Incidental Mutation 'IGL02385:Kdm1b'
| ID |
291523 |
| 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 essential
(E-score: 0.504)
|
| Stock # |
IGL02385
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
47196849-47238085 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47221982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 474
(I474V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037025]
|
| AlphaFold |
Q8CIG3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037025
AA Change: I474V
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000038373
Gene: ENSMUSG00000038080
AA Change: I474V
| 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: ENSMUST00000128977
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,201,630 (GRCm39) |
D351E |
probably damaging |
Het |
| Adad2 |
A |
G |
8: 120,341,773 (GRCm39) |
|
probably benign |
Het |
| Adamts8 |
A |
G |
9: 30,873,026 (GRCm39) |
N744D |
probably benign |
Het |
| Atad5 |
C |
T |
11: 79,985,453 (GRCm39) |
T180I |
probably benign |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Bcl9 |
A |
T |
3: 97,116,594 (GRCm39) |
I700K |
probably benign |
Het |
| Bcr |
T |
C |
10: 74,981,235 (GRCm39) |
S685P |
probably damaging |
Het |
| Cd36 |
A |
G |
5: 18,019,717 (GRCm39) |
V128A |
probably benign |
Het |
| Cfap20dc |
A |
G |
14: 8,510,920 (GRCm38) |
V498A |
possibly damaging |
Het |
| Chd2 |
T |
C |
7: 73,085,570 (GRCm39) |
Y1688C |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 15,953,275 (GRCm39) |
V3402A |
probably benign |
Het |
| Dsg3 |
T |
C |
18: 20,660,771 (GRCm39) |
V370A |
probably damaging |
Het |
| Dus4l |
A |
G |
12: 31,690,674 (GRCm39) |
|
probably benign |
Het |
| Fcrlb |
A |
G |
1: 170,735,168 (GRCm39) |
S320P |
probably damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,887,348 (GRCm39) |
D616G |
probably benign |
Het |
| Fxr2 |
C |
T |
11: 69,543,095 (GRCm39) |
R631C |
possibly damaging |
Het |
| Gltpd2 |
T |
A |
11: 70,410,822 (GRCm39) |
F152I |
probably damaging |
Het |
| Gpt2 |
T |
A |
8: 86,242,782 (GRCm39) |
|
probably null |
Het |
| Hsd3b6 |
A |
T |
3: 98,713,888 (GRCm39) |
I137K |
possibly damaging |
Het |
| Kcna6 |
A |
G |
6: 126,715,917 (GRCm39) |
V324A |
probably benign |
Het |
| Kcnu1 |
C |
T |
8: 26,422,298 (GRCm39) |
L188F |
probably damaging |
Het |
| Kifap3 |
C |
T |
1: 163,693,013 (GRCm39) |
Q602* |
probably null |
Het |
| Lrp4 |
T |
A |
2: 91,305,065 (GRCm39) |
C231S |
possibly damaging |
Het |
| Lrrc63 |
T |
C |
14: 75,323,640 (GRCm39) |
D528G |
probably benign |
Het |
| Nosip |
C |
A |
7: 44,726,156 (GRCm39) |
R240S |
possibly damaging |
Het |
| Or11g26 |
T |
C |
14: 50,752,900 (GRCm39) |
S80P |
probably damaging |
Het |
| Or4f57 |
G |
A |
2: 111,790,603 (GRCm39) |
P272S |
probably benign |
Het |
| Or4k41 |
A |
G |
2: 111,279,695 (GRCm39) |
D70G |
probably damaging |
Het |
| Orc5 |
A |
T |
5: 22,731,438 (GRCm39) |
D231E |
probably damaging |
Het |
| Poli |
A |
T |
18: 70,659,645 (GRCm39) |
M62K |
possibly damaging |
Het |
| Ppp1r13b |
A |
C |
12: 111,801,477 (GRCm39) |
S402R |
probably damaging |
Het |
| Prl3b1 |
T |
C |
13: 27,433,366 (GRCm39) |
S174P |
possibly damaging |
Het |
| Ptpra |
T |
C |
2: 130,382,393 (GRCm39) |
|
probably benign |
Het |
| Sfpq |
T |
A |
4: 126,919,929 (GRCm39) |
|
probably null |
Het |
| Sh3bp1 |
T |
A |
15: 78,790,088 (GRCm39) |
|
probably benign |
Het |
| Slc7a2 |
T |
G |
8: 41,352,048 (GRCm39) |
V37G |
probably damaging |
Het |
| Smc1a |
A |
T |
X: 150,820,655 (GRCm39) |
E794D |
possibly damaging |
Het |
| Sox6 |
T |
C |
7: 115,149,274 (GRCm39) |
R366G |
possibly damaging |
Het |
| Spaca7 |
A |
G |
8: 12,636,498 (GRCm39) |
N108S |
possibly damaging |
Het |
| Spon1 |
T |
G |
7: 113,365,567 (GRCm39) |
M1R |
probably null |
Het |
| Sult6b2 |
T |
C |
6: 142,747,498 (GRCm39) |
R84G |
probably benign |
Het |
| Syt2 |
A |
G |
1: 134,673,553 (GRCm39) |
N299S |
probably benign |
Het |
| Syvn1 |
T |
C |
19: 6,098,570 (GRCm39) |
V104A |
probably damaging |
Het |
| Tbpl1 |
A |
G |
10: 22,583,568 (GRCm39) |
L134P |
probably damaging |
Het |
| Tex11 |
A |
T |
X: 99,920,135 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf21 |
A |
G |
17: 43,350,942 (GRCm39) |
S369G |
probably damaging |
Het |
| Tram1l1 |
T |
C |
3: 124,115,707 (GRCm39) |
V289A |
probably benign |
Het |
| Ttyh3 |
A |
T |
5: 140,619,060 (GRCm39) |
F277L |
probably benign |
Het |
| Vmn2r17 |
T |
G |
5: 109,582,247 (GRCm39) |
N545K |
probably damaging |
Het |
| Wdr20 |
A |
T |
12: 110,759,657 (GRCm39) |
H181L |
probably benign |
Het |
| Zscan20 |
A |
G |
4: 128,498,392 (GRCm39) |
M2T |
possibly damaging |
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 |
|
IGL02505:Kdm1b
|
APN |
13 |
47,214,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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