Incidental Mutation 'R1925:Ahctf1'
ID |
213320 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ahctf1
|
Ensembl Gene |
ENSMUSG00000026491 |
Gene Name |
AT hook containing transcription factor 1 |
Synonyms |
Elys, 6230412P20Rik |
MMRRC Submission |
039943-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1925 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
179572459-179631245 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 179598218 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 958
(H958R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027768
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027768]
[ENSMUST00000127250]
[ENSMUST00000145968]
|
AlphaFold |
Q8CJF7 |
PDB Structure |
Nucleoporin ELYS (aa1-494), Mus musculus [X-RAY DIFFRACTION]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027768
AA Change: H958R
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000027768 Gene: ENSMUSG00000026491 AA Change: H958R
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: ENSMUST00000127250
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145968
|
Meta Mutation Damage Score |
0.5217 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.6%
- 20x: 93.2%
|
Validation Efficiency |
99% (79/80) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
T |
C |
6: 142,617,333 (GRCm39) |
H577R |
probably damaging |
Het |
Acvr1 |
T |
C |
2: 58,337,661 (GRCm39) |
M474V |
probably damaging |
Het |
Adam1a |
A |
T |
5: 121,657,513 (GRCm39) |
C593* |
probably null |
Het |
Agap2 |
A |
G |
10: 126,926,744 (GRCm39) |
N927S |
probably damaging |
Het |
Apaf1 |
A |
G |
10: 90,835,581 (GRCm39) |
V1088A |
probably damaging |
Het |
Brpf1 |
G |
T |
6: 113,296,891 (GRCm39) |
K958N |
probably damaging |
Het |
Cadps |
A |
G |
14: 12,705,726 (GRCm38) |
I223T |
probably damaging |
Het |
Catsperg2 |
T |
C |
7: 29,397,189 (GRCm39) |
M1105V |
probably benign |
Het |
Clasp2 |
T |
A |
9: 113,735,265 (GRCm39) |
F1033L |
possibly damaging |
Het |
Col4a3 |
T |
A |
1: 82,678,094 (GRCm39) |
I1232N |
unknown |
Het |
Col4a3 |
T |
G |
1: 82,689,595 (GRCm39) |
|
probably benign |
Het |
Comtd1 |
T |
G |
14: 21,897,731 (GRCm39) |
E134A |
probably damaging |
Het |
Cyp2c55 |
A |
T |
19: 39,022,821 (GRCm39) |
T320S |
probably benign |
Het |
Dlx2 |
T |
C |
2: 71,376,522 (GRCm39) |
N72S |
probably benign |
Het |
Dnhd1 |
T |
A |
7: 105,301,459 (GRCm39) |
V272E |
probably damaging |
Het |
Dnhd1 |
T |
A |
7: 105,323,061 (GRCm39) |
I523N |
probably damaging |
Het |
Dpysl3 |
T |
A |
18: 43,465,996 (GRCm39) |
I140F |
probably damaging |
Het |
Elmod2 |
G |
A |
8: 84,048,093 (GRCm39) |
A123V |
probably benign |
Het |
Etv4 |
T |
C |
11: 101,662,507 (GRCm39) |
|
probably benign |
Het |
F3 |
A |
T |
3: 121,523,032 (GRCm39) |
T81S |
probably damaging |
Het |
Faf2 |
C |
T |
13: 54,799,865 (GRCm39) |
A224V |
probably damaging |
Het |
Fbn1 |
A |
T |
2: 125,205,549 (GRCm39) |
M1109K |
probably damaging |
Het |
Fnbp4 |
A |
G |
2: 90,596,187 (GRCm39) |
E586G |
probably damaging |
Het |
Gm10428 |
G |
T |
11: 62,644,179 (GRCm39) |
|
probably benign |
Het |
Gm5884 |
A |
T |
6: 128,622,050 (GRCm39) |
|
noncoding transcript |
Het |
Gm6471 |
T |
A |
7: 142,385,319 (GRCm39) |
|
noncoding transcript |
Het |
Gtse1 |
T |
C |
15: 85,757,939 (GRCm39) |
V515A |
probably benign |
Het |
H2-M2 |
T |
C |
17: 37,793,391 (GRCm39) |
E205G |
probably damaging |
Het |
Ido1 |
T |
A |
8: 25,075,306 (GRCm39) |
T259S |
possibly damaging |
Het |
Il1r2 |
A |
G |
1: 40,154,308 (GRCm39) |
Y225C |
probably damaging |
Het |
Kcnq3 |
T |
G |
15: 65,876,658 (GRCm39) |
D495A |
possibly damaging |
Het |
Lrrc49 |
T |
C |
9: 60,556,773 (GRCm39) |
N321D |
probably benign |
Het |
Lztr1 |
G |
T |
16: 17,341,247 (GRCm39) |
R291L |
probably damaging |
Het |
Micu1 |
C |
T |
10: 59,568,983 (GRCm39) |
|
probably benign |
Het |
Msh5 |
C |
T |
17: 35,248,928 (GRCm39) |
V702I |
probably benign |
Het |
Myh1 |
T |
C |
11: 67,101,996 (GRCm39) |
I792T |
probably benign |
Het |
Nav1 |
T |
A |
1: 135,534,967 (GRCm39) |
|
probably benign |
Het |
Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
Or11i1 |
C |
T |
3: 106,729,688 (GRCm39) |
M62I |
probably damaging |
Het |
Or5ac22 |
A |
G |
16: 59,135,027 (GRCm39) |
S248P |
probably damaging |
Het |
Or8u9 |
T |
C |
2: 86,001,354 (GRCm39) |
D269G |
probably benign |
Het |
Otof |
G |
C |
5: 30,551,532 (GRCm39) |
N340K |
probably benign |
Het |
Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
Plek2 |
T |
A |
12: 78,941,664 (GRCm39) |
Y155F |
probably damaging |
Het |
Ppa1 |
T |
A |
10: 61,487,388 (GRCm39) |
Y38* |
probably null |
Het |
Pramel22 |
T |
A |
4: 143,381,025 (GRCm39) |
T333S |
probably damaging |
Het |
Prmt9 |
T |
A |
8: 78,303,968 (GRCm39) |
C684S |
possibly damaging |
Het |
Rasl10a |
A |
G |
11: 5,009,473 (GRCm39) |
D87G |
possibly damaging |
Het |
Rtn4rl1 |
C |
A |
11: 75,156,864 (GRCm39) |
P432Q |
probably benign |
Het |
Scd4 |
T |
G |
19: 44,329,823 (GRCm39) |
Y265D |
probably damaging |
Het |
Scn5a |
C |
T |
9: 119,358,085 (GRCm39) |
A719T |
probably benign |
Het |
Sdk1 |
T |
A |
5: 142,171,040 (GRCm39) |
F1968I |
probably benign |
Het |
Sh3bp5 |
T |
C |
14: 31,157,880 (GRCm39) |
E12G |
probably benign |
Het |
Slc6a12 |
T |
A |
6: 121,337,485 (GRCm39) |
F390I |
probably benign |
Het |
Snapin |
A |
T |
3: 90,397,539 (GRCm39) |
D77E |
possibly damaging |
Het |
Sox2 |
G |
T |
3: 34,704,820 (GRCm39) |
E86* |
probably null |
Het |
Sparcl1 |
A |
G |
5: 104,241,220 (GRCm39) |
L68P |
probably benign |
Het |
Sptb |
T |
A |
12: 76,669,027 (GRCm39) |
E562V |
probably damaging |
Het |
Taar3 |
A |
T |
10: 23,826,483 (GRCm39) |
H343L |
probably benign |
Het |
Tanc1 |
T |
A |
2: 59,555,095 (GRCm39) |
V51E |
possibly damaging |
Het |
Tbc1d22a |
T |
C |
15: 86,123,350 (GRCm39) |
S128P |
probably damaging |
Het |
Thada |
A |
G |
17: 84,751,927 (GRCm39) |
S350P |
probably benign |
Het |
Tmem161b |
T |
C |
13: 84,408,348 (GRCm39) |
V93A |
probably benign |
Het |
Tnn |
T |
C |
1: 159,924,799 (GRCm39) |
Y1185C |
probably damaging |
Het |
Trim43a |
T |
C |
9: 88,464,371 (GRCm39) |
V94A |
probably benign |
Het |
Ttll12 |
C |
T |
15: 83,465,976 (GRCm39) |
E407K |
probably benign |
Het |
Ttn |
T |
C |
2: 76,555,856 (GRCm39) |
E30383G |
probably damaging |
Het |
Vmn1r29 |
T |
A |
6: 58,285,087 (GRCm39) |
M269K |
possibly damaging |
Het |
Vmn2r117 |
A |
G |
17: 23,697,363 (GRCm39) |
S110P |
probably benign |
Het |
Vmn2r6 |
C |
A |
3: 64,463,698 (GRCm39) |
V290L |
possibly damaging |
Het |
Vmn2r8 |
A |
T |
5: 108,950,019 (GRCm39) |
L276Q |
probably damaging |
Het |
Zan |
C |
A |
5: 137,423,904 (GRCm39) |
C2665F |
unknown |
Het |
Zfp507 |
C |
T |
7: 35,493,150 (GRCm39) |
R631Q |
probably damaging |
Het |
Zfp983 |
A |
G |
17: 21,880,933 (GRCm39) |
H287R |
probably damaging |
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 |
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 |
|
R5546:Ahctf1
|
UTSW |
1 |
179,581,633 (GRCm39) |
missense |
probably benign |
0.01 |
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'- CAATGCAGATCCTTCAAGTTCAGG -3'
(R):5'- AAGTTTGTCAGGAGATGGGC -3'
Sequencing Primer
(F):5'- GCAGATCCTTCAAGTTCAGGACAATG -3'
(R):5'- TAATGGAGGATTTACTGAAGCTGCC -3'
|
Posted On |
2014-07-14 |