmn2r7 |
C |
A |
3: 64,626,937 (GRCm39) |
Q26H |
possibly damaging |
Het |
Vmn2r72 |
T |
C |
7: 85,398,943 (GRCm39) |
D470G |
possibly damaging |
Het |
Xpo6 |
A |
G |
7: 125,719,581 (GRCm39) |
Y602H |
probably damaging |
Het |
Zfp287 |
T |
C |
11: 62,603,028 (GRCm39) |
T241A |
probably benign |
Het |
Zfp386 |
A |
G |
12: 116,023,775 (GRCm39) |
K498E |
probably damaging |
Het |
Zzef1 |
T |
C |
11: 72,799,326 (GRCm39) |
L2392P |
probably damaging |
Het |
|
Other mutations in Pira1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R1514:Pira1
|
UTSW |
7 |
3,742,639 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4246:Pira1
|
UTSW |
7 |
3,740,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R5125:Pira1
|
UTSW |
7 |
3,742,396 (GRCm39) |
nonsense |
probably null |
|
R5178:Pira1
|
UTSW |
7 |
3,742,396 (GRCm39) |
nonsense |
probably null |
|
R5388:Pira1
|
UTSW |
7 |
3,741,856 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5471:Pira1
|
UTSW |
7 |
3,738,514 (GRCm39) |
missense |
probably benign |
0.02 |
R5985:Pira1
|
UTSW |
7 |
3,740,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R6248:Pira1
|
UTSW |
7 |
3,739,337 (GRCm39) |
missense |
probably benign |
|
R6360:Pira1
|
UTSW |
7 |
3,739,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R6451:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R6453:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R6454:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R6455:Pira1
|
UTSW |
7 |
3,741,930 (GRCm39) |
missense |
probably benign |
0.00 |
R6594:Pira1
|
UTSW |
7 |
3,739,498 (GRCm39) |
nonsense |
probably null |
|
R6654:Pira1
|
UTSW |
7 |
3,738,928 (GRCm39) |
missense |
probably benign |
0.19 |
R6813:Pira1
|
UTSW |
7 |
3,739,002 (GRCm39) |
missense |
probably benign |
0.03 |
R6972:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R6975:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R7069:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R7072:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R7188:Pira1
|
UTSW |
7 |
3,741,828 (GRCm39) |
missense |
probably damaging |
0.99 |
R7304:Pira1
|
UTSW |
7 |
3,740,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R7329:Pira1
|
UTSW |
7 |
3,742,875 (GRCm39) |
start gained |
probably benign |
|
R7404:Pira1
|
UTSW |
7 |
3,742,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R7454:Pira1
|
UTSW |
7 |
3,738,509 (GRCm39) |
missense |
probably benign |
0.03 |
R7493:Pira1
|
UTSW |
7 |
3,742,023 (GRCm39) |
missense |
not run |
|
R7655:Pira1
|
UTSW |
7 |
3,742,281 (GRCm39) |
missense |
probably damaging |
0.98 |
R7656:Pira1
|
UTSW |
7 |
3,742,281 (GRCm39) |
missense |
probably damaging |
0.98 |
R7953:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R7956:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R7957:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R8037:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R8038:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R8043:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R8096:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R8117:Pira1
|
UTSW |
7 |
3,740,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R8128:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R8134:Pira1
|
UTSW |
7 |
3,738,838 (GRCm39) |
missense |
probably damaging |
0.99 |
R8142:Pira1
|
UTSW |
7 |
3,739,842 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8311:Pira1
|
UTSW |
7 |
3,739,482 (GRCm39) |
missense |
probably benign |
0.42 |
R8511:Pira1
|
UTSW |
7 |
3,742,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R8519:Pira1
|
UTSW |
7 |
3,740,432 (GRCm39) |
missense |
probably benign |
0.27 |
R8927:Pira1
|
UTSW |
7 |
3,742,358 (GRCm39) |
missense |
probably benign |
|
R8928:Pira1
|
UTSW |
7 |
3,742,358 (GRCm39) |
missense |
probably benign |
|
R9306:Pira1
|
UTSW |
7 |
3,740,360 (GRCm39) |
missense |
probably benign |
0.00 |
R9330:Pira1
|
UTSW |
7 |
3,742,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R9564:Pira1
|
UTSW |
7 |
3,742,646 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGAGTGTCATGTTCCCTCC -3'
(R):5'- TCTGTGATCACCTCCAAAAGAGC -3'
Sequencing Primer
(F):5'- TGTCACCACAGGGCTGG -3'
(R):5'- CATCTGGTGTCAGGGGAAC -3'
|
Posted On |
2017-04-14 |