Incidental Mutation 'R5276:Ahdc1'
| ID |
403931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ahdc1
|
| Ensembl Gene |
ENSMUSG00000037692 |
| Gene Name |
AT hook, DNA binding motif, containing 1 |
| Synonyms |
D030015G18Rik |
| MMRRC Submission |
042863-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.189)
|
| Stock # |
R5276 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
132738797-132805421 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 132790109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 450
(P450L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101536
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044521]
[ENSMUST00000105914]
[ENSMUST00000105915]
[ENSMUST00000105916]
|
| AlphaFold |
Q6PAL7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044521
AA Change: P450L
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000047113
Gene: ENSMUSG00000037692
AA Change: P450L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
279 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
379 |
N/A |
INTRINSIC |
|
AT_hook
|
395 |
407 |
2.04e2 |
SMART |
|
low complexity region
|
418 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
508 |
N/A |
INTRINSIC |
|
AT_hook
|
541 |
553 |
5.47e-1 |
SMART |
|
low complexity region
|
661 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
696 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
770 |
785 |
N/A |
INTRINSIC |
|
low complexity region
|
805 |
820 |
N/A |
INTRINSIC |
|
low complexity region
|
836 |
857 |
N/A |
INTRINSIC |
|
low complexity region
|
963 |
974 |
N/A |
INTRINSIC |
|
low complexity region
|
1003 |
1028 |
N/A |
INTRINSIC |
|
low complexity region
|
1072 |
1084 |
N/A |
INTRINSIC |
|
low complexity region
|
1153 |
1168 |
N/A |
INTRINSIC |
|
low complexity region
|
1180 |
1197 |
N/A |
INTRINSIC |
|
low complexity region
|
1243 |
1251 |
N/A |
INTRINSIC |
|
low complexity region
|
1257 |
1271 |
N/A |
INTRINSIC |
|
low complexity region
|
1422 |
1436 |
N/A |
INTRINSIC |
|
low complexity region
|
1513 |
1528 |
N/A |
INTRINSIC |
|
low complexity region
|
1566 |
1579 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105914
AA Change: P450L
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000101534
Gene: ENSMUSG00000037692
AA Change: P450L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
279 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
379 |
N/A |
INTRINSIC |
|
AT_hook
|
395 |
407 |
2.04e2 |
SMART |
|
low complexity region
|
418 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
508 |
N/A |
INTRINSIC |
|
AT_hook
|
541 |
553 |
5.47e-1 |
SMART |
|
Pfam:DUF4683
|
559 |
639 |
6.4e-15 |
PFAM |
|
low complexity region
|
661 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
696 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
770 |
785 |
N/A |
INTRINSIC |
|
low complexity region
|
805 |
820 |
N/A |
INTRINSIC |
|
low complexity region
|
836 |
857 |
N/A |
INTRINSIC |
|
low complexity region
|
963 |
974 |
N/A |
INTRINSIC |
|
low complexity region
|
1003 |
1028 |
N/A |
INTRINSIC |
|
low complexity region
|
1072 |
1084 |
N/A |
INTRINSIC |
|
low complexity region
|
1153 |
1168 |
N/A |
INTRINSIC |
|
low complexity region
|
1180 |
1197 |
N/A |
INTRINSIC |
|
low complexity region
|
1243 |
1251 |
N/A |
INTRINSIC |
|
low complexity region
|
1257 |
1271 |
N/A |
INTRINSIC |
|
low complexity region
|
1422 |
1436 |
N/A |
INTRINSIC |
|
low complexity region
|
1513 |
1528 |
N/A |
INTRINSIC |
|
low complexity region
|
1566 |
1579 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105915
AA Change: P450L
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000101535
Gene: ENSMUSG00000037692
AA Change: P450L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
279 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
379 |
N/A |
INTRINSIC |
|
AT_hook
|
395 |
407 |
2.04e2 |
SMART |
|
low complexity region
|
418 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
508 |
N/A |
INTRINSIC |
|
AT_hook
|
541 |
553 |
5.47e-1 |
SMART |
|
low complexity region
|
661 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
696 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
770 |
785 |
N/A |
INTRINSIC |
|
low complexity region
|
805 |
820 |
N/A |
INTRINSIC |
|
low complexity region
|
836 |
857 |
N/A |
INTRINSIC |
|
low complexity region
|
963 |
974 |
N/A |
INTRINSIC |
|
low complexity region
|
1003 |
1028 |
N/A |
INTRINSIC |
|
low complexity region
|
1072 |
1084 |
N/A |
INTRINSIC |
|
low complexity region
|
1153 |
1168 |
N/A |
INTRINSIC |
|
low complexity region
|
1180 |
1197 |
N/A |
INTRINSIC |
|
low complexity region
|
1243 |
1251 |
N/A |
INTRINSIC |
|
low complexity region
|
1257 |
1271 |
N/A |
INTRINSIC |
|
low complexity region
|
1422 |
1436 |
N/A |
INTRINSIC |
|
low complexity region
|
1513 |
1528 |
N/A |
INTRINSIC |
|
low complexity region
|
1566 |
1579 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105916
AA Change: P450L
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000101536
Gene: ENSMUSG00000037692
AA Change: P450L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
279 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
379 |
N/A |
INTRINSIC |
|
AT_hook
|
395 |
407 |
2.04e2 |
SMART |
|
low complexity region
|
418 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
508 |
N/A |
INTRINSIC |
|
AT_hook
|
541 |
553 |
5.47e-1 |
SMART |
|
low complexity region
|
661 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
696 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
770 |
785 |
N/A |
INTRINSIC |
|
low complexity region
|
805 |
820 |
N/A |
INTRINSIC |
|
low complexity region
|
836 |
857 |
N/A |
INTRINSIC |
|
low complexity region
|
963 |
974 |
N/A |
INTRINSIC |
|
low complexity region
|
1003 |
1028 |
N/A |
INTRINSIC |
|
low complexity region
|
1072 |
1084 |
N/A |
INTRINSIC |
|
low complexity region
|
1153 |
1168 |
N/A |
INTRINSIC |
|
low complexity region
|
1180 |
1197 |
N/A |
INTRINSIC |
|
low complexity region
|
1243 |
1251 |
N/A |
INTRINSIC |
|
low complexity region
|
1257 |
1271 |
N/A |
INTRINSIC |
|
low complexity region
|
1422 |
1436 |
N/A |
INTRINSIC |
|
low complexity region
|
1513 |
1528 |
N/A |
INTRINSIC |
|
low complexity region
|
1566 |
1579 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135548
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142524
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148518
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154482
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154646
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156677
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
A |
G |
8: 44,023,457 (GRCm39) |
F11S |
probably benign |
Het |
| Adipor2 |
T |
A |
6: 119,334,182 (GRCm39) |
I343F |
probably damaging |
Het |
| Akna |
A |
C |
4: 63,286,440 (GRCm39) |
V1353G |
possibly damaging |
Het |
| Baz2b |
G |
A |
2: 59,792,958 (GRCm39) |
T390I |
probably benign |
Het |
| Btbd7 |
T |
C |
12: 102,804,651 (GRCm39) |
K130E |
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,965,415 (GRCm39) |
Y1101C |
probably damaging |
Het |
| Crlf2 |
T |
G |
5: 109,705,501 (GRCm39) |
|
probably benign |
Het |
| Ddx59 |
A |
T |
1: 136,347,186 (GRCm39) |
R281S |
probably damaging |
Het |
| Dgcr8 |
T |
G |
16: 18,101,635 (GRCm39) |
T216P |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,579,896 (GRCm39) |
I34F |
probably benign |
Het |
| Enpp3 |
A |
G |
10: 24,685,814 (GRCm39) |
S194P |
probably damaging |
Het |
| Entpd8 |
C |
T |
2: 24,975,057 (GRCm39) |
R463W |
probably benign |
Het |
| Fam169a |
A |
G |
13: 97,255,004 (GRCm39) |
T407A |
probably benign |
Het |
| Fam98b |
G |
T |
2: 117,089,779 (GRCm39) |
V99F |
possibly damaging |
Het |
| Foxn3 |
T |
A |
12: 99,162,687 (GRCm39) |
K405* |
probably null |
Het |
| Gsdmc |
T |
C |
15: 63,673,806 (GRCm39) |
T160A |
probably benign |
Het |
| Hdac1 |
T |
C |
4: 129,422,716 (GRCm39) |
|
probably null |
Het |
| Igfbp1 |
A |
C |
11: 7,151,892 (GRCm39) |
T232P |
probably damaging |
Het |
| Lcor |
T |
A |
19: 41,573,478 (GRCm39) |
H744Q |
probably damaging |
Het |
| Mertk |
G |
C |
2: 128,643,234 (GRCm39) |
G878R |
possibly damaging |
Het |
| Metap2 |
G |
T |
10: 93,704,784 (GRCm39) |
P281H |
possibly damaging |
Het |
| Metap2 |
T |
A |
10: 93,704,794 (GRCm39) |
T278S |
probably benign |
Het |
| Mfn1 |
T |
C |
3: 32,618,354 (GRCm39) |
V169A |
probably benign |
Het |
| Mms22l |
A |
G |
4: 24,578,774 (GRCm39) |
D751G |
probably damaging |
Het |
| Mpl |
A |
G |
4: 118,312,918 (GRCm39) |
V138A |
probably benign |
Het |
| Myef2 |
T |
A |
2: 124,937,641 (GRCm39) |
K533N |
probably damaging |
Het |
| Mylk3 |
C |
T |
8: 86,082,071 (GRCm39) |
G309E |
probably damaging |
Het |
| Nid1 |
T |
C |
13: 13,643,157 (GRCm39) |
V365A |
probably damaging |
Het |
| Or4d2 |
A |
T |
11: 87,784,018 (GRCm39) |
I244N |
probably damaging |
Het |
| Or5p57 |
A |
T |
7: 107,665,423 (GRCm39) |
L164* |
probably null |
Het |
| Or7d10 |
C |
A |
9: 19,831,917 (GRCm39) |
N137K |
possibly damaging |
Het |
| Or8g19 |
T |
C |
9: 39,055,611 (GRCm39) |
C72R |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,828,141 (GRCm39) |
K1323E |
probably damaging |
Het |
| Pcdhga12 |
G |
A |
18: 37,899,728 (GRCm39) |
D187N |
possibly damaging |
Het |
| Phrf1 |
T |
C |
7: 140,839,196 (GRCm39) |
|
probably benign |
Het |
| Phtf2 |
A |
G |
5: 20,977,195 (GRCm39) |
V608A |
probably benign |
Het |
| Plec |
G |
A |
15: 76,057,638 (GRCm39) |
R4122W |
probably damaging |
Het |
| Polm |
A |
G |
11: 5,779,393 (GRCm39) |
S441P |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,104,734 (GRCm39) |
V1404E |
probably benign |
Het |
| Ptger1 |
T |
G |
8: 84,395,974 (GRCm39) |
S344A |
possibly damaging |
Het |
| Rasef |
A |
T |
4: 73,654,004 (GRCm39) |
D401E |
probably null |
Het |
| Rbfox3 |
T |
C |
11: 118,387,178 (GRCm39) |
Y312C |
probably damaging |
Het |
| Rbm48 |
A |
G |
5: 3,634,759 (GRCm39) |
C402R |
probably benign |
Het |
| Rhbdl3 |
G |
A |
11: 80,210,492 (GRCm39) |
A82T |
probably benign |
Het |
| Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Homo |
| Sidt2 |
T |
A |
9: 45,866,075 (GRCm39) |
N44Y |
probably damaging |
Het |
| Slf2 |
T |
A |
19: 44,923,600 (GRCm39) |
L138Q |
possibly damaging |
Het |
| Spag16 |
T |
C |
1: 69,935,742 (GRCm39) |
|
probably null |
Het |
| Sspo |
C |
T |
6: 48,467,401 (GRCm39) |
P4188S |
probably damaging |
Het |
| Synm |
C |
T |
7: 67,384,437 (GRCm39) |
S1075N |
probably benign |
Het |
| Tacc2 |
G |
T |
7: 130,331,047 (GRCm39) |
D2151Y |
probably damaging |
Het |
| Tbc1d32 |
C |
A |
10: 56,027,914 (GRCm39) |
L729F |
probably damaging |
Het |
| Tnfsf4 |
A |
G |
1: 161,244,584 (GRCm39) |
N91S |
possibly damaging |
Het |
| Trim63 |
G |
A |
4: 134,050,444 (GRCm39) |
E243K |
probably benign |
Het |
| Trim72 |
T |
G |
7: 127,603,714 (GRCm39) |
L20R |
probably damaging |
Het |
| Tubb1 |
A |
G |
2: 174,299,217 (GRCm39) |
M300V |
probably damaging |
Het |
| Ubfd1 |
C |
T |
7: 121,668,091 (GRCm39) |
A207V |
probably damaging |
Het |
| Usp16 |
T |
A |
16: 87,267,339 (GRCm39) |
|
probably null |
Het |
| Vmn2r23 |
A |
G |
6: 123,689,936 (GRCm39) |
T271A |
possibly damaging |
Het |
| Vmn2r72 |
T |
A |
7: 85,387,462 (GRCm39) |
I701F |
possibly damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,769,232 (GRCm39) |
Y2078H |
probably damaging |
Het |
| Wdr41 |
T |
C |
13: 95,153,958 (GRCm39) |
|
probably null |
Het |
| Zfp955b |
A |
G |
17: 33,522,031 (GRCm39) |
Y500C |
probably damaging |
Het |
|
| Other mutations in Ahdc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00946:Ahdc1
|
APN |
4 |
132,790,373 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02293:Ahdc1
|
APN |
4 |
132,792,929 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02338:Ahdc1
|
APN |
4 |
132,789,860 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02828:Ahdc1
|
APN |
4 |
132,790,232 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02859:Ahdc1
|
APN |
4 |
132,790,004 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02859:Ahdc1
|
APN |
4 |
132,790,003 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02901:Ahdc1
|
APN |
4 |
132,792,245 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL03323:Ahdc1
|
APN |
4 |
132,792,739 (GRCm39) |
missense |
probably benign |
|
|
FR4304:Ahdc1
|
UTSW |
4 |
132,790,070 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Ahdc1
|
UTSW |
4 |
132,790,071 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Ahdc1
|
UTSW |
4 |
132,790,068 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Ahdc1
|
UTSW |
4 |
132,790,070 (GRCm39) |
small insertion |
probably benign |
|
|
R0325:Ahdc1
|
UTSW |
4 |
132,790,030 (GRCm39) |
missense |
unknown |
|
|
R0550:Ahdc1
|
UTSW |
4 |
132,790,348 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0681:Ahdc1
|
UTSW |
4 |
132,792,827 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0683:Ahdc1
|
UTSW |
4 |
132,792,827 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0731:Ahdc1
|
UTSW |
4 |
132,790,262 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0751:Ahdc1
|
UTSW |
4 |
132,792,707 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1137:Ahdc1
|
UTSW |
4 |
132,789,424 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1184:Ahdc1
|
UTSW |
4 |
132,792,707 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1331:Ahdc1
|
UTSW |
4 |
132,791,002 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1599:Ahdc1
|
UTSW |
4 |
132,792,247 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2202:Ahdc1
|
UTSW |
4 |
132,793,220 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2205:Ahdc1
|
UTSW |
4 |
132,793,220 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2261:Ahdc1
|
UTSW |
4 |
132,790,474 (GRCm39) |
missense |
unknown |
|
|
R2262:Ahdc1
|
UTSW |
4 |
132,790,474 (GRCm39) |
missense |
unknown |
|
|
R3683:Ahdc1
|
UTSW |
4 |
132,793,013 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R3684:Ahdc1
|
UTSW |
4 |
132,793,013 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R3685:Ahdc1
|
UTSW |
4 |
132,793,013 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R3713:Ahdc1
|
UTSW |
4 |
132,793,297 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4027:Ahdc1
|
UTSW |
4 |
132,791,476 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4807:Ahdc1
|
UTSW |
4 |
132,791,624 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4987:Ahdc1
|
UTSW |
4 |
132,791,631 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5126:Ahdc1
|
UTSW |
4 |
132,790,833 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5680:Ahdc1
|
UTSW |
4 |
132,792,907 (GRCm39) |
missense |
probably benign |
|
|
R5997:Ahdc1
|
UTSW |
4 |
132,791,206 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6050:Ahdc1
|
UTSW |
4 |
132,793,202 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6271:Ahdc1
|
UTSW |
4 |
132,792,035 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6410:Ahdc1
|
UTSW |
4 |
132,790,210 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6519:Ahdc1
|
UTSW |
4 |
132,792,079 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6970:Ahdc1
|
UTSW |
4 |
132,789,656 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7199:Ahdc1
|
UTSW |
4 |
132,791,935 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7202:Ahdc1
|
UTSW |
4 |
132,789,198 (GRCm39) |
nonsense |
probably null |
|
|
R7576:Ahdc1
|
UTSW |
4 |
132,792,313 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7614:Ahdc1
|
UTSW |
4 |
132,790,825 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7794:Ahdc1
|
UTSW |
4 |
132,791,289 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7875:Ahdc1
|
UTSW |
4 |
132,791,161 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8016:Ahdc1
|
UTSW |
4 |
132,790,226 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8295:Ahdc1
|
UTSW |
4 |
132,788,762 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
R8332:Ahdc1
|
UTSW |
4 |
132,791,282 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8719:Ahdc1
|
UTSW |
4 |
132,791,533 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8725:Ahdc1
|
UTSW |
4 |
132,792,743 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8862:Ahdc1
|
UTSW |
4 |
132,791,129 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9158:Ahdc1
|
UTSW |
4 |
132,792,505 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9179:Ahdc1
|
UTSW |
4 |
132,788,929 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9362:Ahdc1
|
UTSW |
4 |
132,790,348 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9428:Ahdc1
|
UTSW |
4 |
132,791,773 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
RF017:Ahdc1
|
UTSW |
4 |
132,790,062 (GRCm39) |
small insertion |
probably benign |
|
|
RF020:Ahdc1
|
UTSW |
4 |
132,791,588 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
T0722:Ahdc1
|
UTSW |
4 |
132,790,065 (GRCm39) |
small insertion |
probably benign |
|
|
T0975:Ahdc1
|
UTSW |
4 |
132,790,065 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCCAAAGATCCTGTGTC -3'
(R):5'- TCATCTTCAGCAGTGGGGTG -3'
Sequencing Primer
(F):5'- CTGTGTCGCAGGCGGAAAG -3'
(R):5'- GGCTCTGACGACACCCTCAAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation