Incidental Mutation 'R9559:Kdm4b'
| ID |
720937 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kdm4b
|
| Ensembl Gene |
ENSMUSG00000024201 |
| Gene Name |
lysine (K)-specific demethylase 4B |
| Synonyms |
Jmjd2b, 4732474L06Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9559 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
56633062-56709870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56693228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 355
(L355P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025036
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025036]
[ENSMUST00000086835]
|
| AlphaFold |
Q91VY5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025036
AA Change: L355P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025036
Gene: ENSMUSG00000024201
AA Change: L355P
| Domain | Start | End | E-Value | Type |
|---|
|
JmjN
|
14 |
56 |
5.88e-17 |
SMART |
|
low complexity region
|
61 |
68 |
N/A |
INTRINSIC |
|
JmjC
|
143 |
309 |
1.19e-59 |
SMART |
|
low complexity region
|
349 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
399 |
N/A |
INTRINSIC |
|
low complexity region
|
443 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
537 |
N/A |
INTRINSIC |
|
PHD
|
719 |
777 |
2.5e-5 |
SMART |
|
PHD
|
839 |
895 |
7.07e-5 |
SMART |
|
TUDOR
|
905 |
962 |
1.68e-9 |
SMART |
|
TUDOR
|
963 |
1019 |
7.94e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086835
AA Change: L355P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000084045
Gene: ENSMUSG00000024201
AA Change: L355P
| Domain | Start | End | E-Value | Type |
|---|
|
JmjN
|
14 |
56 |
5.88e-17 |
SMART |
|
low complexity region
|
61 |
68 |
N/A |
INTRINSIC |
|
JmjC
|
143 |
309 |
1.19e-59 |
SMART |
|
low complexity region
|
349 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
399 |
N/A |
INTRINSIC |
|
low complexity region
|
443 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
537 |
N/A |
INTRINSIC |
|
PHD
|
712 |
770 |
2.5e-5 |
SMART |
|
PHD
|
832 |
888 |
7.07e-5 |
SMART |
|
TUDOR
|
898 |
954 |
2.31e-12 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted allele lacking demethylase activity exhibit no gross abnormalities. Mice homozygous for a conditional allele activated in mammary gland epithelial cells exhibit delayed mammary gland development with reduced branching. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
G |
A |
7: 120,021,019 (GRCm39) |
|
probably null |
Het |
| Ahnak2 |
C |
T |
12: 112,749,782 (GRCm39) |
|
probably null |
Het |
| Arhgef37 |
A |
T |
18: 61,640,267 (GRCm39) |
|
probably null |
Het |
| Asb14 |
T |
C |
14: 26,637,052 (GRCm39) |
V598A |
possibly damaging |
Het |
| Baz1b |
T |
A |
5: 135,216,532 (GRCm39) |
F10Y |
probably benign |
Het |
| Bbc3 |
T |
C |
7: 16,047,660 (GRCm39) |
V128A |
probably benign |
Het |
| C130073F10Rik |
T |
A |
4: 101,747,946 (GRCm39) |
Y76F |
possibly damaging |
Het |
| Cdc42bpa |
G |
A |
1: 179,939,459 (GRCm39) |
|
probably null |
Het |
| Cfh |
G |
T |
1: 140,030,275 (GRCm39) |
P884Q |
probably benign |
Het |
| Cltc |
T |
C |
11: 86,613,086 (GRCm39) |
Y479C |
probably damaging |
Het |
| Col18a1 |
C |
T |
10: 76,913,630 (GRCm39) |
G477E |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,786,360 (GRCm39) |
N530S |
unknown |
Het |
| Csmd2 |
G |
T |
4: 128,438,561 (GRCm39) |
G3047C |
|
Het |
| Cyb5r3 |
C |
A |
15: 83,043,123 (GRCm39) |
E190* |
probably null |
Het |
| Dnah3 |
A |
T |
7: 119,650,951 (GRCm39) |
V983D |
probably benign |
Het |
| Fcer1a |
T |
G |
1: 173,052,884 (GRCm39) |
Y104S |
possibly damaging |
Het |
| Fer1l6 |
A |
G |
15: 58,429,759 (GRCm39) |
T169A |
possibly damaging |
Het |
| Gimap9 |
A |
T |
6: 48,655,134 (GRCm39) |
K240N |
probably benign |
Het |
| Gmeb1 |
A |
C |
4: 131,953,140 (GRCm39) |
V542G |
probably benign |
Het |
| Grb10 |
C |
A |
11: 11,895,535 (GRCm39) |
R318L |
probably damaging |
Het |
| Gucy1b1 |
T |
A |
3: 81,947,054 (GRCm39) |
D385V |
possibly damaging |
Het |
| Hdgfl1 |
C |
T |
13: 26,953,239 (GRCm39) |
G278E |
probably damaging |
Het |
| Il18r1 |
T |
A |
1: 40,528,793 (GRCm39) |
I279K |
probably benign |
Het |
| Il21r |
A |
G |
7: 125,232,027 (GRCm39) |
D485G |
probably damaging |
Het |
| Jarid2 |
C |
T |
13: 45,068,253 (GRCm39) |
R1092W |
possibly damaging |
Het |
| Kif26a |
C |
T |
12: 112,142,004 (GRCm39) |
R753W |
probably damaging |
Het |
| Krtcap2 |
C |
T |
3: 89,154,178 (GRCm39) |
T33I |
probably damaging |
Het |
| Mettl17 |
G |
A |
14: 52,129,009 (GRCm39) |
|
probably null |
Het |
| Mov10 |
A |
G |
3: 104,708,277 (GRCm39) |
F491L |
|
Het |
| Mterf1a |
C |
T |
5: 3,941,807 (GRCm39) |
W20* |
probably null |
Het |
| Nck2 |
T |
C |
1: 43,593,207 (GRCm39) |
V138A |
probably damaging |
Het |
| Or2h2c |
C |
T |
17: 37,422,509 (GRCm39) |
V122M |
possibly damaging |
Het |
| Or5ac24 |
C |
A |
16: 59,165,368 (GRCm39) |
G232V |
probably damaging |
Het |
| Or5ak24 |
A |
C |
2: 85,260,753 (GRCm39) |
V140G |
possibly damaging |
Het |
| Or7e173 |
A |
G |
9: 19,939,216 (GRCm39) |
V6A |
probably benign |
Het |
| Osmr |
A |
G |
15: 6,882,027 (GRCm39) |
V39A |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,899,017 (GRCm39) |
H998R |
probably damaging |
Het |
| Prb1a |
G |
A |
6: 132,184,388 (GRCm39) |
S415F |
unknown |
Het |
| Prl3d1 |
C |
T |
13: 27,280,470 (GRCm39) |
T73I |
probably benign |
Het |
| Scgn |
A |
G |
13: 24,137,921 (GRCm39) |
L250P |
probably damaging |
Het |
| Scyl3 |
T |
C |
1: 163,779,773 (GRCm39) |
I580T |
probably benign |
Het |
| Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
| Shank2 |
A |
T |
7: 143,585,041 (GRCm39) |
Q14L |
probably benign |
Het |
| Slc22a12 |
T |
A |
19: 6,587,686 (GRCm39) |
N423Y |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,473,056 (GRCm39) |
S951T |
probably benign |
Het |
| Ubash3b |
G |
A |
9: 40,954,926 (GRCm39) |
P195S |
probably damaging |
Het |
| Vmn1r61 |
A |
G |
7: 5,613,498 (GRCm39) |
F272S |
probably damaging |
Het |
| Zbtb41 |
A |
T |
1: 139,358,053 (GRCm39) |
I454F |
probably benign |
Het |
| Zfp112 |
G |
T |
7: 23,826,108 (GRCm39) |
C696F |
probably damaging |
Het |
|
| Other mutations in Kdm4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01293:Kdm4b
|
APN |
17 |
56,660,019 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL01408:Kdm4b
|
APN |
17 |
56,660,518 (GRCm39) |
splice site |
probably benign |
|
|
IGL01610:Kdm4b
|
APN |
17 |
56,660,522 (GRCm39) |
splice site |
probably benign |
|
|
IGL01936:Kdm4b
|
APN |
17 |
56,704,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01964:Kdm4b
|
APN |
17 |
56,696,256 (GRCm39) |
splice site |
probably null |
|
|
IGL02151:Kdm4b
|
APN |
17 |
56,703,234 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02596:Kdm4b
|
APN |
17 |
56,706,706 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02975:Kdm4b
|
APN |
17 |
56,682,996 (GRCm39) |
splice site |
probably null |
|
|
IGL03172:Kdm4b
|
APN |
17 |
56,708,649 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Coelestinum
|
UTSW |
17 |
56,660,091 (GRCm39) |
missense |
probably benign |
0.31 |
|
mistflower
|
UTSW |
17 |
56,696,564 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0193:Kdm4b
|
UTSW |
17 |
56,700,952 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0311:Kdm4b
|
UTSW |
17 |
56,693,200 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0331:Kdm4b
|
UTSW |
17 |
56,693,289 (GRCm39) |
splice site |
probably benign |
|
|
R1109:Kdm4b
|
UTSW |
17 |
56,706,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1499:Kdm4b
|
UTSW |
17 |
56,707,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1895:Kdm4b
|
UTSW |
17 |
56,704,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1985:Kdm4b
|
UTSW |
17 |
56,708,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2087:Kdm4b
|
UTSW |
17 |
56,696,564 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2185:Kdm4b
|
UTSW |
17 |
56,700,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2904:Kdm4b
|
UTSW |
17 |
56,662,884 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3792:Kdm4b
|
UTSW |
17 |
56,662,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3897:Kdm4b
|
UTSW |
17 |
56,703,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4661:Kdm4b
|
UTSW |
17 |
56,706,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4685:Kdm4b
|
UTSW |
17 |
56,708,675 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4716:Kdm4b
|
UTSW |
17 |
56,693,178 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4790:Kdm4b
|
UTSW |
17 |
56,708,618 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4864:Kdm4b
|
UTSW |
17 |
56,660,091 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5700:Kdm4b
|
UTSW |
17 |
56,658,700 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5963:Kdm4b
|
UTSW |
17 |
56,706,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6003:Kdm4b
|
UTSW |
17 |
56,703,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6029:Kdm4b
|
UTSW |
17 |
56,703,576 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6769:Kdm4b
|
UTSW |
17 |
56,658,754 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6771:Kdm4b
|
UTSW |
17 |
56,658,754 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6927:Kdm4b
|
UTSW |
17 |
56,706,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7041:Kdm4b
|
UTSW |
17 |
56,703,592 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7230:Kdm4b
|
UTSW |
17 |
56,676,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7275:Kdm4b
|
UTSW |
17 |
56,703,333 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7454:Kdm4b
|
UTSW |
17 |
56,696,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7455:Kdm4b
|
UTSW |
17 |
56,703,657 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7457:Kdm4b
|
UTSW |
17 |
56,703,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8171:Kdm4b
|
UTSW |
17 |
56,696,534 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8367:Kdm4b
|
UTSW |
17 |
56,662,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8524:Kdm4b
|
UTSW |
17 |
56,706,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8810:Kdm4b
|
UTSW |
17 |
56,706,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9260:Kdm4b
|
UTSW |
17 |
56,701,775 (GRCm39) |
missense |
probably benign |
|
|
R9459:Kdm4b
|
UTSW |
17 |
56,706,509 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9466:Kdm4b
|
UTSW |
17 |
56,696,548 (GRCm39) |
missense |
probably benign |
0.04 |
|
X0024:Kdm4b
|
UTSW |
17 |
56,708,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCATCTCATACTGGGCTGTG -3'
(R):5'- ATTCAGATGCCCGGGGAAAG -3'
Sequencing Primer
(F):5'- CTGGTGTGAGACTCAGTGCCTC -3'
(R):5'- AAAGGGTCTGAGGCTCTGC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation