Incidental Mutation 'R9229:Nlrp4e'
| ID |
700092 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp4e
|
| Ensembl Gene |
ENSMUSG00000045693 |
| Gene Name |
NLR family, pyrin domain containing 4E |
| Synonyms |
4930406H16Rik, Nalp4e, Nalp-epsilon |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9229 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
23000617-23061702 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23020799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 429
(S429T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076470]
|
| AlphaFold |
Q66X19 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076470
AA Change: S429T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: S429T
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
89 |
1.43e-35 |
SMART |
|
Pfam:NACHT
|
148 |
317 |
1.3e-39 |
PFAM |
|
LRR
|
689 |
716 |
1.87e1 |
SMART |
|
LRR
|
718 |
745 |
7.74e0 |
SMART |
|
LRR
|
746 |
772 |
2.5e1 |
SMART |
|
LRR
|
774 |
801 |
2.67e1 |
SMART |
|
LRR
|
802 |
829 |
6.48e-1 |
SMART |
|
LRR
|
831 |
858 |
2.03e0 |
SMART |
|
LRR
|
859 |
886 |
2.88e-6 |
SMART |
|
LRR
|
888 |
915 |
9.41e0 |
SMART |
|
LRR
|
916 |
943 |
1.02e2 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (77/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr10 |
A |
G |
12: 70,990,259 (GRCm39) |
T104A |
probably damaging |
Het |
| Agbl1 |
G |
A |
7: 76,774,270 (GRCm39) |
V1065I |
unknown |
Het |
| Agpat1 |
G |
T |
17: 34,830,663 (GRCm39) |
V196L |
probably null |
Het |
| Agxt2 |
T |
A |
15: 10,409,597 (GRCm39) |
V499E |
probably damaging |
Het |
| Amy2a1 |
T |
A |
3: 113,325,955 (GRCm39) |
|
probably benign |
Het |
| Ankrd35 |
A |
G |
3: 96,592,215 (GRCm39) |
T834A |
probably benign |
Het |
| Arhgef18 |
T |
A |
8: 3,479,314 (GRCm39) |
S51T |
probably benign |
Het |
| Armc12 |
A |
C |
17: 28,751,345 (GRCm39) |
D113A |
probably benign |
Het |
| Azin1 |
T |
A |
15: 38,490,646 (GRCm39) |
I436F |
probably benign |
Het |
| B3galnt2 |
T |
C |
13: 14,166,107 (GRCm39) |
V334A |
probably damaging |
Het |
| Ccdc68 |
C |
T |
18: 70,080,203 (GRCm39) |
H183Y |
probably benign |
Het |
| Cd180 |
TA |
TAA |
13: 102,841,514 (GRCm39) |
|
probably null |
Het |
| Cemip |
A |
T |
7: 83,606,833 (GRCm39) |
W795R |
probably damaging |
Het |
| Cenpj |
C |
T |
14: 56,802,176 (GRCm39) |
E130K |
possibly damaging |
Het |
| Ciao1 |
G |
C |
2: 127,089,062 (GRCm39) |
C52W |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,232,176 (GRCm39) |
S971P |
possibly damaging |
Het |
| Cnot2 |
A |
T |
10: 116,384,960 (GRCm39) |
L9* |
probably null |
Het |
| Coro1c |
G |
T |
5: 114,003,747 (GRCm39) |
H91N |
probably damaging |
Het |
| Crbn |
A |
T |
6: 106,777,017 (GRCm39) |
M1K |
probably null |
Het |
| Ctsb |
T |
A |
14: 63,373,112 (GRCm39) |
W90R |
probably damaging |
Het |
| Ctse |
A |
G |
1: 131,595,862 (GRCm39) |
I185V |
probably damaging |
Het |
| Dennd1b |
G |
T |
1: 138,981,100 (GRCm39) |
E105* |
probably null |
Het |
| Eif4a3l1 |
A |
G |
6: 136,306,141 (GRCm39) |
I201V |
possibly damaging |
Het |
| Exoc5 |
G |
A |
14: 49,251,710 (GRCm39) |
Q679* |
probably null |
Het |
| Firrm |
A |
T |
1: 163,794,659 (GRCm39) |
W512R |
probably damaging |
Het |
| Gabrg3 |
G |
A |
7: 56,374,268 (GRCm39) |
R433C |
probably damaging |
Het |
| Gria2 |
C |
A |
3: 80,709,689 (GRCm39) |
M1I |
probably null |
Het |
| H1f6 |
T |
C |
13: 23,880,029 (GRCm39) |
S61P |
probably damaging |
Het |
| Hoxb6 |
A |
T |
11: 96,191,645 (GRCm39) |
Q189L |
probably damaging |
Het |
| Hoxd10 |
A |
G |
2: 74,524,600 (GRCm39) |
N304S |
possibly damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Htra4 |
A |
T |
8: 25,528,557 (GRCm39) |
C112S |
probably damaging |
Het |
| Ide |
T |
C |
19: 37,261,598 (GRCm39) |
T715A |
|
Het |
| Ipo13 |
A |
T |
4: 117,758,801 (GRCm39) |
I688N |
probably damaging |
Het |
| Irs2 |
A |
C |
8: 11,057,400 (GRCm39) |
L344R |
probably damaging |
Het |
| Kat6a |
A |
G |
8: 23,429,987 (GRCm39) |
T1781A |
unknown |
Het |
| Lin7a |
G |
T |
10: 107,247,844 (GRCm39) |
V172L |
probably damaging |
Het |
| Lpcat1 |
G |
T |
13: 73,653,650 (GRCm39) |
E282D |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,063,584 (GRCm39) |
T963A |
probably benign |
Het |
| Mfsd14a |
G |
A |
3: 116,439,118 (GRCm39) |
A128V |
probably benign |
Het |
| Mfsd6 |
C |
G |
1: 52,747,903 (GRCm39) |
G321R |
probably damaging |
Het |
| Mill2 |
C |
T |
7: 18,590,475 (GRCm39) |
T185I |
probably damaging |
Het |
| Mpped1 |
C |
T |
15: 83,738,673 (GRCm39) |
T270I |
possibly damaging |
Het |
| Mrtfb |
G |
T |
16: 13,230,185 (GRCm39) |
A957S |
possibly damaging |
Het |
| Myh9 |
T |
A |
15: 77,675,017 (GRCm39) |
Y300F |
possibly damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,304,052 (GRCm39) |
T953S |
possibly damaging |
Het |
| Nphp3 |
T |
A |
9: 103,913,376 (GRCm39) |
Y1003N |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,310,339 (GRCm39) |
K1588R |
probably benign |
Het |
| Odad2 |
C |
A |
18: 7,127,324 (GRCm39) |
R963L |
possibly damaging |
Het |
| Or10ag56 |
G |
A |
2: 87,139,165 (GRCm39) |
V31I |
probably benign |
Het |
| Or5b124 |
T |
A |
19: 13,611,414 (GRCm39) |
V313D |
probably damaging |
Het |
| Pam |
A |
G |
1: 97,753,660 (GRCm39) |
V870A |
probably benign |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pierce1 |
C |
A |
2: 28,352,390 (GRCm39) |
M124I |
probably damaging |
Het |
| Plin3 |
A |
T |
17: 56,591,315 (GRCm39) |
V155E |
probably damaging |
Het |
| Pmepa1 |
T |
C |
2: 173,117,962 (GRCm39) |
T6A |
probably benign |
Het |
| Pnpla7 |
G |
A |
2: 24,873,503 (GRCm39) |
V170I |
probably damaging |
Het |
| Pramel34 |
A |
T |
5: 93,784,089 (GRCm39) |
C458* |
probably null |
Het |
| Ptprz1 |
A |
G |
6: 22,986,283 (GRCm39) |
H361R |
probably null |
Het |
| Pvalb |
T |
A |
15: 78,086,767 (GRCm39) |
I50F |
possibly damaging |
Het |
| Relch |
A |
T |
1: 105,614,709 (GRCm39) |
I218F |
possibly damaging |
Het |
| Rhag |
G |
A |
17: 41,142,081 (GRCm39) |
A175T |
probably damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,200,983 (GRCm39) |
V291A |
possibly damaging |
Het |
| Slc9b2 |
G |
A |
3: 135,042,295 (GRCm39) |
E525K |
probably benign |
Het |
| Smg7 |
A |
G |
1: 152,720,971 (GRCm39) |
F747S |
possibly damaging |
Het |
| Sorcs1 |
T |
G |
19: 50,141,300 (GRCm39) |
I1144L |
probably benign |
Het |
| Sox1 |
A |
T |
8: 12,447,390 (GRCm39) |
I344F |
possibly damaging |
Het |
| Speer4e2 |
A |
T |
5: 15,027,718 (GRCm39) |
S53T |
probably benign |
Het |
| Spta1 |
A |
T |
1: 174,067,750 (GRCm39) |
E2059V |
probably damaging |
Het |
| Sva |
T |
A |
6: 42,017,050 (GRCm39) |
N52K |
possibly damaging |
Het |
| Sva |
T |
A |
6: 42,017,052 (GRCm39) |
M53K |
probably benign |
Het |
| Thsd7b |
A |
G |
1: 129,849,027 (GRCm39) |
Y913C |
probably damaging |
Het |
| Tiam1 |
A |
G |
16: 89,634,719 (GRCm39) |
S864P |
possibly damaging |
Het |
| Tma16 |
A |
G |
8: 66,936,779 (GRCm39) |
V16A |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Treml1 |
A |
G |
17: 48,673,774 (GRCm39) |
S262G |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,597,797 (GRCm39) |
D19705E |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,594,239 (GRCm39) |
L2162P |
possibly damaging |
Het |
| Vmn2r60 |
A |
G |
7: 41,791,723 (GRCm39) |
I549V |
possibly damaging |
Het |
| Xpo4 |
T |
C |
14: 57,851,156 (GRCm39) |
N329S |
probably benign |
Het |
| Zfp879 |
T |
A |
11: 50,723,886 (GRCm39) |
H390L |
probably damaging |
Het |
| Zranb1 |
C |
T |
7: 132,583,117 (GRCm39) |
S512F |
probably damaging |
Het |
| Zswim8 |
A |
G |
14: 20,766,393 (GRCm39) |
H847R |
probably benign |
Het |
|
| Other mutations in Nlrp4e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00704:Nlrp4e
|
APN |
7 |
23,042,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00833:Nlrp4e
|
APN |
7 |
23,039,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01017:Nlrp4e
|
APN |
7 |
23,021,092 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01025:Nlrp4e
|
APN |
7 |
23,052,586 (GRCm39) |
splice site |
probably benign |
|
|
IGL01815:Nlrp4e
|
APN |
7 |
23,020,863 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01924:Nlrp4e
|
APN |
7 |
23,020,255 (GRCm39) |
nonsense |
probably null |
|
|
IGL02245:Nlrp4e
|
APN |
7 |
23,020,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02745:Nlrp4e
|
APN |
7 |
23,020,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02746:Nlrp4e
|
APN |
7 |
23,021,264 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02987:Nlrp4e
|
APN |
7 |
23,000,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02997:Nlrp4e
|
APN |
7 |
23,000,799 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03193:Nlrp4e
|
APN |
7 |
23,020,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03304:Nlrp4e
|
APN |
7 |
23,052,768 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03352:Nlrp4e
|
APN |
7 |
23,020,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0389:Nlrp4e
|
UTSW |
7 |
23,054,628 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1028:Nlrp4e
|
UTSW |
7 |
23,021,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1163:Nlrp4e
|
UTSW |
7 |
23,020,397 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1269:Nlrp4e
|
UTSW |
7 |
23,052,763 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1400:Nlrp4e
|
UTSW |
7 |
23,021,085 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1497:Nlrp4e
|
UTSW |
7 |
23,019,797 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1518:Nlrp4e
|
UTSW |
7 |
23,021,268 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1716:Nlrp4e
|
UTSW |
7 |
23,020,458 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1727:Nlrp4e
|
UTSW |
7 |
23,020,420 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1998:Nlrp4e
|
UTSW |
7 |
23,020,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2177:Nlrp4e
|
UTSW |
7 |
23,054,686 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3724:Nlrp4e
|
UTSW |
7 |
23,020,802 (GRCm39) |
missense |
probably benign |
0.28 |
|
R3767:Nlrp4e
|
UTSW |
7 |
23,039,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3795:Nlrp4e
|
UTSW |
7 |
23,020,228 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4387:Nlrp4e
|
UTSW |
7 |
23,020,652 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4387:Nlrp4e
|
UTSW |
7 |
23,000,902 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4388:Nlrp4e
|
UTSW |
7 |
23,020,652 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4388:Nlrp4e
|
UTSW |
7 |
23,000,902 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4389:Nlrp4e
|
UTSW |
7 |
23,020,652 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4403:Nlrp4e
|
UTSW |
7 |
23,020,888 (GRCm39) |
nonsense |
probably null |
|
|
R4444:Nlrp4e
|
UTSW |
7 |
23,020,652 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4486:Nlrp4e
|
UTSW |
7 |
23,020,652 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4547:Nlrp4e
|
UTSW |
7 |
23,036,291 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4553:Nlrp4e
|
UTSW |
7 |
23,020,404 (GRCm39) |
missense |
probably benign |
|
|
R4666:Nlrp4e
|
UTSW |
7 |
23,036,205 (GRCm39) |
nonsense |
probably null |
|
|
R4721:Nlrp4e
|
UTSW |
7 |
23,020,521 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4728:Nlrp4e
|
UTSW |
7 |
23,020,989 (GRCm39) |
missense |
probably benign |
|
|
R4758:Nlrp4e
|
UTSW |
7 |
23,020,043 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4775:Nlrp4e
|
UTSW |
7 |
23,042,525 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4830:Nlrp4e
|
UTSW |
7 |
23,036,165 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4954:Nlrp4e
|
UTSW |
7 |
23,061,318 (GRCm39) |
nonsense |
probably null |
|
|
R5277:Nlrp4e
|
UTSW |
7 |
23,020,863 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5352:Nlrp4e
|
UTSW |
7 |
23,052,598 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5521:Nlrp4e
|
UTSW |
7 |
23,021,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5528:Nlrp4e
|
UTSW |
7 |
23,036,316 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5537:Nlrp4e
|
UTSW |
7 |
23,019,914 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5584:Nlrp4e
|
UTSW |
7 |
23,020,602 (GRCm39) |
missense |
probably benign |
|
|
R5683:Nlrp4e
|
UTSW |
7 |
23,052,697 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6160:Nlrp4e
|
UTSW |
7 |
23,020,731 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6313:Nlrp4e
|
UTSW |
7 |
23,052,597 (GRCm39) |
missense |
probably benign |
|
|
R6427:Nlrp4e
|
UTSW |
7 |
23,020,058 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6647:Nlrp4e
|
UTSW |
7 |
23,020,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6929:Nlrp4e
|
UTSW |
7 |
23,036,156 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7307:Nlrp4e
|
UTSW |
7 |
23,020,953 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7792:Nlrp4e
|
UTSW |
7 |
23,021,182 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8169:Nlrp4e
|
UTSW |
7 |
23,019,931 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8445:Nlrp4e
|
UTSW |
7 |
23,039,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8487:Nlrp4e
|
UTSW |
7 |
23,020,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8906:Nlrp4e
|
UTSW |
7 |
23,020,556 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9124:Nlrp4e
|
UTSW |
7 |
23,020,403 (GRCm39) |
missense |
probably benign |
|
|
R9167:Nlrp4e
|
UTSW |
7 |
23,039,951 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9181:Nlrp4e
|
UTSW |
7 |
23,061,270 (GRCm39) |
nonsense |
probably null |
|
|
R9219:Nlrp4e
|
UTSW |
7 |
23,020,941 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9321:Nlrp4e
|
UTSW |
7 |
23,020,755 (GRCm39) |
missense |
probably benign |
|
|
R9323:Nlrp4e
|
UTSW |
7 |
23,020,755 (GRCm39) |
missense |
probably benign |
|
|
R9325:Nlrp4e
|
UTSW |
7 |
23,020,755 (GRCm39) |
missense |
probably benign |
|
|
R9379:Nlrp4e
|
UTSW |
7 |
23,020,755 (GRCm39) |
missense |
probably benign |
|
|
R9380:Nlrp4e
|
UTSW |
7 |
23,020,755 (GRCm39) |
missense |
probably benign |
|
|
R9448:Nlrp4e
|
UTSW |
7 |
23,000,956 (GRCm39) |
missense |
probably benign |
|
|
R9523:Nlrp4e
|
UTSW |
7 |
23,054,636 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9593:Nlrp4e
|
UTSW |
7 |
23,020,197 (GRCm39) |
missense |
probably benign |
0.19 |
|
X0022:Nlrp4e
|
UTSW |
7 |
23,042,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Nlrp4e
|
UTSW |
7 |
23,042,603 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
X0026:Nlrp4e
|
UTSW |
7 |
23,054,648 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATCTGCCGACGTATCACTTC -3'
(R):5'- AGGCACTGATACAACTGACG -3'
Sequencing Primer
(F):5'- GACGTATCACTTCCCTGTATACCAC -3'
(R):5'- CAACTGACGTTTTATTTCTTGGGAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation