Incidental Mutation 'R5546:Ahctf1'
| ID |
436257 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ahctf1
|
| Ensembl Gene |
ENSMUSG00000026491 |
| Gene Name |
AT hook containing transcription factor 1 |
| Synonyms |
Elys, 6230412P20Rik |
| MMRRC Submission |
043104-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5546 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
179572459-179631245 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 179581633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 1523
(I1523N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027768
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027768]
[ENSMUST00000125816]
|
| AlphaFold |
Q8CJF7 |
| PDB Structure |
Nucleoporin ELYS (aa1-494), Mus musculus [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027768
AA Change: I1523N
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000027768
Gene: ENSMUSG00000026491
AA Change: I1523N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELYS-bb
|
1 |
489 |
1.6e-307 |
PFAM |
|
Pfam:ELYS
|
722 |
955 |
2.5e-58 |
PFAM |
|
low complexity region
|
1138 |
1155 |
N/A |
INTRINSIC |
|
low complexity region
|
1180 |
1192 |
N/A |
INTRINSIC |
|
low complexity region
|
1352 |
1366 |
N/A |
INTRINSIC |
|
low complexity region
|
1597 |
1610 |
N/A |
INTRINSIC |
|
low complexity region
|
1684 |
1694 |
N/A |
INTRINSIC |
|
low complexity region
|
1834 |
1841 |
N/A |
INTRINSIC |
|
low complexity region
|
1918 |
1935 |
N/A |
INTRINSIC |
|
AT_hook
|
1955 |
1967 |
3.35e-1 |
SMART |
|
low complexity region
|
2060 |
2066 |
N/A |
INTRINSIC |
|
low complexity region
|
2073 |
2084 |
N/A |
INTRINSIC |
|
low complexity region
|
2096 |
2108 |
N/A |
INTRINSIC |
|
Blast:KISc
|
2164 |
2217 |
2e-12 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125816
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140489
|
| SMART Domains |
Protein: ENSMUSP00000115253
Gene: ENSMUSG00000026491
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
33 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151734
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice die between E3.5 and E5.5. The inner cell mass cells exhibit impaired proliferation and apoptosis when grown in culture. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
A |
G |
9: 107,806,832 (GRCm39) |
N385S |
probably benign |
Het |
| Akna |
C |
T |
4: 63,313,196 (GRCm39) |
G309E |
probably benign |
Het |
| Akna |
T |
C |
4: 63,313,803 (GRCm39) |
N107D |
probably benign |
Het |
| Arhgef15 |
G |
A |
11: 68,844,877 (GRCm39) |
P240L |
probably benign |
Het |
| Brd1 |
T |
A |
15: 88,585,325 (GRCm39) |
E836D |
probably benign |
Het |
| Brf2 |
A |
G |
8: 27,614,311 (GRCm39) |
S292P |
possibly damaging |
Het |
| C3 |
A |
G |
17: 57,529,976 (GRCm39) |
L500P |
probably damaging |
Het |
| Cblif |
T |
C |
19: 11,725,859 (GRCm39) |
S50P |
possibly damaging |
Het |
| Ccdc107 |
T |
C |
4: 43,495,685 (GRCm39) |
L196P |
probably damaging |
Het |
| Cdcp1 |
G |
T |
9: 123,007,094 (GRCm39) |
P551Q |
probably damaging |
Het |
| Ckap5 |
T |
C |
2: 91,425,161 (GRCm39) |
L1224P |
probably damaging |
Het |
| Csnk1g2 |
C |
A |
10: 80,474,232 (GRCm39) |
T178K |
probably benign |
Het |
| Ctsq |
A |
T |
13: 61,185,702 (GRCm39) |
C146* |
probably null |
Het |
| Cyp2ab1 |
T |
A |
16: 20,132,507 (GRCm39) |
I264F |
probably damaging |
Het |
| Daxx |
TGATGATGACGATGATGACGATGATGA |
TGATGATGACGATGATGA |
17: 34,131,615 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
G |
A |
12: 117,939,583 (GRCm39) |
T3179M |
possibly damaging |
Het |
| Dnah7c |
A |
T |
1: 46,705,477 (GRCm39) |
T2497S |
probably damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,193,989 (GRCm39) |
V776A |
probably damaging |
Het |
| Erbb4 |
G |
T |
1: 68,337,452 (GRCm39) |
T622N |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,526,218 (GRCm39) |
Y595H |
probably benign |
Het |
| Fam107a |
C |
T |
14: 8,298,764 (GRCm38) |
A121T |
probably benign |
Het |
| Gpatch11 |
C |
T |
17: 79,149,548 (GRCm39) |
Q183* |
probably null |
Het |
| Gpr161 |
C |
A |
1: 165,133,982 (GRCm39) |
F81L |
possibly damaging |
Het |
| Hook1 |
G |
T |
4: 95,890,765 (GRCm39) |
E291D |
probably benign |
Het |
| Hsf2bp |
T |
A |
17: 32,165,669 (GRCm39) |
I309F |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,275,485 (GRCm39) |
|
probably null |
Het |
| Ide |
T |
G |
19: 37,249,623 (GRCm39) |
M910L |
unknown |
Het |
| Igdcc4 |
A |
G |
9: 65,036,077 (GRCm39) |
Y712C |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,750,949 (GRCm39) |
|
probably benign |
Het |
| Lats1 |
T |
C |
10: 7,581,518 (GRCm39) |
Y768H |
probably damaging |
Het |
| Mageb3 |
A |
G |
2: 121,784,868 (GRCm39) |
V278A |
probably damaging |
Het |
| Mapkbp1 |
G |
A |
2: 119,849,724 (GRCm39) |
R732H |
probably damaging |
Het |
| Marveld2 |
T |
C |
13: 100,737,446 (GRCm39) |
I148V |
probably benign |
Het |
| Mast1 |
G |
C |
8: 85,642,889 (GRCm39) |
P969A |
probably damaging |
Het |
| Myh10 |
T |
G |
11: 68,689,206 (GRCm39) |
V1261G |
possibly damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,108,102 (GRCm39) |
H466Q |
probably benign |
Het |
| Npr2 |
T |
G |
4: 43,650,150 (GRCm39) |
V905G |
probably damaging |
Het |
| Oip5 |
T |
A |
2: 119,440,808 (GRCm39) |
I240F |
unknown |
Het |
| Or4c12 |
A |
G |
2: 89,773,929 (GRCm39) |
C177R |
probably damaging |
Het |
| Or5k8 |
G |
T |
16: 58,644,516 (GRCm39) |
Y185* |
probably null |
Het |
| Or8b12 |
T |
A |
9: 37,657,820 (GRCm39) |
M130K |
probably benign |
Het |
| Pcsk2 |
G |
A |
2: 143,388,480 (GRCm39) |
A24T |
probably benign |
Het |
| Plxnb1 |
G |
T |
9: 108,929,818 (GRCm39) |
G225W |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,906,350 (GRCm39) |
S389P |
possibly damaging |
Het |
| Prkca |
A |
G |
11: 107,944,806 (GRCm39) |
V175A |
probably benign |
Het |
| Rassf7 |
C |
A |
7: 140,796,973 (GRCm39) |
|
probably null |
Het |
| Rbl2 |
A |
G |
8: 91,805,560 (GRCm39) |
I206V |
probably benign |
Het |
| Rnf111 |
A |
T |
9: 70,366,378 (GRCm39) |
H353Q |
probably benign |
Het |
| Rpn1 |
T |
G |
6: 88,070,841 (GRCm39) |
V237G |
probably damaging |
Het |
| Sec61a2 |
T |
A |
2: 5,881,351 (GRCm39) |
I267F |
possibly damaging |
Het |
| Spop |
G |
T |
11: 95,376,669 (GRCm39) |
V241F |
probably damaging |
Het |
| Sptbn2 |
C |
T |
19: 4,775,978 (GRCm39) |
A178V |
probably damaging |
Het |
| Stard13 |
A |
G |
5: 150,969,366 (GRCm39) |
Y791H |
probably benign |
Het |
| Susd2 |
T |
A |
10: 75,478,052 (GRCm39) |
I113L |
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,964,628 (GRCm39) |
E666G |
possibly damaging |
Het |
| Tekt5 |
G |
T |
16: 10,179,254 (GRCm39) |
A371E |
possibly damaging |
Het |
| Thap11 |
G |
A |
8: 106,582,548 (GRCm39) |
E186K |
probably damaging |
Het |
| Tk2 |
A |
T |
8: 104,974,315 (GRCm39) |
D45E |
possibly damaging |
Het |
| Tuba8 |
C |
A |
6: 121,199,872 (GRCm39) |
Y185* |
probably null |
Het |
| Usp24 |
T |
A |
4: 106,273,244 (GRCm39) |
Y2210N |
probably damaging |
Het |
| Wfdc8 |
A |
T |
2: 164,439,239 (GRCm39) |
|
probably benign |
Het |
| Zar1l |
T |
C |
5: 150,436,365 (GRCm39) |
N237S |
probably damaging |
Het |
| Zfp607b |
A |
T |
7: 27,402,032 (GRCm39) |
T163S |
probably benign |
Het |
| Zfp619 |
C |
A |
7: 39,184,577 (GRCm39) |
H202Q |
probably benign |
Het |
|
| Other mutations in Ahctf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00757:Ahctf1
|
APN |
1 |
179,596,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01714:Ahctf1
|
APN |
1 |
179,623,442 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01787:Ahctf1
|
APN |
1 |
179,580,887 (GRCm39) |
missense |
probably benign |
|
|
IGL01997:Ahctf1
|
APN |
1 |
179,583,027 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02035:Ahctf1
|
APN |
1 |
179,593,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02158:Ahctf1
|
APN |
1 |
179,607,217 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02182:Ahctf1
|
APN |
1 |
179,580,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02298:Ahctf1
|
APN |
1 |
179,580,044 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02325:Ahctf1
|
APN |
1 |
179,603,580 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02619:Ahctf1
|
APN |
1 |
179,620,016 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02858:Ahctf1
|
APN |
1 |
179,596,599 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02893:Ahctf1
|
APN |
1 |
179,603,576 (GRCm39) |
nonsense |
probably null |
|
|
IGL02895:Ahctf1
|
APN |
1 |
179,621,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03180:Ahctf1
|
APN |
1 |
179,602,895 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03220:Ahctf1
|
APN |
1 |
179,615,767 (GRCm39) |
missense |
probably benign |
0.01 |
|
cerebro
|
UTSW |
1 |
179,596,979 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0003:Ahctf1
|
UTSW |
1 |
179,591,038 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0024:Ahctf1
|
UTSW |
1 |
179,580,001 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0030:Ahctf1
|
UTSW |
1 |
179,580,001 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0432:Ahctf1
|
UTSW |
1 |
179,611,726 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0481:Ahctf1
|
UTSW |
1 |
179,587,836 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0600:Ahctf1
|
UTSW |
1 |
179,591,033 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0613:Ahctf1
|
UTSW |
1 |
179,596,979 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0814:Ahctf1
|
UTSW |
1 |
179,590,473 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1055:Ahctf1
|
UTSW |
1 |
179,591,051 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1473:Ahctf1
|
UTSW |
1 |
179,626,844 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1473:Ahctf1
|
UTSW |
1 |
179,603,673 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1689:Ahctf1
|
UTSW |
1 |
179,595,948 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1778:Ahctf1
|
UTSW |
1 |
179,580,580 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1878:Ahctf1
|
UTSW |
1 |
179,603,074 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1925:Ahctf1
|
UTSW |
1 |
179,598,218 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2118:Ahctf1
|
UTSW |
1 |
179,597,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2122:Ahctf1
|
UTSW |
1 |
179,597,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2124:Ahctf1
|
UTSW |
1 |
179,597,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2373:Ahctf1
|
UTSW |
1 |
179,623,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2509:Ahctf1
|
UTSW |
1 |
179,598,258 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2697:Ahctf1
|
UTSW |
1 |
179,580,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3035:Ahctf1
|
UTSW |
1 |
179,581,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3155:Ahctf1
|
UTSW |
1 |
179,583,148 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3899:Ahctf1
|
UTSW |
1 |
179,605,345 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4036:Ahctf1
|
UTSW |
1 |
179,590,181 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4681:Ahctf1
|
UTSW |
1 |
179,580,361 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4695:Ahctf1
|
UTSW |
1 |
179,580,619 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4735:Ahctf1
|
UTSW |
1 |
179,580,964 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4857:Ahctf1
|
UTSW |
1 |
179,626,922 (GRCm39) |
unclassified |
probably benign |
|
|
R4898:Ahctf1
|
UTSW |
1 |
179,583,077 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4905:Ahctf1
|
UTSW |
1 |
179,576,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5011:Ahctf1
|
UTSW |
1 |
179,611,675 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5013:Ahctf1
|
UTSW |
1 |
179,611,675 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5053:Ahctf1
|
UTSW |
1 |
179,614,349 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5207:Ahctf1
|
UTSW |
1 |
179,621,159 (GRCm39) |
intron |
probably benign |
|
|
R5319:Ahctf1
|
UTSW |
1 |
179,596,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5343:Ahctf1
|
UTSW |
1 |
179,598,199 (GRCm39) |
nonsense |
probably null |
|
|
R5718:Ahctf1
|
UTSW |
1 |
179,596,904 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5862:Ahctf1
|
UTSW |
1 |
179,615,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5958:Ahctf1
|
UTSW |
1 |
179,574,107 (GRCm39) |
unclassified |
probably benign |
|
|
R6010:Ahctf1
|
UTSW |
1 |
179,623,378 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6081:Ahctf1
|
UTSW |
1 |
179,609,237 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6093:Ahctf1
|
UTSW |
1 |
179,590,517 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6207:Ahctf1
|
UTSW |
1 |
179,604,955 (GRCm39) |
splice site |
probably null |
|
|
R6268:Ahctf1
|
UTSW |
1 |
179,591,048 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6656:Ahctf1
|
UTSW |
1 |
179,581,078 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6668:Ahctf1
|
UTSW |
1 |
179,579,972 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6788:Ahctf1
|
UTSW |
1 |
179,580,199 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6860:Ahctf1
|
UTSW |
1 |
179,580,853 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6998:Ahctf1
|
UTSW |
1 |
179,598,480 (GRCm39) |
nonsense |
probably null |
|
|
R7082:Ahctf1
|
UTSW |
1 |
179,602,898 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7385:Ahctf1
|
UTSW |
1 |
179,580,946 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7414:Ahctf1
|
UTSW |
1 |
179,611,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7663:Ahctf1
|
UTSW |
1 |
179,617,879 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7673:Ahctf1
|
UTSW |
1 |
179,590,411 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7715:Ahctf1
|
UTSW |
1 |
179,598,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7819:Ahctf1
|
UTSW |
1 |
179,595,880 (GRCm39) |
missense |
probably benign |
|
|
R7846:Ahctf1
|
UTSW |
1 |
179,614,638 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7912:Ahctf1
|
UTSW |
1 |
179,580,656 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7942:Ahctf1
|
UTSW |
1 |
179,613,660 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8282:Ahctf1
|
UTSW |
1 |
179,605,371 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8376:Ahctf1
|
UTSW |
1 |
179,610,520 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8439:Ahctf1
|
UTSW |
1 |
179,590,175 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8482:Ahctf1
|
UTSW |
1 |
179,591,107 (GRCm39) |
unclassified |
probably benign |
|
|
R8683:Ahctf1
|
UTSW |
1 |
179,623,321 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8734:Ahctf1
|
UTSW |
1 |
179,608,430 (GRCm39) |
nonsense |
probably null |
|
|
R8855:Ahctf1
|
UTSW |
1 |
179,614,341 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8928:Ahctf1
|
UTSW |
1 |
179,596,626 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9009:Ahctf1
|
UTSW |
1 |
179,581,171 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9106:Ahctf1
|
UTSW |
1 |
179,614,601 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9228:Ahctf1
|
UTSW |
1 |
179,611,685 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9408:Ahctf1
|
UTSW |
1 |
179,603,638 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9800:Ahctf1
|
UTSW |
1 |
179,581,433 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
X0067:Ahctf1
|
UTSW |
1 |
179,605,269 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Ahctf1
|
UTSW |
1 |
179,621,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGCATCACATTCAGCAG -3'
(R):5'- ACGGGGATCATGCTGTTTAG -3'
Sequencing Primer
(F):5'- CAGAGTCTTTGTCATCAGGCAAGTC -3'
(R):5'- GTGGGATTTCTAGTTTAATTCCATCC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation