Incidental Mutation 'R4463:Cdkn2d'
| ID |
330231 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdkn2d
|
| Ensembl Gene |
ENSMUSG00000096472 |
| Gene Name |
cyclin dependent kinase inhibitor 2D |
| Synonyms |
INK4d, p19, p19INK4d, INK4d |
| MMRRC Submission |
041721-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.260)
|
| Stock # |
R4463 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21199759-21202553 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 21202185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 21
(V21L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150701
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003397]
[ENSMUST00000038671]
[ENSMUST00000086374]
[ENSMUST00000115433]
[ENSMUST00000215619]
[ENSMUST00000213407]
[ENSMUST00000213762]
[ENSMUST00000184326]
|
| AlphaFold |
Q60773 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003397
|
| SMART Domains |
Protein: ENSMUSP00000003397
Gene: ENSMUSG00000003309
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Clat_adaptor_s
|
2 |
141 |
7.3e-9 |
PFAM |
|
Pfam:Adap_comp_sub
|
157 |
422 |
7.3e-93 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038671
|
| SMART Domains |
Protein: ENSMUSP00000039688
Gene: ENSMUSG00000035047
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
195 |
N/A |
INTRINSIC |
|
Pfam:Kri1
|
346 |
439 |
3.2e-27 |
PFAM |
|
Pfam:Kri1_C
|
507 |
595 |
8.4e-37 |
PFAM |
|
low complexity region
|
653 |
666 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000086374
AA Change: V21L
|
| SMART Domains |
Protein: ENSMUSP00000083561
Gene: ENSMUSG00000096472
AA Change: V21L
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
41 |
69 |
1.01e2 |
SMART |
|
ANK
|
73 |
102 |
1.73e-4 |
SMART |
|
ANK
|
106 |
134 |
8.89e1 |
SMART |
|
Blast:ANK
|
138 |
166 |
1e-9 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115433
|
| SMART Domains |
Protein: ENSMUSP00000111093
Gene: ENSMUSG00000003309
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Clat_adaptor_s
|
2 |
141 |
7.4e-9 |
PFAM |
|
Pfam:Adap_comp_sub
|
157 |
424 |
4.7e-95 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183503
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183665
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183912
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184615
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215619
AA Change: V21L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213407
AA Change: V21L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213762
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184326
|
| SMART Domains |
Protein: ENSMUSP00000139184
Gene: ENSMUSG00000035047
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
71 |
N/A |
INTRINSIC |
|
Pfam:Kri1
|
207 |
317 |
4.4e-27 |
PFAM |
|
Pfam:Kri1_C
|
381 |
472 |
3.6e-36 |
PFAM |
|
low complexity region
|
529 |
542 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0587 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (57/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to form a stable complex with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. The abundance of the transcript of this gene was found to oscillate in a cell-cycle dependent manner with the lowest expression at mid G1 and a maximal expression during S phase. The negative regulation of the cell cycle involved in this protein was shown to participate in repressing neuronal proliferation, as well as spermatogenesis. Two alternatively spliced variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Both female and male homozygous null mice are fertile in spite of testicular atrophy and increased male germ cell apoptosis due to delayed meiosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
C |
5: 8,769,981 (GRCm39) |
|
probably benign |
Het |
| Abcc8 |
T |
C |
7: 45,756,005 (GRCm39) |
|
probably null |
Het |
| Alox12e |
A |
G |
11: 70,209,082 (GRCm39) |
L388P |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,382,748 (GRCm39) |
S27T |
possibly damaging |
Het |
| Capn2 |
G |
A |
1: 182,307,329 (GRCm39) |
|
probably benign |
Het |
| Catspere1 |
G |
A |
1: 177,765,279 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc158 |
T |
C |
5: 92,782,159 (GRCm39) |
D820G |
probably null |
Het |
| Chd9 |
T |
A |
8: 91,705,627 (GRCm39) |
D761E |
probably benign |
Het |
| Chst8 |
T |
C |
7: 34,374,645 (GRCm39) |
D398G |
probably damaging |
Het |
| Clns1a |
T |
C |
7: 97,370,156 (GRCm39) |
|
probably benign |
Het |
| Cyp3a57 |
A |
T |
5: 145,318,084 (GRCm39) |
Y355F |
probably damaging |
Het |
| Cyp4f37 |
A |
G |
17: 32,846,710 (GRCm39) |
|
probably null |
Het |
| Eif1ad11 |
A |
G |
12: 87,994,129 (GRCm39) |
D119G |
probably benign |
Het |
| Eipr1 |
G |
A |
12: 28,909,338 (GRCm39) |
A202T |
probably damaging |
Het |
| Fam83a |
T |
C |
15: 57,858,655 (GRCm39) |
S232P |
probably damaging |
Het |
| Fastkd2 |
C |
T |
1: 63,774,968 (GRCm39) |
|
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,850,144 (GRCm39) |
M1197V |
probably benign |
Het |
| Fgfr4 |
G |
A |
13: 55,304,280 (GRCm39) |
V107I |
probably benign |
Het |
| Gatad1 |
G |
T |
5: 3,697,404 (GRCm39) |
S72R |
probably benign |
Het |
| Gli2 |
T |
C |
1: 118,763,738 (GRCm39) |
D1471G |
probably damaging |
Het |
| Gm1330 |
A |
T |
2: 148,845,064 (GRCm39) |
Y36* |
probably null |
Het |
| Gm29125 |
T |
C |
1: 80,360,903 (GRCm39) |
|
noncoding transcript |
Het |
| Idi1 |
G |
A |
13: 8,937,508 (GRCm39) |
|
probably benign |
Het |
| Itgbl1 |
C |
T |
14: 124,078,080 (GRCm39) |
T190I |
probably damaging |
Het |
| Kbtbd3 |
G |
A |
9: 4,331,257 (GRCm39) |
G544R |
probably damaging |
Het |
| Kifc3 |
T |
C |
8: 95,828,744 (GRCm39) |
T638A |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,068,695 (GRCm39) |
C798Y |
probably damaging |
Het |
| Larp6 |
C |
A |
9: 60,644,279 (GRCm39) |
H140N |
probably damaging |
Het |
| Mctp1 |
A |
T |
13: 76,860,206 (GRCm39) |
D108V |
probably damaging |
Het |
| Myzap |
G |
T |
9: 71,462,933 (GRCm39) |
D204E |
probably benign |
Het |
| Neb |
GCC |
GC |
2: 52,169,734 (GRCm39) |
|
probably null |
Het |
| Or13p8 |
T |
C |
4: 118,583,855 (GRCm39) |
V137A |
probably benign |
Het |
| Or1j20 |
T |
C |
2: 36,760,205 (GRCm39) |
I209T |
probably benign |
Het |
| Or4c102 |
T |
C |
2: 88,422,976 (GRCm39) |
V276A |
possibly damaging |
Het |
| Phka1 |
A |
G |
X: 101,588,990 (GRCm39) |
V818A |
probably benign |
Het |
| Plek |
T |
C |
11: 16,931,873 (GRCm39) |
Y326C |
possibly damaging |
Het |
| Pp2d1 |
A |
G |
17: 53,822,886 (GRCm39) |
I60T |
probably benign |
Het |
| Prmt3 |
T |
C |
7: 49,467,837 (GRCm39) |
Y348H |
probably damaging |
Het |
| Psg27 |
G |
T |
7: 18,291,010 (GRCm39) |
Q398K |
possibly damaging |
Het |
| Raver1 |
T |
C |
9: 21,003,123 (GRCm39) |
T51A |
probably benign |
Het |
| Ripk2 |
T |
C |
4: 16,151,968 (GRCm39) |
N197S |
possibly damaging |
Het |
| Sectm1a |
T |
A |
11: 120,960,477 (GRCm39) |
I113L |
probably benign |
Het |
| Slc2a4 |
G |
A |
11: 69,834,148 (GRCm39) |
|
probably benign |
Het |
| Snph |
A |
T |
2: 151,436,035 (GRCm39) |
S229T |
probably damaging |
Het |
| Stpg4 |
A |
G |
17: 87,697,101 (GRCm39) |
F183L |
probably benign |
Het |
| Tango6 |
A |
T |
8: 107,415,706 (GRCm39) |
T176S |
probably benign |
Het |
| Vmn1r196 |
A |
G |
13: 22,477,853 (GRCm39) |
Q164R |
probably benign |
Het |
| Vstm4 |
T |
A |
14: 32,639,833 (GRCm39) |
L236Q |
probably damaging |
Het |
| Xylb |
A |
G |
9: 119,215,433 (GRCm39) |
D462G |
probably benign |
Het |
| Zc2hc1c |
A |
G |
12: 85,337,071 (GRCm39) |
R243G |
probably damaging |
Het |
|
| Other mutations in Cdkn2d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02516:Cdkn2d
|
APN |
9 |
21,200,439 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0238:Cdkn2d
|
UTSW |
9 |
21,202,288 (GRCm39) |
start gained |
probably benign |
|
|
R0238:Cdkn2d
|
UTSW |
9 |
21,202,288 (GRCm39) |
start gained |
probably benign |
|
|
R2064:Cdkn2d
|
UTSW |
9 |
21,202,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4454:Cdkn2d
|
UTSW |
9 |
21,202,185 (GRCm39) |
missense |
probably benign |
|
|
R4455:Cdkn2d
|
UTSW |
9 |
21,202,185 (GRCm39) |
missense |
probably benign |
|
|
R4456:Cdkn2d
|
UTSW |
9 |
21,202,185 (GRCm39) |
missense |
probably benign |
|
|
R4457:Cdkn2d
|
UTSW |
9 |
21,202,185 (GRCm39) |
missense |
probably benign |
|
|
R4458:Cdkn2d
|
UTSW |
9 |
21,202,185 (GRCm39) |
missense |
probably benign |
|
|
R4462:Cdkn2d
|
UTSW |
9 |
21,202,185 (GRCm39) |
missense |
probably benign |
|
|
R4735:Cdkn2d
|
UTSW |
9 |
21,202,185 (GRCm39) |
missense |
probably benign |
|
|
R4854:Cdkn2d
|
UTSW |
9 |
21,202,223 (GRCm39) |
missense |
probably benign |
|
|
R5493:Cdkn2d
|
UTSW |
9 |
21,200,303 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7560:Cdkn2d
|
UTSW |
9 |
21,200,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8117:Cdkn2d
|
UTSW |
9 |
21,200,447 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9603:Cdkn2d
|
UTSW |
9 |
21,202,139 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9762:Cdkn2d
|
UTSW |
9 |
21,200,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGACAAGAGCTGAAAAGCCATC -3'
(R):5'- ATCATAGAGTTGGCCCTGGTG -3'
Sequencing Primer
(F):5'- GAGCTGAAAAGCCATCCCCTC -3'
(R):5'- TGGCACCGCAGTCCCTAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation