Incidental Mutation 'R5955:Adam26a'
| ID |
471123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam26a
|
| Ensembl Gene |
ENSMUSG00000048516 |
| Gene Name |
ADAM metallopeptidase domain 26A |
| Synonyms |
Dtgn4, Adam26 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5955 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
44021315-44029744 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44022889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 200
(F200L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049577]
|
| AlphaFold |
Q9R158 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049577
AA Change: F200L
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000058256
Gene: ENSMUSG00000048516
AA Change: F200L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
29 |
147 |
2.1e-18 |
PFAM |
|
Pfam:Reprolysin_5
|
193 |
364 |
4.8e-15 |
PFAM |
|
Pfam:Reprolysin_4
|
194 |
380 |
2.2e-9 |
PFAM |
|
Pfam:Reprolysin
|
195 |
385 |
2.7e-48 |
PFAM |
|
Pfam:Reprolysin_2
|
215 |
377 |
2.4e-16 |
PFAM |
|
Pfam:Reprolysin_3
|
219 |
340 |
1.2e-15 |
PFAM |
|
DISIN
|
401 |
476 |
2.98e-41 |
SMART |
|
ACR
|
477 |
613 |
2.06e-64 |
SMART |
|
transmembrane domain
|
671 |
693 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. This gene is expressed in a regulated fashion during the late stages of spermatogenesis. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional metalloprotease enzyme. This gene is located adjacent to two other ADAM genes on chromosome 8. [provided by RefSeq, May 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
T |
19: 43,801,629 (GRCm39) |
D632V |
probably damaging |
Het |
| Acbd6 |
C |
T |
1: 155,463,205 (GRCm39) |
A135V |
probably benign |
Het |
| Ago3 |
A |
T |
4: 126,248,843 (GRCm39) |
N569K |
probably damaging |
Het |
| Ak9 |
A |
T |
10: 41,234,560 (GRCm39) |
L640F |
probably damaging |
Het |
| Ampd2 |
A |
G |
3: 107,987,088 (GRCm39) |
V178A |
probably damaging |
Het |
| Anapc4 |
C |
G |
5: 53,023,288 (GRCm39) |
H710D |
probably benign |
Het |
| Atad2 |
T |
C |
15: 57,969,055 (GRCm39) |
I495V |
probably benign |
Het |
| Bhmt2 |
T |
C |
13: 93,799,705 (GRCm39) |
T244A |
probably benign |
Het |
| Capg |
T |
C |
6: 72,532,483 (GRCm39) |
V16A |
probably benign |
Het |
| Capn13 |
A |
G |
17: 73,637,997 (GRCm39) |
F469L |
possibly damaging |
Het |
| Ccdc149 |
C |
T |
5: 52,533,877 (GRCm39) |
V430I |
probably benign |
Het |
| Cma1 |
A |
C |
14: 56,181,226 (GRCm39) |
Y47D |
probably benign |
Het |
| Col6a3 |
A |
T |
1: 90,739,163 (GRCm39) |
L355Q |
probably damaging |
Het |
| Cripto |
C |
A |
9: 110,773,281 (GRCm39) |
R18L |
unknown |
Het |
| Crocc |
G |
T |
4: 140,745,229 (GRCm39) |
T1796K |
possibly damaging |
Het |
| Cyp2c50 |
A |
T |
19: 40,079,387 (GRCm39) |
|
probably null |
Het |
| Dsp |
T |
C |
13: 38,378,934 (GRCm39) |
I1294T |
possibly damaging |
Het |
| Erbin |
A |
T |
13: 103,966,700 (GRCm39) |
F1250Y |
probably benign |
Het |
| Fbn1 |
A |
C |
2: 125,200,802 (GRCm39) |
C1298W |
probably damaging |
Het |
| Fbn2 |
A |
C |
18: 58,177,328 (GRCm39) |
F1990V |
probably damaging |
Het |
| Fez2 |
A |
T |
17: 78,694,472 (GRCm39) |
V306D |
probably damaging |
Het |
| Gigyf1 |
G |
A |
5: 137,521,769 (GRCm39) |
|
probably null |
Het |
| Gjb4 |
A |
T |
4: 127,245,745 (GRCm39) |
Y65* |
probably null |
Het |
| Gm26661 |
G |
A |
14: 7,791,776 (GRCm38) |
A64T |
unknown |
Het |
| Igkv1-135 |
T |
C |
6: 67,587,263 (GRCm39) |
S45P |
possibly damaging |
Het |
| Il27 |
T |
C |
7: 126,194,070 (GRCm39) |
T5A |
probably benign |
Het |
| Il27ra |
T |
C |
8: 84,767,451 (GRCm39) |
D124G |
probably benign |
Het |
| Itgad |
A |
G |
7: 127,788,653 (GRCm39) |
H424R |
probably benign |
Het |
| Itgal |
T |
C |
7: 126,904,161 (GRCm39) |
V258A |
possibly damaging |
Het |
| Kpna4 |
A |
G |
3: 68,997,134 (GRCm39) |
V351A |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,839,267 (GRCm39) |
Q747R |
probably damaging |
Het |
| Map4k5 |
A |
G |
12: 69,891,164 (GRCm39) |
F168L |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,015,195 (GRCm39) |
Y843H |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 121,010,711 (GRCm39) |
M424V |
probably damaging |
Het |
| Mtrfr |
G |
T |
5: 124,478,837 (GRCm39) |
E153* |
probably null |
Het |
| Myb |
A |
G |
10: 21,028,398 (GRCm39) |
I155T |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,588,404 (GRCm39) |
V2445E |
probably benign |
Het |
| Nlrp1b |
A |
T |
11: 71,108,691 (GRCm39) |
I270N |
probably damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,342,895 (GRCm39) |
M250K |
probably benign |
Het |
| Or13c7 |
T |
A |
4: 43,854,898 (GRCm39) |
N196K |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or52w1 |
C |
T |
7: 105,017,776 (GRCm39) |
A72V |
probably damaging |
Het |
| P4ha1 |
A |
G |
10: 59,178,618 (GRCm39) |
S96G |
probably benign |
Het |
| Pcnt |
G |
T |
10: 76,247,456 (GRCm39) |
N1025K |
possibly damaging |
Het |
| Pgap4 |
T |
C |
4: 49,586,613 (GRCm39) |
E185G |
probably damaging |
Het |
| Phactr4 |
A |
G |
4: 132,114,220 (GRCm39) |
F58S |
probably damaging |
Het |
| Phlpp1 |
T |
A |
1: 106,291,960 (GRCm39) |
|
probably null |
Het |
| Rab40c |
A |
C |
17: 26,103,631 (GRCm39) |
V144G |
probably damaging |
Het |
| Rnasel |
A |
G |
1: 153,630,146 (GRCm39) |
I221V |
probably benign |
Het |
| Rps6kb1 |
T |
C |
11: 86,404,431 (GRCm39) |
K241E |
probably damaging |
Het |
| Rrbp1 |
C |
G |
2: 143,791,597 (GRCm39) |
E1370Q |
probably benign |
Het |
| Rttn |
T |
C |
18: 89,139,133 (GRCm39) |
Y2111H |
probably damaging |
Het |
| Samd8 |
A |
G |
14: 21,843,152 (GRCm39) |
H364R |
probably damaging |
Het |
| Scnm1 |
T |
C |
3: 95,037,596 (GRCm39) |
I157V |
probably benign |
Het |
| Setdb1 |
A |
G |
3: 95,246,153 (GRCm39) |
Y590H |
probably damaging |
Het |
| Shkbp1 |
T |
C |
7: 27,041,949 (GRCm39) |
N635S |
probably benign |
Het |
| Trpm6 |
A |
G |
19: 18,869,383 (GRCm39) |
D1990G |
possibly damaging |
Het |
| Usp48 |
A |
G |
4: 137,343,129 (GRCm39) |
N426S |
probably benign |
Het |
| Vmn2r16 |
G |
A |
5: 109,511,613 (GRCm39) |
V607M |
possibly damaging |
Het |
| Xdh |
A |
T |
17: 74,205,315 (GRCm39) |
V1050D |
probably damaging |
Het |
| Zfp110 |
C |
T |
7: 12,582,672 (GRCm39) |
T440I |
possibly damaging |
Het |
|
| Other mutations in Adam26a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00499:Adam26a
|
APN |
8 |
44,021,896 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL00519:Adam26a
|
APN |
8 |
44,022,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00658:Adam26a
|
APN |
8 |
44,021,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01514:Adam26a
|
APN |
8 |
44,021,485 (GRCm39) |
missense |
probably benign |
|
|
IGL01988:Adam26a
|
APN |
8 |
44,022,207 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02030:Adam26a
|
APN |
8 |
44,021,894 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02081:Adam26a
|
APN |
8 |
44,023,233 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02444:Adam26a
|
APN |
8 |
44,022,710 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02734:Adam26a
|
APN |
8 |
44,022,812 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL03243:Adam26a
|
APN |
8 |
44,021,733 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03350:Adam26a
|
APN |
8 |
44,022,589 (GRCm39) |
nonsense |
probably null |
|
|
R0206:Adam26a
|
UTSW |
8 |
44,023,455 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0206:Adam26a
|
UTSW |
8 |
44,023,455 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0324:Adam26a
|
UTSW |
8 |
44,021,490 (GRCm39) |
missense |
probably benign |
|
|
R0830:Adam26a
|
UTSW |
8 |
44,021,439 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0960:Adam26a
|
UTSW |
8 |
44,021,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1259:Adam26a
|
UTSW |
8 |
44,021,750 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1259:Adam26a
|
UTSW |
8 |
44,021,684 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1403:Adam26a
|
UTSW |
8 |
44,022,229 (GRCm39) |
nonsense |
probably null |
|
|
R1403:Adam26a
|
UTSW |
8 |
44,022,229 (GRCm39) |
nonsense |
probably null |
|
|
R1719:Adam26a
|
UTSW |
8 |
44,023,073 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1750:Adam26a
|
UTSW |
8 |
44,023,226 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1860:Adam26a
|
UTSW |
8 |
44,022,578 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1861:Adam26a
|
UTSW |
8 |
44,022,578 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1875:Adam26a
|
UTSW |
8 |
44,022,888 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3959:Adam26a
|
UTSW |
8 |
44,022,908 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4355:Adam26a
|
UTSW |
8 |
44,023,222 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4604:Adam26a
|
UTSW |
8 |
44,023,088 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4612:Adam26a
|
UTSW |
8 |
44,021,830 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4909:Adam26a
|
UTSW |
8 |
44,023,475 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4937:Adam26a
|
UTSW |
8 |
44,021,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5112:Adam26a
|
UTSW |
8 |
44,021,893 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5276:Adam26a
|
UTSW |
8 |
44,023,457 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5406:Adam26a
|
UTSW |
8 |
44,022,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5501:Adam26a
|
UTSW |
8 |
44,022,941 (GRCm39) |
nonsense |
probably null |
|
|
R6262:Adam26a
|
UTSW |
8 |
44,022,125 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6847:Adam26a
|
UTSW |
8 |
44,021,465 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6957:Adam26a
|
UTSW |
8 |
44,021,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7053:Adam26a
|
UTSW |
8 |
44,021,836 (GRCm39) |
nonsense |
probably null |
|
|
R7287:Adam26a
|
UTSW |
8 |
44,023,380 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7393:Adam26a
|
UTSW |
8 |
44,022,725 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7477:Adam26a
|
UTSW |
8 |
44,022,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7552:Adam26a
|
UTSW |
8 |
44,023,007 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7670:Adam26a
|
UTSW |
8 |
44,023,190 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7918:Adam26a
|
UTSW |
8 |
44,022,566 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8193:Adam26a
|
UTSW |
8 |
44,022,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8262:Adam26a
|
UTSW |
8 |
44,022,178 (GRCm39) |
nonsense |
probably null |
|
|
R8987:Adam26a
|
UTSW |
8 |
44,022,358 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9104:Adam26a
|
UTSW |
8 |
44,023,108 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9350:Adam26a
|
UTSW |
8 |
44,022,669 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9487:Adam26a
|
UTSW |
8 |
44,022,456 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9550:Adam26a
|
UTSW |
8 |
44,022,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9762:Adam26a
|
UTSW |
8 |
44,021,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Adam26a
|
UTSW |
8 |
44,022,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCTTCCAAGTACAGAAATCACC -3'
(R):5'- ACGTCAACATTTGAACATCTGG -3'
Sequencing Primer
(F):5'- TTCCAAGTACAGAAATCACCAAGGAC -3'
(R):5'- CATCTGGTTTACAAAATGGACAGTGG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation