Incidental Mutation 'R7765:Adam28'
| ID |
598205 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam28
|
| Ensembl Gene |
ENSMUSG00000014725 |
| Gene Name |
a disintegrin and metallopeptidase domain 28 |
| Synonyms |
MDC-L, D430033C21Rik, Dtgn1, C130072N01Rik |
| MMRRC Submission |
045821-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.186)
|
| Stock # |
R7765 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
68843476-68893291 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 68846555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022642]
[ENSMUST00000111072]
[ENSMUST00000224039]
|
| AlphaFold |
Q9JLN6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022642
|
| SMART Domains |
Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
31 |
158 |
5.5e-34 |
PFAM |
|
Pfam:Reprolysin_4
|
205 |
387 |
1.5e-14 |
PFAM |
|
Pfam:Reprolysin_5
|
205 |
388 |
9.7e-19 |
PFAM |
|
Pfam:Reprolysin
|
206 |
402 |
5.6e-70 |
PFAM |
|
Pfam:Reprolysin_2
|
226 |
392 |
1e-16 |
PFAM |
|
Pfam:Reprolysin_3
|
230 |
353 |
1.2e-21 |
PFAM |
|
DISIN
|
419 |
494 |
2.1e-36 |
SMART |
|
ACR
|
495 |
623 |
1.84e-52 |
SMART |
|
EGF
|
631 |
660 |
3.01e0 |
SMART |
|
transmembrane domain
|
667 |
689 |
N/A |
INTRINSIC |
|
low complexity region
|
738 |
753 |
N/A |
INTRINSIC |
|
low complexity region
|
757 |
765 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111072
|
| SMART Domains |
Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
31 |
158 |
5.3e-34 |
PFAM |
|
Pfam:Reprolysin_4
|
205 |
387 |
1.5e-14 |
PFAM |
|
Pfam:Reprolysin_5
|
205 |
388 |
9.3e-19 |
PFAM |
|
Pfam:Reprolysin
|
206 |
402 |
5.3e-70 |
PFAM |
|
Pfam:Reprolysin_2
|
226 |
392 |
9.9e-17 |
PFAM |
|
Pfam:Reprolysin_3
|
230 |
353 |
1.1e-21 |
PFAM |
|
DISIN
|
419 |
494 |
2.1e-36 |
SMART |
|
ACR
|
495 |
623 |
1.84e-52 |
SMART |
|
EGF
|
631 |
660 |
3.01e0 |
SMART |
|
transmembrane domain
|
667 |
689 |
N/A |
INTRINSIC |
|
low complexity region
|
738 |
753 |
N/A |
INTRINSIC |
|
low complexity region
|
757 |
765 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224039
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (62/62) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are typically membrane-anchored, although a form of this protein may be secreted. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a mature protein product. This protein may bind to integrins and regulate lymphocyte migration by enhancing cell adhesion. [provided by RefSeq, Aug 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
T |
C |
14: 66,297,345 (GRCm39) |
E187G |
probably damaging |
Het |
| Ap2a1 |
G |
A |
7: 44,559,160 (GRCm39) |
T189M |
probably damaging |
Het |
| Apaf1 |
A |
G |
10: 90,859,644 (GRCm39) |
Y845H |
probably benign |
Het |
| Asb14 |
G |
T |
14: 26,619,718 (GRCm39) |
V55F |
probably benign |
Het |
| Brap |
A |
T |
5: 121,800,192 (GRCm39) |
D71V |
probably damaging |
Het |
| Ccdc93 |
T |
G |
1: 121,427,042 (GRCm39) |
F610V |
probably damaging |
Het |
| Cfap46 |
T |
G |
7: 139,231,480 (GRCm39) |
D911A |
|
Het |
| Chn2 |
T |
C |
6: 54,275,137 (GRCm39) |
|
probably null |
Het |
| Cib3 |
A |
G |
8: 72,958,269 (GRCm39) |
F156S |
probably damaging |
Het |
| Csnk2a1-ps3 |
G |
A |
1: 156,352,354 (GRCm39) |
G185D |
possibly damaging |
Het |
| Ctif |
A |
T |
18: 75,738,715 (GRCm39) |
V164D |
probably damaging |
Het |
| Ddx27 |
T |
A |
2: 166,869,879 (GRCm39) |
F405I |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,069,594 (GRCm39) |
T270A |
probably benign |
Het |
| Dst |
T |
A |
1: 34,314,775 (GRCm39) |
S4455T |
probably damaging |
Het |
| Efcab8 |
A |
G |
2: 153,685,110 (GRCm39) |
K47R |
|
Het |
| Efhd2 |
T |
C |
4: 141,601,886 (GRCm39) |
E98G |
probably damaging |
Het |
| Fcmr |
T |
A |
1: 130,802,025 (GRCm39) |
L93Q |
probably damaging |
Het |
| Fhdc1 |
T |
A |
3: 84,351,906 (GRCm39) |
E1106D |
probably benign |
Het |
| Gcnt1 |
C |
T |
19: 17,306,723 (GRCm39) |
G334D |
probably damaging |
Het |
| Hltf |
T |
C |
3: 20,145,647 (GRCm39) |
F488L |
probably benign |
Het |
| Hmgxb4 |
C |
A |
8: 75,727,436 (GRCm39) |
H140N |
probably damaging |
Het |
| Ifi214 |
A |
T |
1: 173,352,402 (GRCm39) |
F342L |
probably damaging |
Het |
| Ip6k1 |
A |
G |
9: 107,909,288 (GRCm39) |
D105G |
possibly damaging |
Het |
| Kank1 |
GCGAACG |
GCG |
19: 25,388,569 (GRCm39) |
|
probably null |
Het |
| Kif18a |
G |
A |
2: 109,137,285 (GRCm39) |
D506N |
probably benign |
Het |
| Klf17 |
T |
A |
4: 117,617,812 (GRCm39) |
M182L |
probably benign |
Het |
| Kmt2d |
A |
G |
15: 98,750,215 (GRCm39) |
F2493L |
unknown |
Het |
| Lefty1 |
A |
G |
1: 180,764,112 (GRCm39) |
E84G |
probably damaging |
Het |
| Lyst |
T |
G |
13: 13,884,117 (GRCm39) |
L2975R |
possibly damaging |
Het |
| Magea5 |
G |
A |
X: 153,837,174 (GRCm39) |
P73S |
possibly damaging |
Het |
| Mctp2 |
T |
C |
7: 71,740,079 (GRCm39) |
|
probably null |
Het |
| Mprip |
C |
T |
11: 59,649,047 (GRCm39) |
T917M |
possibly damaging |
Het |
| Myh8 |
T |
A |
11: 67,194,481 (GRCm39) |
I1564N |
probably benign |
Het |
| Npc1 |
A |
T |
18: 12,328,105 (GRCm39) |
M1068K |
probably benign |
Het |
| Nr2e1 |
A |
G |
10: 42,450,433 (GRCm39) |
C60R |
probably benign |
Het |
| Nrxn3 |
A |
G |
12: 89,780,254 (GRCm39) |
I29V |
probably benign |
Het |
| Ntsr1 |
T |
A |
2: 180,180,610 (GRCm39) |
H305Q |
probably damaging |
Het |
| Or2y1e |
A |
G |
11: 49,218,571 (GRCm39) |
E111G |
probably damaging |
Het |
| Or8g35 |
A |
G |
9: 39,381,612 (GRCm39) |
S137P |
probably benign |
Het |
| Or8h10 |
T |
A |
2: 86,808,538 (GRCm39) |
I201F |
probably damaging |
Het |
| Pate2 |
A |
C |
9: 35,581,197 (GRCm39) |
E22D |
probably benign |
Het |
| Pcdhb22 |
A |
G |
18: 37,652,158 (GRCm39) |
T209A |
probably damaging |
Het |
| Pdss2 |
C |
T |
10: 43,340,628 (GRCm39) |
S352F |
probably benign |
Het |
| Pfn3 |
T |
A |
13: 55,562,900 (GRCm39) |
D27V |
probably damaging |
Het |
| Pigg |
T |
G |
5: 108,461,920 (GRCm39) |
S84A |
probably benign |
Het |
| Prm3 |
CTCTTCTTCTTCTTC |
CTCTTCTTCTTC |
16: 10,608,565 (GRCm39) |
|
probably benign |
Het |
| Prss22 |
C |
T |
17: 24,213,592 (GRCm39) |
G233E |
probably damaging |
Het |
| Rad51b |
T |
C |
12: 79,850,044 (GRCm39) |
|
probably null |
Het |
| Scn10a |
A |
G |
9: 119,438,970 (GRCm39) |
V1632A |
possibly damaging |
Het |
| Serpinb3d |
T |
G |
1: 107,007,512 (GRCm39) |
D158A |
probably damaging |
Het |
| Sh3yl1 |
T |
C |
12: 31,008,868 (GRCm39) |
L266P |
probably damaging |
Het |
| Sidt2 |
A |
T |
9: 45,852,873 (GRCm39) |
|
probably null |
Het |
| Stox1 |
C |
T |
10: 62,501,778 (GRCm39) |
V261M |
probably benign |
Het |
| Taf7l2 |
T |
A |
10: 115,949,158 (GRCm39) |
K123* |
probably null |
Het |
| Tll1 |
A |
G |
8: 64,504,483 (GRCm39) |
Y638H |
probably damaging |
Het |
| Tst |
A |
T |
15: 78,289,816 (GRCm39) |
M73K |
possibly damaging |
Het |
| Tuba4a |
C |
T |
1: 75,193,003 (GRCm39) |
V232M |
probably benign |
Het |
| Unk |
T |
A |
11: 115,943,908 (GRCm39) |
V343D |
probably benign |
Het |
| Usf3 |
T |
C |
16: 44,039,426 (GRCm39) |
V1302A |
probably benign |
Het |
| Usp32 |
A |
T |
11: 84,885,234 (GRCm39) |
L1271H |
probably damaging |
Het |
| Vwa5b2 |
C |
T |
16: 20,413,361 (GRCm39) |
P192L |
probably benign |
Het |
| Zfp995 |
A |
G |
17: 22,100,984 (GRCm39) |
Y38H |
probably damaging |
Het |
|
| Other mutations in Adam28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Adam28
|
APN |
14 |
68,859,569 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL00654:Adam28
|
APN |
14 |
68,886,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01021:Adam28
|
APN |
14 |
68,879,563 (GRCm39) |
missense |
probably benign |
|
|
IGL01099:Adam28
|
APN |
14 |
68,874,778 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01349:Adam28
|
APN |
14 |
68,848,455 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01744:Adam28
|
APN |
14 |
68,844,956 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01805:Adam28
|
APN |
14 |
68,879,540 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02007:Adam28
|
APN |
14 |
68,870,668 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02828:Adam28
|
APN |
14 |
68,884,319 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL03180:Adam28
|
APN |
14 |
68,874,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03355:Adam28
|
APN |
14 |
68,872,252 (GRCm39) |
splice site |
probably benign |
|
|
IGL02980:Adam28
|
UTSW |
14 |
68,857,255 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4453001:Adam28
|
UTSW |
14 |
68,872,325 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0184:Adam28
|
UTSW |
14 |
68,874,822 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0321:Adam28
|
UTSW |
14 |
68,855,200 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0329:Adam28
|
UTSW |
14 |
68,855,188 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0494:Adam28
|
UTSW |
14 |
68,868,241 (GRCm39) |
splice site |
probably benign |
|
|
R0605:Adam28
|
UTSW |
14 |
68,844,049 (GRCm39) |
unclassified |
probably benign |
|
|
R0732:Adam28
|
UTSW |
14 |
68,874,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0959:Adam28
|
UTSW |
14 |
68,845,387 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1319:Adam28
|
UTSW |
14 |
68,846,578 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1745:Adam28
|
UTSW |
14 |
68,870,620 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1836:Adam28
|
UTSW |
14 |
68,886,870 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1838:Adam28
|
UTSW |
14 |
68,876,659 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1839:Adam28
|
UTSW |
14 |
68,876,659 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1850:Adam28
|
UTSW |
14 |
68,876,644 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1912:Adam28
|
UTSW |
14 |
68,881,780 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2830:Adam28
|
UTSW |
14 |
68,864,363 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2889:Adam28
|
UTSW |
14 |
68,872,294 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3977:Adam28
|
UTSW |
14 |
68,848,443 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3978:Adam28
|
UTSW |
14 |
68,848,443 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3979:Adam28
|
UTSW |
14 |
68,848,443 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4282:Adam28
|
UTSW |
14 |
68,885,155 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4416:Adam28
|
UTSW |
14 |
68,859,531 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4690:Adam28
|
UTSW |
14 |
68,879,497 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4724:Adam28
|
UTSW |
14 |
68,864,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4768:Adam28
|
UTSW |
14 |
68,872,264 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4883:Adam28
|
UTSW |
14 |
68,875,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5054:Adam28
|
UTSW |
14 |
68,855,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5710:Adam28
|
UTSW |
14 |
68,847,357 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5835:Adam28
|
UTSW |
14 |
68,893,130 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6002:Adam28
|
UTSW |
14 |
68,879,511 (GRCm39) |
missense |
probably benign |
|
|
R6054:Adam28
|
UTSW |
14 |
68,879,601 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6349:Adam28
|
UTSW |
14 |
68,870,621 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6449:Adam28
|
UTSW |
14 |
68,868,116 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6455:Adam28
|
UTSW |
14 |
68,870,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6831:Adam28
|
UTSW |
14 |
68,855,576 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6833:Adam28
|
UTSW |
14 |
68,855,576 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7212:Adam28
|
UTSW |
14 |
68,874,846 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7411:Adam28
|
UTSW |
14 |
68,864,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7422:Adam28
|
UTSW |
14 |
68,864,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7516:Adam28
|
UTSW |
14 |
68,868,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7649:Adam28
|
UTSW |
14 |
68,872,282 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8469:Adam28
|
UTSW |
14 |
68,844,029 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8520:Adam28
|
UTSW |
14 |
68,879,532 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9026:Adam28
|
UTSW |
14 |
68,846,593 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9163:Adam28
|
UTSW |
14 |
68,866,531 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9264:Adam28
|
UTSW |
14 |
68,844,914 (GRCm39) |
missense |
probably benign |
|
|
R9304:Adam28
|
UTSW |
14 |
68,874,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9357:Adam28
|
UTSW |
14 |
68,879,479 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9441:Adam28
|
UTSW |
14 |
68,874,943 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Adam28
|
UTSW |
14 |
68,864,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTAATTTAGGGGATAAGTTCGGAG -3'
(R):5'- GGTCCAGCTTTGCTACTAGG -3'
Sequencing Primer
(F):5'- TGTAGAGGGATATTCTCACATTTAGC -3'
(R):5'- GTCCAGCTTTGCTACTAGGATCTTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation