Incidental Mutation 'R5226:Ppfia4'
| ID |
402597 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppfia4
|
| Ensembl Gene |
ENSMUSG00000026458 |
| Gene Name |
protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 |
| Synonyms |
Liprin-alpha4, 1110008G13Rik, Gm3812, LOC100042382 |
| MMRRC Submission |
042799-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R5226 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
134224521-134260666 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 134232024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139833
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168515]
[ENSMUST00000186730]
[ENSMUST00000186730]
[ENSMUST00000189361]
[ENSMUST00000189361]
|
| AlphaFold |
B8QI36 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000168515
|
| SMART Domains |
Protein: ENSMUSP00000128314
Gene: ENSMUSG00000026458
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
22 |
127 |
N/A |
INTRINSIC |
|
coiled coil region
|
225 |
474 |
N/A |
INTRINSIC |
|
coiled coil region
|
567 |
611 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
645 |
N/A |
INTRINSIC |
|
low complexity region
|
731 |
744 |
N/A |
INTRINSIC |
|
SAM
|
826 |
895 |
1.17e-9 |
SMART |
|
SAM
|
941 |
1008 |
1.69e-6 |
SMART |
|
SAM
|
1029 |
1101 |
4.87e-7 |
SMART |
|
low complexity region
|
1154 |
1167 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186553
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000186730
|
| SMART Domains |
Protein: ENSMUSP00000139800
Gene: ENSMUSG00000026458
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
191 |
N/A |
INTRINSIC |
|
coiled coil region
|
284 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
346 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
448 |
461 |
N/A |
INTRINSIC |
|
SAM
|
543 |
612 |
7e-12 |
SMART |
|
SAM
|
649 |
716 |
1e-8 |
SMART |
|
SAM
|
737 |
809 |
2.8e-9 |
SMART |
|
low complexity region
|
862 |
875 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000186730
|
| SMART Domains |
Protein: ENSMUSP00000139800
Gene: ENSMUSG00000026458
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
191 |
N/A |
INTRINSIC |
|
coiled coil region
|
284 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
346 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
448 |
461 |
N/A |
INTRINSIC |
|
SAM
|
543 |
612 |
7e-12 |
SMART |
|
SAM
|
649 |
716 |
1e-8 |
SMART |
|
SAM
|
737 |
809 |
2.8e-9 |
SMART |
|
low complexity region
|
862 |
875 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186964
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189361
|
| SMART Domains |
Protein: ENSMUSP00000139833
Gene: ENSMUSG00000026458
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
22 |
127 |
N/A |
INTRINSIC |
|
coiled coil region
|
225 |
474 |
N/A |
INTRINSIC |
|
coiled coil region
|
567 |
611 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
645 |
N/A |
INTRINSIC |
|
low complexity region
|
731 |
744 |
N/A |
INTRINSIC |
|
SAM
|
826 |
895 |
7e-12 |
SMART |
|
SAM
|
941 |
1008 |
1e-8 |
SMART |
|
SAM
|
1029 |
1101 |
2.8e-9 |
SMART |
|
low complexity region
|
1154 |
1167 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189361
|
| SMART Domains |
Protein: ENSMUSP00000139833
Gene: ENSMUSG00000026458
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
22 |
127 |
N/A |
INTRINSIC |
|
coiled coil region
|
225 |
474 |
N/A |
INTRINSIC |
|
coiled coil region
|
567 |
611 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
645 |
N/A |
INTRINSIC |
|
low complexity region
|
731 |
744 |
N/A |
INTRINSIC |
|
SAM
|
826 |
895 |
7e-12 |
SMART |
|
SAM
|
941 |
1008 |
1e-8 |
SMART |
|
SAM
|
1029 |
1101 |
2.8e-9 |
SMART |
|
low complexity region
|
1154 |
1167 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189862
|
| Meta Mutation Damage Score |
0.9592 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
C |
9: 124,056,706 (GRCm39) |
K98E |
possibly damaging |
Het |
| 4933414I15Rik |
A |
T |
11: 50,833,416 (GRCm39) |
M62K |
unknown |
Het |
| Akr1d1 |
T |
A |
6: 37,512,949 (GRCm39) |
|
probably null |
Het |
| Ankrd63 |
T |
C |
2: 118,533,736 (GRCm39) |
|
probably benign |
Het |
| Atad5 |
T |
C |
11: 79,985,888 (GRCm39) |
V325A |
probably damaging |
Het |
| Atp13a5 |
G |
T |
16: 29,067,031 (GRCm39) |
N1025K |
probably damaging |
Het |
| Atrnl1 |
G |
T |
19: 57,638,767 (GRCm39) |
V302L |
probably benign |
Het |
| Bend7 |
C |
A |
2: 4,757,789 (GRCm39) |
S277* |
probably null |
Het |
| Btnl7-ps |
A |
T |
17: 34,752,261 (GRCm39) |
|
noncoding transcript |
Het |
| Cbx4 |
T |
C |
11: 118,972,754 (GRCm39) |
Y207C |
probably damaging |
Het |
| Ctla2b |
C |
T |
13: 61,044,146 (GRCm39) |
W63* |
probably null |
Het |
| Cux1 |
T |
C |
5: 136,399,027 (GRCm39) |
T170A |
probably benign |
Het |
| Cyp3a57 |
T |
C |
5: 145,302,507 (GRCm39) |
V101A |
probably benign |
Het |
| Dao |
A |
T |
5: 114,159,094 (GRCm39) |
T267S |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,370,746 (GRCm39) |
D883G |
probably damaging |
Het |
| Dynlt4 |
A |
G |
4: 116,985,290 (GRCm39) |
T38A |
possibly damaging |
Het |
| Eif4g3 |
C |
A |
4: 137,824,105 (GRCm39) |
P36T |
possibly damaging |
Het |
| Elf3 |
G |
A |
1: 135,184,977 (GRCm39) |
L70F |
probably benign |
Het |
| Epb41l4a |
C |
T |
18: 33,943,366 (GRCm39) |
D510N |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,726,126 (GRCm39) |
S594P |
probably benign |
Het |
| Gm10722 |
T |
C |
9: 3,000,937 (GRCm39) |
C6R |
probably benign |
Het |
| Gpr132 |
T |
C |
12: 112,815,768 (GRCm39) |
T353A |
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,932,235 (GRCm39) |
D1343G |
probably benign |
Het |
| L3mbtl4 |
T |
A |
17: 69,071,717 (GRCm39) |
|
probably null |
Het |
| Lrit2 |
A |
G |
14: 36,794,310 (GRCm39) |
E458G |
probably damaging |
Het |
| Man1c1 |
A |
T |
4: 134,305,680 (GRCm39) |
I348N |
probably damaging |
Het |
| Map4k2 |
A |
G |
19: 6,396,534 (GRCm39) |
|
probably benign |
Het |
| Nt5c2 |
A |
C |
19: 46,887,068 (GRCm39) |
Y203D |
probably damaging |
Het |
| Oxgr1 |
A |
G |
14: 120,259,665 (GRCm39) |
S181P |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,443,416 (GRCm39) |
C400R |
probably benign |
Het |
| Pcdhgb7 |
T |
C |
18: 37,885,577 (GRCm39) |
V249A |
probably benign |
Het |
| Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
| Plcg2 |
A |
T |
8: 118,304,613 (GRCm39) |
I273F |
possibly damaging |
Het |
| Plin1 |
A |
G |
7: 79,372,447 (GRCm39) |
V64A |
probably damaging |
Het |
| Prkg2 |
A |
C |
5: 99,124,321 (GRCm39) |
D376E |
possibly damaging |
Het |
| Ptgir |
T |
A |
7: 16,642,645 (GRCm39) |
I82N |
probably damaging |
Het |
| Pum2 |
C |
T |
12: 8,763,458 (GRCm39) |
P205L |
possibly damaging |
Het |
| Rab26 |
T |
A |
17: 24,753,107 (GRCm39) |
|
probably benign |
Het |
| Recql4 |
T |
C |
15: 76,594,329 (GRCm39) |
E63G |
probably benign |
Het |
| Rora |
T |
A |
9: 69,271,423 (GRCm39) |
|
probably benign |
Het |
| Rp1 |
A |
C |
1: 4,418,256 (GRCm39) |
M952R |
probably benign |
Het |
| Rpap3 |
T |
A |
15: 97,601,104 (GRCm39) |
R44S |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc12a2 |
C |
A |
18: 58,012,092 (GRCm39) |
P72T |
probably damaging |
Het |
| Slc1a3 |
C |
T |
15: 8,671,709 (GRCm39) |
V416M |
probably damaging |
Het |
| Slfn4 |
A |
T |
11: 83,078,375 (GRCm39) |
M388L |
possibly damaging |
Het |
| Snrnp48 |
G |
A |
13: 38,389,093 (GRCm39) |
A49T |
probably benign |
Het |
| Tlx2 |
C |
T |
6: 83,045,911 (GRCm39) |
G228D |
possibly damaging |
Het |
| Tmem132a |
A |
G |
19: 10,844,508 (GRCm39) |
V30A |
possibly damaging |
Het |
| Tnfrsf23 |
C |
A |
7: 143,239,522 (GRCm39) |
L24F |
possibly damaging |
Het |
| Ubr2 |
A |
T |
17: 47,294,196 (GRCm39) |
N312K |
probably benign |
Het |
| Vmn1r115 |
C |
T |
7: 20,578,169 (GRCm39) |
V248I |
probably damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,029,874 (GRCm39) |
T567A |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,852,835 (GRCm39) |
T2372A |
probably benign |
Het |
| Wnt10b |
G |
T |
15: 98,674,495 (GRCm39) |
H81N |
probably damaging |
Het |
| Zfp948 |
A |
G |
17: 21,808,505 (GRCm39) |
T566A |
probably benign |
Het |
|
| Other mutations in Ppfia4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01371:Ppfia4
|
APN |
1 |
134,255,824 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01935:Ppfia4
|
APN |
1 |
134,245,674 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02008:Ppfia4
|
APN |
1 |
134,260,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0037:Ppfia4
|
UTSW |
1 |
134,251,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0084:Ppfia4
|
UTSW |
1 |
134,227,164 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0108:Ppfia4
|
UTSW |
1 |
134,251,955 (GRCm39) |
splice site |
probably null |
|
|
R0109:Ppfia4
|
UTSW |
1 |
134,251,955 (GRCm39) |
splice site |
probably null |
|
|
R0109:Ppfia4
|
UTSW |
1 |
134,251,955 (GRCm39) |
splice site |
probably null |
|
|
R0238:Ppfia4
|
UTSW |
1 |
134,256,927 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0238:Ppfia4
|
UTSW |
1 |
134,256,927 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0239:Ppfia4
|
UTSW |
1 |
134,256,927 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0239:Ppfia4
|
UTSW |
1 |
134,256,927 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0254:Ppfia4
|
UTSW |
1 |
134,251,962 (GRCm39) |
splice site |
probably benign |
|
|
R0445:Ppfia4
|
UTSW |
1 |
134,255,027 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0504:Ppfia4
|
UTSW |
1 |
134,251,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0617:Ppfia4
|
UTSW |
1 |
134,256,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0839:Ppfia4
|
UTSW |
1 |
134,256,545 (GRCm39) |
missense |
probably null |
1.00 |
|
R0849:Ppfia4
|
UTSW |
1 |
134,247,110 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0898:Ppfia4
|
UTSW |
1 |
134,248,864 (GRCm39) |
missense |
probably benign |
|
|
R1173:Ppfia4
|
UTSW |
1 |
134,260,021 (GRCm39) |
splice site |
probably benign |
|
|
R1728:Ppfia4
|
UTSW |
1 |
134,227,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1729:Ppfia4
|
UTSW |
1 |
134,227,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1730:Ppfia4
|
UTSW |
1 |
134,227,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1762:Ppfia4
|
UTSW |
1 |
134,227,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1783:Ppfia4
|
UTSW |
1 |
134,227,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1784:Ppfia4
|
UTSW |
1 |
134,227,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1785:Ppfia4
|
UTSW |
1 |
134,227,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1812:Ppfia4
|
UTSW |
1 |
134,252,311 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2148:Ppfia4
|
UTSW |
1 |
134,240,372 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2160:Ppfia4
|
UTSW |
1 |
134,241,461 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2308:Ppfia4
|
UTSW |
1 |
134,260,135 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2421:Ppfia4
|
UTSW |
1 |
134,255,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3694:Ppfia4
|
UTSW |
1 |
134,240,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3707:Ppfia4
|
UTSW |
1 |
134,237,398 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3708:Ppfia4
|
UTSW |
1 |
134,237,398 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3725:Ppfia4
|
UTSW |
1 |
134,241,449 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3964:Ppfia4
|
UTSW |
1 |
134,250,754 (GRCm39) |
missense |
probably benign |
|
|
R4889:Ppfia4
|
UTSW |
1 |
134,228,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4909:Ppfia4
|
UTSW |
1 |
134,260,239 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4939:Ppfia4
|
UTSW |
1 |
134,255,817 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5433:Ppfia4
|
UTSW |
1 |
134,245,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5576:Ppfia4
|
UTSW |
1 |
134,250,788 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5727:Ppfia4
|
UTSW |
1 |
134,251,815 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5793:Ppfia4
|
UTSW |
1 |
134,239,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6193:Ppfia4
|
UTSW |
1 |
134,251,899 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6216:Ppfia4
|
UTSW |
1 |
134,256,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6679:Ppfia4
|
UTSW |
1 |
134,237,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6742:Ppfia4
|
UTSW |
1 |
134,256,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7039:Ppfia4
|
UTSW |
1 |
134,239,853 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7206:Ppfia4
|
UTSW |
1 |
134,255,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7259:Ppfia4
|
UTSW |
1 |
134,240,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7454:Ppfia4
|
UTSW |
1 |
134,251,873 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8139:Ppfia4
|
UTSW |
1 |
134,228,266 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8878:Ppfia4
|
UTSW |
1 |
134,227,122 (GRCm39) |
missense |
|
|
|
R8970:Ppfia4
|
UTSW |
1 |
134,252,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9065:Ppfia4
|
UTSW |
1 |
134,251,893 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9087:Ppfia4
|
UTSW |
1 |
134,240,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9187:Ppfia4
|
UTSW |
1 |
134,255,006 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9308:Ppfia4
|
UTSW |
1 |
134,245,556 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9424:Ppfia4
|
UTSW |
1 |
134,247,044 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9522:Ppfia4
|
UTSW |
1 |
134,240,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9687:Ppfia4
|
UTSW |
1 |
134,245,694 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Ppfia4
|
UTSW |
1 |
134,255,117 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTCTACGAGCACACCAGTCC -3'
(R):5'- ATCCTCTGTGGTGCATGCAG -3'
Sequencing Primer
(F):5'- CACAGCACCATCAGAGGGGTC -3'
(R):5'- ACTGTACCCACTATGGCTGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation