Incidental Mutation 'R2076:Elp1'
| ID |
229137 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elp1
|
| Ensembl Gene |
ENSMUSG00000028431 |
| Gene Name |
elongator complex protein 1 |
| Synonyms |
Ikbkap, C78473, 3110040G09Rik, IKAP |
| MMRRC Submission |
040081-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2076 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
56749680-56802331 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56786620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 441
(D441G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030140]
|
| AlphaFold |
Q7TT37 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030140
AA Change: D441G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030140
Gene: ENSMUSG00000028431
AA Change: D441G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IKI3
|
1 |
955 |
N/A |
PFAM |
|
low complexity region
|
1186 |
1205 |
N/A |
INTRINSIC |
|
low complexity region
|
1210 |
1225 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3657 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (61/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality with arrested neural and vascular development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
T |
11: 110,178,478 (GRCm39) |
V1165D |
probably benign |
Het |
| Acot11 |
T |
C |
4: 106,627,910 (GRCm39) |
H103R |
probably damaging |
Het |
| Apba1 |
G |
T |
19: 23,870,587 (GRCm39) |
E140* |
probably null |
Het |
| Bicdl1 |
A |
T |
5: 115,793,987 (GRCm39) |
I253N |
probably damaging |
Het |
| Ccdc159 |
T |
C |
9: 21,840,802 (GRCm39) |
|
probably null |
Het |
| Ccne2 |
A |
G |
4: 11,197,177 (GRCm39) |
R160G |
probably damaging |
Het |
| Cct7 |
A |
T |
6: 85,445,122 (GRCm39) |
I458F |
probably damaging |
Het |
| Cd3g |
T |
A |
9: 44,885,595 (GRCm39) |
D50V |
probably damaging |
Het |
| Ces2h |
T |
C |
8: 105,745,660 (GRCm39) |
L461P |
probably benign |
Het |
| Cplane1 |
T |
A |
15: 8,248,741 (GRCm39) |
D1763E |
possibly damaging |
Het |
| Csn2 |
A |
G |
5: 87,844,033 (GRCm39) |
S19P |
probably damaging |
Het |
| Cyp3a11 |
A |
T |
5: 145,816,576 (GRCm39) |
V4D |
probably benign |
Het |
| Ddx3y |
A |
G |
Y: 1,266,593 (GRCm39) |
|
probably null |
Het |
| Dipk1c |
G |
T |
18: 84,755,033 (GRCm39) |
D170Y |
probably damaging |
Het |
| Dlgap1 |
C |
T |
17: 71,093,826 (GRCm39) |
Q716* |
probably null |
Het |
| Dlx6 |
A |
G |
6: 6,867,098 (GRCm39) |
S234G |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,542,968 (GRCm39) |
T2401A |
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,281,481 (GRCm39) |
Y2847* |
probably null |
Het |
| Dpysl2 |
A |
G |
14: 67,102,571 (GRCm39) |
S30P |
probably damaging |
Het |
| Ezh2 |
A |
T |
6: 47,553,567 (GRCm39) |
L50* |
probably null |
Het |
| Fam135b |
T |
A |
15: 71,350,092 (GRCm39) |
E349D |
probably damaging |
Het |
| Foxl3 |
A |
G |
5: 138,807,022 (GRCm39) |
D100G |
probably benign |
Het |
| Frat2 |
T |
C |
19: 41,836,242 (GRCm39) |
T37A |
probably benign |
Het |
| Hivep1 |
G |
A |
13: 42,317,869 (GRCm39) |
|
probably null |
Het |
| Ift25 |
T |
C |
4: 107,136,964 (GRCm39) |
S121P |
possibly damaging |
Het |
| Impdh1 |
G |
A |
6: 29,205,162 (GRCm39) |
A213V |
probably damaging |
Het |
| Irf2 |
G |
T |
8: 47,298,962 (GRCm39) |
W252L |
probably damaging |
Het |
| Irx4 |
A |
G |
13: 73,416,384 (GRCm39) |
D260G |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 34,152,513 (GRCm39) |
H338L |
probably benign |
Het |
| Kif9 |
T |
A |
9: 110,314,100 (GRCm39) |
|
probably null |
Het |
| Klhl24 |
T |
C |
16: 19,936,628 (GRCm39) |
V412A |
probably damaging |
Het |
| Lgals8 |
T |
A |
13: 12,469,750 (GRCm39) |
K70* |
probably null |
Het |
| Mrtfb |
T |
C |
16: 13,219,246 (GRCm39) |
S631P |
probably benign |
Het |
| Myo1e |
T |
A |
9: 70,291,159 (GRCm39) |
N983K |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,340,691 (GRCm39) |
R2010G |
probably benign |
Het |
| Npw |
A |
T |
17: 24,876,413 (GRCm39) |
V166D |
possibly damaging |
Het |
| Osbpl5 |
T |
C |
7: 143,262,881 (GRCm39) |
Y169C |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,178,479 (GRCm39) |
Y579H |
probably damaging |
Het |
| Pde8a |
A |
G |
7: 80,958,693 (GRCm39) |
T330A |
probably benign |
Het |
| Plxnb2 |
C |
T |
15: 89,042,229 (GRCm39) |
V1592M |
probably damaging |
Het |
| Ppp2r3d |
A |
C |
9: 101,021,570 (GRCm39) |
M955R |
possibly damaging |
Het |
| Ptprk |
T |
A |
10: 28,465,364 (GRCm39) |
I1349K |
probably damaging |
Het |
| Rad52 |
C |
T |
6: 119,888,040 (GRCm39) |
H9Y |
probably benign |
Het |
| Rapgef1 |
A |
G |
2: 29,592,520 (GRCm39) |
Q466R |
probably benign |
Het |
| Rb1cc1 |
T |
A |
1: 6,320,262 (GRCm39) |
I1227N |
possibly damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,164,088 (GRCm39) |
M273V |
probably benign |
Het |
| Shoc1 |
A |
G |
4: 59,082,410 (GRCm39) |
V406A |
possibly damaging |
Het |
| Slc30a3 |
G |
T |
5: 31,244,165 (GRCm39) |
Y323* |
probably null |
Het |
| Slc5a9 |
T |
C |
4: 111,742,770 (GRCm39) |
I441V |
possibly damaging |
Het |
| Spast |
G |
C |
17: 74,659,026 (GRCm39) |
G131A |
probably damaging |
Het |
| Syne1 |
C |
G |
10: 4,990,897 (GRCm39) |
W8444S |
probably damaging |
Het |
| Tgm4 |
G |
T |
9: 122,880,160 (GRCm39) |
A211S |
probably benign |
Het |
| Themis2 |
T |
C |
4: 132,513,113 (GRCm39) |
D371G |
probably damaging |
Het |
| Tmem132e |
T |
A |
11: 82,325,894 (GRCm39) |
I206N |
possibly damaging |
Het |
| Uba3 |
G |
T |
6: 97,176,241 (GRCm39) |
D88E |
probably damaging |
Het |
| Vmn1r230 |
T |
A |
17: 21,067,144 (GRCm39) |
M111K |
probably damaging |
Het |
| Wdr35 |
C |
T |
12: 9,074,281 (GRCm39) |
H971Y |
possibly damaging |
Het |
| Yeats2 |
C |
A |
16: 20,005,032 (GRCm39) |
H356Q |
possibly damaging |
Het |
| Zfp180 |
A |
G |
7: 23,804,528 (GRCm39) |
K316E |
probably damaging |
Het |
| Zfp518a |
T |
C |
19: 40,902,771 (GRCm39) |
L900P |
probably damaging |
Het |
| Zfp655 |
A |
G |
5: 145,181,410 (GRCm39) |
N423D |
possibly damaging |
Het |
| Zfp932 |
A |
G |
5: 110,157,334 (GRCm39) |
Q344R |
probably benign |
Het |
|
| Other mutations in Elp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01060:Elp1
|
APN |
4 |
56,784,537 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01521:Elp1
|
APN |
4 |
56,771,059 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02069:Elp1
|
APN |
4 |
56,779,731 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02162:Elp1
|
APN |
4 |
56,796,502 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02252:Elp1
|
APN |
4 |
56,759,813 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02726:Elp1
|
APN |
4 |
56,767,878 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02822:Elp1
|
APN |
4 |
56,774,520 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03024:Elp1
|
APN |
4 |
56,774,686 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03126:Elp1
|
APN |
4 |
56,779,717 (GRCm39) |
missense |
probably benign |
|
|
R0211:Elp1
|
UTSW |
4 |
56,795,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Elp1
|
UTSW |
4 |
56,784,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0239:Elp1
|
UTSW |
4 |
56,784,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0603:Elp1
|
UTSW |
4 |
56,792,105 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1109:Elp1
|
UTSW |
4 |
56,786,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1314:Elp1
|
UTSW |
4 |
56,786,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1333:Elp1
|
UTSW |
4 |
56,770,969 (GRCm39) |
splice site |
probably benign |
|
|
R1434:Elp1
|
UTSW |
4 |
56,781,193 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1547:Elp1
|
UTSW |
4 |
56,798,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1547:Elp1
|
UTSW |
4 |
56,792,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1587:Elp1
|
UTSW |
4 |
56,786,666 (GRCm39) |
nonsense |
probably null |
|
|
R1601:Elp1
|
UTSW |
4 |
56,774,756 (GRCm39) |
nonsense |
probably null |
|
|
R2153:Elp1
|
UTSW |
4 |
56,779,636 (GRCm39) |
splice site |
probably null |
|
|
R2263:Elp1
|
UTSW |
4 |
56,755,298 (GRCm39) |
splice site |
probably null |
|
|
R2325:Elp1
|
UTSW |
4 |
56,784,622 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2333:Elp1
|
UTSW |
4 |
56,775,456 (GRCm39) |
missense |
probably benign |
0.28 |
|
R3151:Elp1
|
UTSW |
4 |
56,770,985 (GRCm39) |
missense |
probably benign |
0.24 |
|
R3622:Elp1
|
UTSW |
4 |
56,759,925 (GRCm39) |
splice site |
probably null |
|
|
R3624:Elp1
|
UTSW |
4 |
56,798,708 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R3889:Elp1
|
UTSW |
4 |
56,759,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4007:Elp1
|
UTSW |
4 |
56,794,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4196:Elp1
|
UTSW |
4 |
56,755,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4794:Elp1
|
UTSW |
4 |
56,781,176 (GRCm39) |
small deletion |
probably benign |
|
|
R5330:Elp1
|
UTSW |
4 |
56,800,001 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5331:Elp1
|
UTSW |
4 |
56,800,001 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5360:Elp1
|
UTSW |
4 |
56,800,104 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5362:Elp1
|
UTSW |
4 |
56,778,969 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5645:Elp1
|
UTSW |
4 |
56,776,920 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5877:Elp1
|
UTSW |
4 |
56,787,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6268:Elp1
|
UTSW |
4 |
56,762,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6284:Elp1
|
UTSW |
4 |
56,762,281 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6526:Elp1
|
UTSW |
4 |
56,798,812 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6610:Elp1
|
UTSW |
4 |
56,758,236 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6627:Elp1
|
UTSW |
4 |
56,784,647 (GRCm39) |
splice site |
probably null |
|
|
R6786:Elp1
|
UTSW |
4 |
56,771,555 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6823:Elp1
|
UTSW |
4 |
56,787,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7129:Elp1
|
UTSW |
4 |
56,787,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7157:Elp1
|
UTSW |
4 |
56,781,176 (GRCm39) |
small deletion |
probably benign |
|
|
R7180:Elp1
|
UTSW |
4 |
56,796,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7391:Elp1
|
UTSW |
4 |
56,781,212 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7391:Elp1
|
UTSW |
4 |
56,781,211 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7403:Elp1
|
UTSW |
4 |
56,778,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7432:Elp1
|
UTSW |
4 |
56,776,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7674:Elp1
|
UTSW |
4 |
56,792,075 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7736:Elp1
|
UTSW |
4 |
56,776,920 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7755:Elp1
|
UTSW |
4 |
56,774,552 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7760:Elp1
|
UTSW |
4 |
56,790,892 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7849:Elp1
|
UTSW |
4 |
56,758,968 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7959:Elp1
|
UTSW |
4 |
56,774,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7970:Elp1
|
UTSW |
4 |
56,771,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8324:Elp1
|
UTSW |
4 |
56,772,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8456:Elp1
|
UTSW |
4 |
56,781,176 (GRCm39) |
small deletion |
probably benign |
|
|
R8671:Elp1
|
UTSW |
4 |
56,771,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9245:Elp1
|
UTSW |
4 |
56,771,003 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9562:Elp1
|
UTSW |
4 |
56,772,521 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9565:Elp1
|
UTSW |
4 |
56,772,521 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9568:Elp1
|
UTSW |
4 |
56,786,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Elp1
|
UTSW |
4 |
56,790,146 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATCAAGGCACAGCGAAATG -3'
(R):5'- AGCTATGCTTACTGCCTGC -3'
Sequencing Primer
(F):5'- TCATCAAGGCACAGCGAAATGTATAG -3'
(R):5'- GCTTTTCACATTGAATACCTGCATTG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation