Incidental Mutation 'R1878:Ahctf1'
ID |
211277 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ahctf1
|
Ensembl Gene |
ENSMUSG00000026491 |
Gene Name |
AT hook containing transcription factor 1 |
Synonyms |
Elys, 6230412P20Rik |
MMRRC Submission |
039899-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1878 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
179572459-179631245 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 179603074 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 828
(D828G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027768
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027768]
[ENSMUST00000145968]
|
AlphaFold |
Q8CJF7 |
PDB Structure |
Nucleoporin ELYS (aa1-494), Mus musculus [X-RAY DIFFRACTION]
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027768
AA Change: D828G
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000027768 Gene: ENSMUSG00000026491 AA Change: D828G
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: ENSMUST00000145968
|
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.3%
- 20x: 92.6%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
G |
A |
17: 45,825,564 (GRCm39) |
|
probably null |
Het |
Abcb9 |
A |
G |
5: 124,228,199 (GRCm39) |
V14A |
probably benign |
Het |
Adcy4 |
T |
C |
14: 56,007,362 (GRCm39) |
D950G |
probably damaging |
Het |
Ak2 |
T |
A |
4: 128,895,960 (GRCm39) |
V79D |
probably damaging |
Het |
Arhgap29 |
T |
C |
3: 121,805,020 (GRCm39) |
Y870H |
probably damaging |
Het |
Arid4a |
A |
G |
12: 71,134,363 (GRCm39) |
K1222E |
probably damaging |
Het |
Armc1 |
A |
T |
3: 19,211,708 (GRCm39) |
D37E |
probably damaging |
Het |
Cenpm |
A |
T |
15: 82,118,616 (GRCm39) |
M166K |
probably benign |
Het |
Cep97 |
G |
T |
16: 55,725,589 (GRCm39) |
P766Q |
probably damaging |
Het |
Col19a1 |
G |
T |
1: 24,356,476 (GRCm39) |
D672E |
probably benign |
Het |
Col6a2 |
T |
C |
10: 76,450,622 (GRCm39) |
D103G |
probably benign |
Het |
Ddi2 |
T |
C |
4: 141,411,460 (GRCm39) |
E484G |
probably benign |
Het |
Dph1 |
T |
C |
11: 75,075,053 (GRCm39) |
D100G |
probably damaging |
Het |
Dsp |
A |
T |
13: 38,348,831 (GRCm39) |
I100F |
possibly damaging |
Het |
Fam222b |
T |
C |
11: 78,034,042 (GRCm39) |
|
probably null |
Het |
Folh1 |
A |
T |
7: 86,420,950 (GRCm39) |
H126Q |
probably benign |
Het |
Gapvd1 |
A |
T |
2: 34,615,212 (GRCm39) |
D428E |
probably benign |
Het |
Gfus |
A |
G |
15: 75,797,218 (GRCm39) |
S306P |
probably benign |
Het |
Gm11564 |
A |
T |
11: 99,706,266 (GRCm39) |
C55S |
unknown |
Het |
Gne |
T |
C |
4: 44,040,434 (GRCm39) |
I577V |
probably damaging |
Het |
Gpr4 |
A |
G |
7: 18,957,049 (GRCm39) |
T324A |
probably damaging |
Het |
Hhipl1 |
A |
T |
12: 108,286,319 (GRCm39) |
N542I |
possibly damaging |
Het |
Ice2 |
T |
C |
9: 69,335,858 (GRCm39) |
|
probably null |
Het |
Irgm1 |
C |
T |
11: 48,756,897 (GRCm39) |
V305I |
probably benign |
Het |
Itgal |
C |
A |
7: 126,909,843 (GRCm39) |
Q73K |
probably benign |
Het |
Jcad |
C |
A |
18: 4,673,857 (GRCm39) |
H540N |
possibly damaging |
Het |
Jkamp |
T |
A |
12: 72,140,878 (GRCm39) |
V141D |
possibly damaging |
Het |
Lrrc9 |
T |
C |
12: 72,522,938 (GRCm39) |
|
probably null |
Het |
Mcc |
T |
C |
18: 44,601,467 (GRCm39) |
R621G |
possibly damaging |
Het |
Myd88 |
T |
A |
9: 119,167,686 (GRCm39) |
Q140L |
probably benign |
Het |
Mylk3 |
A |
T |
8: 86,082,028 (GRCm39) |
N323K |
possibly damaging |
Het |
Myrip |
C |
T |
9: 120,253,721 (GRCm39) |
R265W |
probably damaging |
Het |
N4bp1 |
A |
T |
8: 87,588,169 (GRCm39) |
S256R |
probably damaging |
Het |
Nhsl1 |
T |
G |
10: 18,400,027 (GRCm39) |
S418A |
probably damaging |
Het |
Nlrp9b |
A |
G |
7: 19,762,489 (GRCm39) |
T269A |
probably benign |
Het |
Nmt1 |
A |
G |
11: 102,943,077 (GRCm39) |
N144S |
probably benign |
Het |
Npvf |
G |
A |
6: 50,631,303 (GRCm39) |
T24I |
probably benign |
Het |
Obscn |
T |
G |
11: 58,886,379 (GRCm39) |
Y2347S |
probably damaging |
Het |
Or10d5 |
T |
A |
9: 39,862,053 (GRCm39) |
T5S |
probably benign |
Het |
Or14j1 |
T |
C |
17: 38,146,253 (GRCm39) |
V121A |
probably benign |
Het |
Or1j16 |
G |
T |
2: 36,530,201 (GRCm39) |
R50M |
possibly damaging |
Het |
Or2aj5 |
G |
T |
16: 19,424,501 (GRCm39) |
Q306K |
probably benign |
Het |
Or2n1c |
T |
C |
17: 38,519,265 (GRCm39) |
I43T |
probably benign |
Het |
Or4c105 |
A |
G |
2: 88,647,805 (GRCm39) |
T97A |
probably benign |
Het |
Or51v8 |
A |
C |
7: 103,319,389 (GRCm39) |
M283R |
probably damaging |
Het |
Or7a42 |
T |
A |
10: 78,791,639 (GRCm39) |
M200K |
possibly damaging |
Het |
Osgin2 |
A |
T |
4: 16,005,493 (GRCm39) |
V131D |
probably damaging |
Het |
Pcdhac2 |
A |
T |
18: 37,278,215 (GRCm39) |
K398N |
possibly damaging |
Het |
Pcnp |
A |
T |
16: 55,838,850 (GRCm39) |
M143K |
probably damaging |
Het |
Ppp3ca |
A |
G |
3: 136,503,639 (GRCm39) |
I71V |
probably benign |
Het |
Ppp4c |
G |
T |
7: 126,386,779 (GRCm39) |
R103S |
probably damaging |
Het |
Prl2c2 |
T |
A |
13: 13,179,911 (GRCm39) |
M1L |
probably damaging |
Het |
Recql5 |
A |
T |
11: 115,785,927 (GRCm39) |
D615E |
probably benign |
Het |
Robo3 |
T |
C |
9: 37,333,461 (GRCm39) |
E728G |
probably damaging |
Het |
Rps27l |
T |
A |
9: 66,854,911 (GRCm39) |
|
probably null |
Het |
Scube3 |
T |
A |
17: 28,371,387 (GRCm39) |
V34E |
probably benign |
Het |
Sez6l |
A |
G |
5: 112,623,089 (GRCm39) |
I154T |
probably damaging |
Het |
Sgsm1 |
G |
A |
5: 113,411,381 (GRCm39) |
L782F |
probably damaging |
Het |
Slc35c1 |
A |
G |
2: 92,289,398 (GRCm39) |
V36A |
probably benign |
Het |
Snapc4 |
A |
G |
2: 26,266,165 (GRCm39) |
|
probably null |
Het |
Sohlh2 |
C |
A |
3: 55,115,064 (GRCm39) |
R350S |
probably damaging |
Het |
Spag1 |
G |
A |
15: 36,181,916 (GRCm39) |
E25K |
probably damaging |
Het |
Sspo |
G |
A |
6: 48,436,300 (GRCm39) |
A1217T |
possibly damaging |
Het |
Stil |
T |
C |
4: 114,898,423 (GRCm39) |
S1018P |
probably damaging |
Het |
Strn |
T |
C |
17: 78,984,755 (GRCm39) |
E117G |
possibly damaging |
Het |
Syt17 |
A |
T |
7: 118,033,468 (GRCm39) |
M180K |
probably benign |
Het |
Trem1 |
T |
C |
17: 48,548,516 (GRCm39) |
S18P |
possibly damaging |
Het |
Umad1 |
T |
A |
6: 8,427,181 (GRCm39) |
F145I |
probably damaging |
Het |
Unc80 |
A |
C |
1: 66,548,561 (GRCm39) |
H611P |
probably damaging |
Het |
Zfp1004 |
T |
A |
2: 150,034,989 (GRCm39) |
C437S |
probably damaging |
Het |
Zfp709 |
A |
G |
8: 72,643,891 (GRCm39) |
E440G |
probably damaging |
Het |
Zfp764 |
C |
A |
7: 127,004,214 (GRCm39) |
A306S |
probably benign |
Het |
Zfp949 |
T |
A |
9: 88,451,356 (GRCm39) |
S309T |
probably damaging |
Het |
Zswim4 |
T |
C |
8: 84,939,405 (GRCm39) |
N826D |
possibly 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 |
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 |
|
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'- GGGTCTCATATATCCATCACCTG -3'
(R):5'- TCTGATAAACCTTGGGTCTTTGAC -3'
Sequencing Primer
(F):5'- CCACTTTTTAATGTATGGCCAAGAGC -3'
(R):5'- GCCTTTTAAGAACCACAACC -3'
|
Posted On |
2014-06-30 |