Incidental Mutation 'R8181:Kdm1b'
| ID |
634640 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kdm1b
|
| Ensembl Gene |
ENSMUSG00000038080 |
| Gene Name |
lysine (K)-specific demethylase 1B |
| Synonyms |
Aof1, 4632428N09Rik |
| MMRRC Submission |
067605-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.406)
|
| Stock # |
R8181 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
47196849-47238085 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 47205377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037025]
[ENSMUST00000143868]
|
| AlphaFold |
Q8CIG3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037025
|
| SMART Domains |
Protein: ENSMUSP00000038373
Gene: ENSMUSG00000038080
| 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 |
probably null
Transcript: ENSMUST00000143868
|
| SMART Domains |
Protein: ENSMUSP00000117793
Gene: ENSMUSG00000038080
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-CW
|
137 |
175 |
3.6e-13 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (73/73) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
A |
3: 137,774,156 (GRCm39) |
S1115N |
probably damaging |
Het |
| Abca1 |
A |
G |
4: 53,059,303 (GRCm39) |
V1551A |
probably benign |
Het |
| Adam30 |
T |
C |
3: 98,070,291 (GRCm39) |
I708T |
probably benign |
Het |
| Aknad1 |
T |
A |
3: 108,659,328 (GRCm39) |
L114H |
possibly damaging |
Het |
| Akr1c18 |
G |
A |
13: 4,185,262 (GRCm39) |
S290L |
probably benign |
Het |
| Aldh18a1 |
G |
T |
19: 40,545,881 (GRCm39) |
D635E |
probably benign |
Het |
| Bax |
G |
T |
7: 45,115,698 (GRCm39) |
P23Q |
probably null |
Het |
| Bhlha15 |
A |
T |
5: 144,128,244 (GRCm39) |
N119Y |
probably damaging |
Het |
| Boll |
T |
A |
1: 55,402,478 (GRCm39) |
M1L |
probably benign |
Het |
| C2cd2 |
A |
T |
16: 97,693,502 (GRCm39) |
I123N |
probably benign |
Het |
| Cacnb4 |
A |
C |
2: 52,364,997 (GRCm39) |
S89A |
probably benign |
Het |
| Calca |
A |
G |
7: 114,234,387 (GRCm39) |
C21R |
probably benign |
Het |
| Calcr |
T |
C |
6: 3,693,899 (GRCm39) |
I325M |
probably benign |
Het |
| Card14 |
T |
A |
11: 119,212,718 (GRCm39) |
F94Y |
probably damaging |
Het |
| Chil3 |
A |
C |
3: 106,057,203 (GRCm39) |
I247S |
probably damaging |
Het |
| Clca3b |
T |
C |
3: 144,544,898 (GRCm39) |
N363S |
probably benign |
Het |
| Cnksr3 |
A |
G |
10: 7,070,475 (GRCm39) |
V494A |
possibly damaging |
Het |
| Cog4 |
A |
G |
8: 111,578,717 (GRCm39) |
|
probably null |
Het |
| Crybg1 |
T |
A |
10: 43,862,322 (GRCm39) |
Y1484F |
probably damaging |
Het |
| Dglucy |
A |
G |
12: 100,816,370 (GRCm39) |
|
probably null |
Het |
| Dmp1 |
T |
A |
5: 104,359,380 (GRCm39) |
|
probably null |
Het |
| Dscaml1 |
T |
A |
9: 45,658,140 (GRCm39) |
I1637N |
possibly damaging |
Het |
| Ercc6 |
T |
A |
14: 32,279,905 (GRCm39) |
I640N |
probably damaging |
Het |
| Esp16 |
G |
T |
17: 39,850,707 (GRCm39) |
E29* |
probably null |
Het |
| Fam149a |
T |
C |
8: 45,834,755 (GRCm39) |
I15V |
possibly damaging |
Het |
| Flt4 |
T |
A |
11: 49,525,723 (GRCm39) |
I724N |
probably damaging |
Het |
| Glb1 |
C |
T |
9: 114,259,429 (GRCm39) |
R202C |
probably damaging |
Het |
| Gmpr2 |
C |
A |
14: 55,910,441 (GRCm39) |
S41* |
probably null |
Het |
| Golgb1 |
T |
A |
16: 36,737,192 (GRCm39) |
D2187E |
probably damaging |
Het |
| Gpsm2 |
A |
G |
3: 108,597,080 (GRCm39) |
|
probably null |
Het |
| Helz |
A |
G |
11: 107,563,399 (GRCm39) |
D1613G |
unknown |
Het |
| Hemgn |
A |
C |
4: 46,396,504 (GRCm39) |
M244R |
possibly damaging |
Het |
| Hsd3b1 |
A |
T |
3: 98,763,453 (GRCm39) |
V56E |
probably damaging |
Het |
| Jup |
A |
T |
11: 100,267,751 (GRCm39) |
I524N |
probably damaging |
Het |
| Kif11 |
A |
T |
19: 37,379,095 (GRCm39) |
|
probably null |
Het |
| Lars1 |
A |
T |
18: 42,361,835 (GRCm39) |
W591R |
probably damaging |
Het |
| Lrtm1 |
T |
A |
14: 28,743,894 (GRCm39) |
S121T |
probably damaging |
Het |
| Med12l |
A |
C |
3: 59,169,389 (GRCm39) |
D1593A |
probably damaging |
Het |
| Med17 |
A |
T |
9: 15,188,928 (GRCm39) |
D112E |
possibly damaging |
Het |
| Mettl2 |
T |
A |
11: 105,019,866 (GRCm39) |
F168I |
probably benign |
Het |
| Mmp9 |
A |
T |
2: 164,792,365 (GRCm39) |
D323V |
probably damaging |
Het |
| Mpzl2 |
C |
T |
9: 44,961,006 (GRCm39) |
T214I |
probably benign |
Het |
| Ms4a15 |
T |
C |
19: 10,958,670 (GRCm39) |
H134R |
probably benign |
Het |
| Ms4a6d |
T |
A |
19: 11,580,653 (GRCm39) |
I2F |
probably damaging |
Het |
| Muc3a |
G |
A |
5: 137,244,535 (GRCm39) |
P206S |
unknown |
Het |
| Nectin2 |
C |
A |
7: 19,458,733 (GRCm39) |
L359F |
probably damaging |
Het |
| Or2y6 |
C |
A |
11: 52,104,096 (GRCm39) |
C240F |
probably damaging |
Het |
| Or4f53 |
T |
A |
2: 111,087,918 (GRCm39) |
F153I |
probably benign |
Het |
| Pgm2 |
G |
T |
5: 64,269,467 (GRCm39) |
C518F |
possibly damaging |
Het |
| Plppr4 |
A |
G |
3: 117,116,114 (GRCm39) |
V581A |
probably damaging |
Het |
| Prkra |
G |
C |
2: 76,469,634 (GRCm39) |
L142V |
probably damaging |
Het |
| Prpf38a |
G |
A |
4: 108,434,195 (GRCm39) |
T74I |
probably benign |
Het |
| Ptprs |
T |
A |
17: 56,736,064 (GRCm39) |
N635I |
probably damaging |
Het |
| Rxfp2 |
A |
G |
5: 149,987,201 (GRCm39) |
N361D |
probably benign |
Het |
| Ryr3 |
T |
G |
2: 112,608,588 (GRCm39) |
I2351L |
probably damaging |
Het |
| Sfmbt2 |
A |
T |
2: 10,580,190 (GRCm39) |
T618S |
probably benign |
Het |
| Six6 |
A |
G |
12: 72,986,906 (GRCm39) |
D26G |
probably damaging |
Het |
| Slc20a1 |
T |
C |
2: 129,051,047 (GRCm39) |
L568P |
probably damaging |
Het |
| Slx4ip |
T |
A |
2: 136,842,104 (GRCm39) |
C10S |
probably damaging |
Het |
| Sox13 |
G |
T |
1: 133,311,498 (GRCm39) |
T578K |
probably benign |
Het |
| Spire2 |
A |
T |
8: 124,088,042 (GRCm39) |
S509C |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,074,808 (GRCm39) |
D1521G |
possibly damaging |
Het |
| Sult2a7 |
T |
C |
7: 14,204,098 (GRCm39) |
T207A |
probably benign |
Het |
| Sun2 |
A |
G |
15: 79,609,721 (GRCm39) |
I708T |
probably damaging |
Het |
| Supt5 |
T |
C |
7: 28,030,899 (GRCm39) |
E44G |
unknown |
Het |
| Thsd1 |
A |
G |
8: 22,733,022 (GRCm39) |
E23G |
probably damaging |
Het |
| Ticrr |
T |
C |
7: 79,310,728 (GRCm39) |
V214A |
possibly damaging |
Het |
| Vmn2r74 |
A |
T |
7: 85,605,324 (GRCm39) |
F441L |
probably damaging |
Het |
| Zfp30 |
A |
G |
7: 29,493,080 (GRCm39) |
T526A |
probably benign |
Het |
| Zfp518a |
G |
T |
19: 40,902,415 (GRCm39) |
Q781H |
probably damaging |
Het |
| Zmynd11 |
A |
G |
13: 9,739,687 (GRCm39) |
V434A |
probably benign |
Het |
| Zranb1 |
A |
G |
7: 132,585,508 (GRCm39) |
D652G |
probably 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 |
|
IGL02385:Kdm1b
|
APN |
13 |
47,221,982 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGCTCAAGTTGTAGTGTG -3'
(R):5'- AGTGTCCATCCAAAGACATGG -3'
Sequencing Primer
(F):5'- CTCAAGTTGTAGTGTGGAAACC -3'
(R):5'- TCCAAAGACATGGGTGGGTAAAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation