Incidental Mutation 'IGL02505:Kdm1b'
| ID |
296249 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kdm1b
|
| Ensembl Gene |
ENSMUSG00000038080 |
| Gene Name |
lysine (K)-specific demethylase 1B |
| Synonyms |
Aof1, 4632428N09Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.406)
|
| Stock # |
IGL02505
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
47196849-47238085 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 47214331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 226
(D226Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037025]
|
| AlphaFold |
Q8CIG3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037025
AA Change: D226Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038373
Gene: ENSMUSG00000038080
AA Change: D226Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-CW
|
138 |
191 |
2.6e-13 |
PFAM |
|
low complexity region
|
235 |
253 |
N/A |
INTRINSIC |
|
Pfam:SWIRM
|
286 |
369 |
6e-12 |
PFAM |
|
Pfam:Pyr_redox_2
|
368 |
490 |
3.1e-8 |
PFAM |
|
Pfam:Thi4
|
375 |
446 |
2.2e-10 |
PFAM |
|
Pfam:FAD_binding_3
|
388 |
423 |
4.1e-7 |
PFAM |
|
Pfam:HI0933_like
|
389 |
428 |
1.6e-7 |
PFAM |
|
Pfam:FAD_binding_2
|
390 |
428 |
1.6e-6 |
PFAM |
|
Pfam:Pyr_redox
|
390 |
438 |
8e-8 |
PFAM |
|
Pfam:NAD_binding_8
|
393 |
460 |
1.6e-13 |
PFAM |
|
Pfam:Amino_oxidase
|
398 |
824 |
3.7e-86 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131120
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143518
|
| SMART Domains |
Protein: ENSMUSP00000114999
Gene: ENSMUSG00000038080
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SWIRM
|
3 |
86 |
1.1e-12 |
PFAM |
|
Pfam:Thi4
|
91 |
163 |
3.5e-10 |
PFAM |
|
Pfam:FAD_binding_3
|
105 |
140 |
3.5e-7 |
PFAM |
|
Pfam:HI0933_like
|
106 |
145 |
1.7e-7 |
PFAM |
|
Pfam:Pyr_redox_2
|
106 |
251 |
1.5e-10 |
PFAM |
|
Pfam:FAD_binding_2
|
107 |
150 |
5.7e-7 |
PFAM |
|
Pfam:Pyr_redox
|
107 |
158 |
6.4e-8 |
PFAM |
|
Pfam:Pyr_redox_3
|
109 |
288 |
1.2e-13 |
PFAM |
|
Pfam:NAD_binding_8
|
110 |
177 |
2.3e-13 |
PFAM |
|
Pfam:Amino_oxidase
|
115 |
181 |
8.6e-19 |
PFAM |
|
Pfam:Amino_oxidase
|
178 |
441 |
4.5e-63 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice of both sexes are viable, grossly normal and male mice are fertile; however, heterozygous progeny of homozygous null mothers display severe placental defects, embryonic growth impairment, neural tube defects and pericardial edema, and do not survive past E10.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aagab |
C |
A |
9: 63,524,096 (GRCm39) |
L68M |
probably damaging |
Het |
| Abca13 |
T |
G |
11: 9,531,498 (GRCm39) |
L4575W |
probably damaging |
Het |
| Abcb11 |
A |
T |
2: 69,076,105 (GRCm39) |
V1201D |
probably damaging |
Het |
| Aldoa |
G |
T |
7: 126,395,166 (GRCm39) |
A252E |
probably damaging |
Het |
| Ap1b1 |
C |
T |
11: 4,981,700 (GRCm39) |
A536V |
probably benign |
Het |
| Arhgef3 |
A |
G |
14: 27,115,957 (GRCm39) |
H233R |
possibly damaging |
Het |
| Arhgef40 |
A |
T |
14: 52,238,320 (GRCm39) |
E1266D |
probably damaging |
Het |
| Atp1a4 |
C |
T |
1: 172,062,642 (GRCm39) |
V622M |
probably damaging |
Het |
| Aup1 |
A |
G |
6: 83,032,258 (GRCm39) |
T142A |
probably benign |
Het |
| Bcl6 |
A |
T |
16: 23,796,319 (GRCm39) |
I36N |
probably damaging |
Het |
| Best1 |
A |
G |
19: 9,966,514 (GRCm39) |
S358P |
probably damaging |
Het |
| Cadps |
T |
G |
14: 12,449,759 (GRCm38) |
Q1150P |
probably damaging |
Het |
| Capn5 |
T |
A |
7: 97,780,403 (GRCm39) |
E322D |
possibly damaging |
Het |
| Cd300ld2 |
A |
T |
11: 114,904,513 (GRCm39) |
M118K |
probably benign |
Het |
| Cdh9 |
T |
C |
15: 16,856,075 (GRCm39) |
L705P |
probably damaging |
Het |
| Cep170b |
T |
G |
12: 112,709,504 (GRCm39) |
N436K |
probably damaging |
Het |
| Chil6 |
T |
A |
3: 106,313,278 (GRCm39) |
I24F |
probably benign |
Het |
| Chmp2a |
T |
A |
7: 12,767,782 (GRCm39) |
K48* |
probably null |
Het |
| Col19a1 |
C |
T |
1: 24,339,665 (GRCm39) |
|
probably benign |
Het |
| Cops7b |
C |
A |
1: 86,520,043 (GRCm39) |
Q65K |
probably benign |
Het |
| Cyp2e1 |
T |
A |
7: 140,349,069 (GRCm39) |
L133H |
probably damaging |
Het |
| Dkc1 |
T |
C |
X: 74,152,339 (GRCm39) |
|
probably benign |
Het |
| Erlec1 |
A |
G |
11: 30,900,767 (GRCm39) |
Y134H |
probably damaging |
Het |
| F8 |
C |
A |
X: 74,423,204 (GRCm39) |
|
probably benign |
Het |
| Fus |
G |
A |
7: 127,580,679 (GRCm39) |
R252Q |
possibly damaging |
Het |
| Fzd3 |
A |
T |
14: 65,490,555 (GRCm39) |
D9E |
probably benign |
Het |
| Gm15821 |
T |
C |
17: 34,433,259 (GRCm39) |
|
probably benign |
Het |
| Gm5117 |
C |
A |
8: 32,228,344 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Q6 |
A |
G |
17: 35,644,152 (GRCm39) |
I45V |
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,847,496 (GRCm39) |
|
probably null |
Het |
| Ifi204 |
T |
C |
1: 173,583,220 (GRCm39) |
K333E |
probably benign |
Het |
| Ildr1 |
G |
A |
16: 36,536,526 (GRCm39) |
G185D |
probably damaging |
Het |
| Itgb2 |
G |
A |
10: 77,383,052 (GRCm39) |
D141N |
probably damaging |
Het |
| Krt77 |
A |
G |
15: 101,769,381 (GRCm39) |
L460P |
probably damaging |
Het |
| Lamp3 |
A |
G |
16: 19,474,207 (GRCm39) |
I389T |
possibly damaging |
Het |
| Macroh2a1 |
A |
G |
13: 56,222,143 (GRCm39) |
V336A |
probably damaging |
Het |
| Mars1 |
C |
A |
10: 127,140,113 (GRCm39) |
E414* |
probably null |
Het |
| Mpg |
T |
C |
11: 32,180,042 (GRCm39) |
V190A |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,937,626 (GRCm39) |
I742M |
possibly damaging |
Het |
| Nell2 |
A |
T |
15: 95,194,144 (GRCm39) |
|
probably benign |
Het |
| Nmur1 |
T |
C |
1: 86,314,057 (GRCm39) |
D370G |
probably benign |
Het |
| Npsr1 |
A |
G |
9: 24,009,578 (GRCm39) |
E28G |
probably benign |
Het |
| Or52r1 |
T |
C |
7: 102,536,814 (GRCm39) |
E182G |
probably damaging |
Het |
| Or56a3 |
A |
T |
7: 104,735,540 (GRCm39) |
I206L |
probably benign |
Het |
| Or7a42 |
G |
T |
10: 78,791,767 (GRCm39) |
V243F |
probably benign |
Het |
| Or8b12c |
G |
A |
9: 37,715,627 (GRCm39) |
C140Y |
probably benign |
Het |
| Pdzrn3 |
T |
C |
6: 101,128,899 (GRCm39) |
N589S |
possibly damaging |
Het |
| Pkd1l3 |
T |
C |
8: 110,359,848 (GRCm39) |
L901P |
probably damaging |
Het |
| Plekhg1 |
G |
T |
10: 3,907,139 (GRCm39) |
K685N |
probably damaging |
Het |
| Prim1 |
T |
A |
10: 127,865,652 (GRCm39) |
*419R |
probably null |
Het |
| Ptk2b |
G |
T |
14: 66,391,692 (GRCm39) |
N905K |
probably damaging |
Het |
| Rbm34 |
T |
C |
8: 127,676,071 (GRCm39) |
I395V |
probably benign |
Het |
| Rfx1 |
A |
G |
8: 84,822,438 (GRCm39) |
E912G |
possibly damaging |
Het |
| Rngtt |
T |
C |
4: 33,337,936 (GRCm39) |
V253A |
possibly damaging |
Het |
| Slc2a9 |
A |
G |
5: 38,594,002 (GRCm39) |
Y169H |
possibly damaging |
Het |
| Slc49a4 |
G |
T |
16: 35,555,928 (GRCm39) |
D177E |
probably benign |
Het |
| Susd4 |
C |
A |
1: 182,719,645 (GRCm39) |
T420K |
probably benign |
Het |
| Tdrd3 |
G |
A |
14: 87,749,118 (GRCm39) |
G676D |
probably damaging |
Het |
| Tec |
T |
C |
5: 72,946,587 (GRCm39) |
K47E |
probably damaging |
Het |
| Tenm2 |
C |
A |
11: 35,942,743 (GRCm39) |
G1308* |
probably null |
Het |
| Tmprss15 |
A |
T |
16: 78,784,629 (GRCm39) |
D675E |
probably benign |
Het |
| Vmn1r84 |
A |
G |
7: 12,096,346 (GRCm39) |
C104R |
probably damaging |
Het |
| Vmn2r49 |
T |
A |
7: 9,710,378 (GRCm39) |
M785L |
probably benign |
Het |
| Vmn2r85 |
G |
T |
10: 130,261,449 (GRCm39) |
T296K |
probably damaging |
Het |
| Wdr3 |
C |
T |
3: 100,059,290 (GRCm39) |
S343N |
probably benign |
Het |
| Yju2 |
G |
T |
17: 56,269,051 (GRCm39) |
G53V |
probably damaging |
Het |
| Zfp143 |
A |
T |
7: 109,690,993 (GRCm39) |
M515L |
possibly damaging |
Het |
| Zfp735 |
A |
G |
11: 73,580,626 (GRCm39) |
I42V |
probably benign |
Het |
| Zswim5 |
A |
T |
4: 116,819,749 (GRCm39) |
M385L |
probably benign |
Het |
|
| Other mutations in Kdm1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00587:Kdm1b
|
APN |
13 |
47,222,016 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00924:Kdm1b
|
APN |
13 |
47,221,956 (GRCm39) |
missense |
probably benign |
|
|
IGL01553:Kdm1b
|
APN |
13 |
47,234,024 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01663:Kdm1b
|
APN |
13 |
47,227,213 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02385:Kdm1b
|
APN |
13 |
47,221,982 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02826:Kdm1b
|
APN |
13 |
47,233,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03257:Kdm1b
|
APN |
13 |
47,202,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0052:Kdm1b
|
UTSW |
13 |
47,217,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0319:Kdm1b
|
UTSW |
13 |
47,207,195 (GRCm39) |
missense |
probably benign |
|
|
R0426:Kdm1b
|
UTSW |
13 |
47,217,720 (GRCm39) |
splice site |
probably benign |
|
|
R0599:Kdm1b
|
UTSW |
13 |
47,212,286 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0764:Kdm1b
|
UTSW |
13 |
47,222,079 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1163:Kdm1b
|
UTSW |
13 |
47,225,398 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1543:Kdm1b
|
UTSW |
13 |
47,221,997 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1584:Kdm1b
|
UTSW |
13 |
47,217,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1627:Kdm1b
|
UTSW |
13 |
47,217,707 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1669:Kdm1b
|
UTSW |
13 |
47,222,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1758:Kdm1b
|
UTSW |
13 |
47,214,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1860:Kdm1b
|
UTSW |
13 |
47,202,666 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1907:Kdm1b
|
UTSW |
13 |
47,217,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2225:Kdm1b
|
UTSW |
13 |
47,217,564 (GRCm39) |
frame shift |
probably null |
|
|
R2239:Kdm1b
|
UTSW |
13 |
47,227,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2271:Kdm1b
|
UTSW |
13 |
47,217,564 (GRCm39) |
frame shift |
probably null |
|
|
R2302:Kdm1b
|
UTSW |
13 |
47,217,564 (GRCm39) |
frame shift |
probably null |
|
|
R2303:Kdm1b
|
UTSW |
13 |
47,217,564 (GRCm39) |
frame shift |
probably null |
|
|
R2380:Kdm1b
|
UTSW |
13 |
47,227,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2442:Kdm1b
|
UTSW |
13 |
47,216,451 (GRCm39) |
missense |
probably benign |
0.32 |
|
R3022:Kdm1b
|
UTSW |
13 |
47,216,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3054:Kdm1b
|
UTSW |
13 |
47,216,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3545:Kdm1b
|
UTSW |
13 |
47,216,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3546:Kdm1b
|
UTSW |
13 |
47,216,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3548:Kdm1b
|
UTSW |
13 |
47,216,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4094:Kdm1b
|
UTSW |
13 |
47,216,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4419:Kdm1b
|
UTSW |
13 |
47,216,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4420:Kdm1b
|
UTSW |
13 |
47,216,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4502:Kdm1b
|
UTSW |
13 |
47,216,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4547:Kdm1b
|
UTSW |
13 |
47,216,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4548:Kdm1b
|
UTSW |
13 |
47,216,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4785:Kdm1b
|
UTSW |
13 |
47,216,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4793:Kdm1b
|
UTSW |
13 |
47,216,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4804:Kdm1b
|
UTSW |
13 |
47,216,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4882:Kdm1b
|
UTSW |
13 |
47,214,369 (GRCm39) |
missense |
probably benign |
|
|
R4906:Kdm1b
|
UTSW |
13 |
47,216,620 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4965:Kdm1b
|
UTSW |
13 |
47,227,843 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5039:Kdm1b
|
UTSW |
13 |
47,230,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5098:Kdm1b
|
UTSW |
13 |
47,216,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5265:Kdm1b
|
UTSW |
13 |
47,216,445 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5541:Kdm1b
|
UTSW |
13 |
47,232,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5814:Kdm1b
|
UTSW |
13 |
47,216,622 (GRCm39) |
splice site |
probably null |
|
|
R6046:Kdm1b
|
UTSW |
13 |
47,232,729 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6798:Kdm1b
|
UTSW |
13 |
47,222,012 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6903:Kdm1b
|
UTSW |
13 |
47,227,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7831:Kdm1b
|
UTSW |
13 |
47,204,098 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7973:Kdm1b
|
UTSW |
13 |
47,230,922 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8181:Kdm1b
|
UTSW |
13 |
47,205,377 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8248:Kdm1b
|
UTSW |
13 |
47,225,354 (GRCm39) |
intron |
probably benign |
|
|
R8821:Kdm1b
|
UTSW |
13 |
47,217,617 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8831:Kdm1b
|
UTSW |
13 |
47,217,617 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8842:Kdm1b
|
UTSW |
13 |
47,231,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8861:Kdm1b
|
UTSW |
13 |
47,217,582 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8885:Kdm1b
|
UTSW |
13 |
47,207,184 (GRCm39) |
nonsense |
probably null |
|
|
R9038:Kdm1b
|
UTSW |
13 |
47,202,770 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9132:Kdm1b
|
UTSW |
13 |
47,225,458 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9268:Kdm1b
|
UTSW |
13 |
47,217,705 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9616:Kdm1b
|
UTSW |
13 |
47,234,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation