Incidental Mutation 'R1873:Adam34'
| ID |
210942 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam34
|
| Ensembl Gene |
ENSMUSG00000079058 |
| Gene Name |
a disintegrin and metallopeptidase domain 34 |
| Synonyms |
testase 4 |
| MMRRC Submission |
039895-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R1873 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
44103346-44118597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 44104843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 267
(N267K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110411]
[ENSMUST00000212185]
|
| AlphaFold |
A2RSG8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110411
AA Change: N267K
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000106041
Gene: ENSMUSG00000079058
AA Change: N267K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
40 |
159 |
5.9e-20 |
PFAM |
|
Pfam:Reprolysin_5
|
205 |
377 |
1.6e-16 |
PFAM |
|
Pfam:Reprolysin_4
|
205 |
393 |
3e-12 |
PFAM |
|
Pfam:Reprolysin
|
207 |
397 |
9.4e-49 |
PFAM |
|
Pfam:Reprolysin_2
|
224 |
389 |
1e-14 |
PFAM |
|
Pfam:Reprolysin_3
|
231 |
352 |
2.7e-14 |
PFAM |
|
DISIN
|
416 |
491 |
3.38e-40 |
SMART |
|
ACR
|
492 |
628 |
9.18e-62 |
SMART |
|
transmembrane domain
|
685 |
707 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212185
AA Change: N267K
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.4%
- 20x: 92.9%
|
| Validation Efficiency |
98% (82/84) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,870,781 (GRCm39) |
I124L |
probably benign |
Het |
| Abi3bp |
A |
G |
16: 56,394,862 (GRCm39) |
Y190C |
probably damaging |
Het |
| Anxa5 |
T |
C |
3: 36,503,551 (GRCm39) |
D301G |
probably damaging |
Het |
| Atf7ip |
G |
T |
6: 136,536,886 (GRCm39) |
D40Y |
probably damaging |
Het |
| Cacna2d2 |
T |
G |
9: 107,391,071 (GRCm39) |
M400R |
probably damaging |
Het |
| Cd96 |
C |
A |
16: 45,938,335 (GRCm39) |
L43F |
probably damaging |
Het |
| Cep120 |
T |
C |
18: 53,871,560 (GRCm39) |
E104G |
probably damaging |
Het |
| Cfap221 |
T |
C |
1: 119,881,389 (GRCm39) |
I358V |
probably benign |
Het |
| Cfhr4 |
C |
T |
1: 139,702,398 (GRCm39) |
E29K |
probably damaging |
Het |
| Chil4 |
C |
T |
3: 106,113,414 (GRCm39) |
E168K |
probably benign |
Het |
| Clca3a1 |
A |
G |
3: 144,452,590 (GRCm39) |
V631A |
probably damaging |
Het |
| Cluh |
C |
T |
11: 74,552,902 (GRCm39) |
A649V |
possibly damaging |
Het |
| Commd9 |
A |
G |
2: 101,727,502 (GRCm39) |
T99A |
probably benign |
Het |
| Csgalnact1 |
T |
C |
8: 68,854,036 (GRCm39) |
N255S |
probably benign |
Het |
| Cyth3 |
T |
A |
5: 143,683,516 (GRCm39) |
H138Q |
possibly damaging |
Het |
| Dnah7a |
A |
T |
1: 53,495,691 (GRCm39) |
|
probably benign |
Het |
| Fbxl18 |
G |
A |
5: 142,871,978 (GRCm39) |
A419V |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,652,303 (GRCm39) |
V1135A |
probably benign |
Het |
| Glcci1 |
C |
A |
6: 8,537,837 (GRCm39) |
H152N |
probably benign |
Het |
| Gm10477 |
T |
A |
X: 55,570,127 (GRCm39) |
F9Y |
probably damaging |
Het |
| Gnrhr |
A |
G |
5: 86,330,060 (GRCm39) |
L320P |
probably damaging |
Het |
| Gorasp1 |
A |
T |
9: 119,759,306 (GRCm39) |
S138T |
probably benign |
Het |
| Hars1 |
C |
A |
18: 36,900,294 (GRCm39) |
Q469H |
probably damaging |
Het |
| Homer2 |
T |
C |
7: 81,286,111 (GRCm39) |
K34E |
probably damaging |
Het |
| Hscb |
T |
C |
5: 110,978,823 (GRCm39) |
I198V |
probably benign |
Het |
| Kat6b |
T |
C |
14: 21,567,057 (GRCm39) |
S39P |
probably damaging |
Het |
| Kcnk12 |
G |
T |
17: 88,053,499 (GRCm39) |
Q388K |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,874,104 (GRCm39) |
I548T |
probably benign |
Het |
| Mark2 |
A |
G |
19: 7,261,880 (GRCm39) |
Y351H |
probably damaging |
Het |
| Masp2 |
A |
T |
4: 148,698,952 (GRCm39) |
I678F |
probably damaging |
Het |
| Mc4r |
A |
T |
18: 66,992,531 (GRCm39) |
I194N |
probably damaging |
Het |
| Ms4a6d |
A |
G |
19: 11,579,223 (GRCm39) |
S85P |
probably damaging |
Het |
| Myh4 |
T |
A |
11: 67,145,569 (GRCm39) |
Y1351N |
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,322,789 (GRCm39) |
D73G |
probably damaging |
Het |
| Mzt1 |
C |
T |
14: 99,278,097 (GRCm39) |
|
probably null |
Het |
| Nalcn |
G |
A |
14: 123,521,013 (GRCm39) |
H1631Y |
probably benign |
Het |
| Ncf2 |
A |
G |
1: 152,701,661 (GRCm39) |
N213S |
probably benign |
Het |
| Nf1 |
C |
A |
11: 79,437,987 (GRCm39) |
T99K |
probably damaging |
Het |
| Nsf |
T |
C |
11: 103,749,843 (GRCm39) |
S547G |
probably damaging |
Het |
| Ntrk3 |
T |
A |
7: 78,112,587 (GRCm39) |
I190F |
probably benign |
Het |
| Obsl1 |
T |
C |
1: 75,474,877 (GRCm39) |
Y841C |
probably damaging |
Het |
| Ogdh |
A |
T |
11: 6,290,438 (GRCm39) |
|
probably benign |
Het |
| Or2ag12 |
T |
A |
7: 106,277,691 (GRCm39) |
M1L |
probably damaging |
Het |
| Or5b12 |
C |
T |
19: 12,896,852 (GRCm39) |
V274M |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,918,767 (GRCm39) |
V948I |
probably damaging |
Het |
| Plekhm1 |
T |
C |
11: 103,264,824 (GRCm39) |
D880G |
probably benign |
Het |
| Pnliprp2 |
G |
T |
19: 58,751,821 (GRCm39) |
V189L |
probably benign |
Het |
| Polg |
A |
G |
7: 79,106,241 (GRCm39) |
L678S |
probably benign |
Het |
| Ptprm |
C |
T |
17: 66,995,350 (GRCm39) |
V1293I |
probably damaging |
Het |
| Pwwp3a |
T |
A |
10: 80,068,442 (GRCm39) |
D195E |
possibly damaging |
Het |
| Rhou |
A |
T |
8: 124,387,990 (GRCm39) |
R241W |
probably damaging |
Het |
| Rtn4 |
A |
T |
11: 29,686,437 (GRCm39) |
N264I |
probably damaging |
Het |
| Sez6l |
T |
C |
5: 112,621,276 (GRCm39) |
|
probably benign |
Het |
| Sost |
T |
C |
11: 101,855,069 (GRCm39) |
E80G |
probably damaging |
Het |
| Spag16 |
C |
T |
1: 69,935,744 (GRCm39) |
|
probably benign |
Het |
| Speer4f2 |
A |
T |
5: 17,579,447 (GRCm39) |
N82I |
probably damaging |
Het |
| Spef2 |
C |
T |
15: 9,584,194 (GRCm39) |
E1624K |
probably damaging |
Het |
| Taf1b |
T |
A |
12: 24,606,668 (GRCm39) |
L496Q |
possibly damaging |
Het |
| Tarbp1 |
A |
G |
8: 127,173,786 (GRCm39) |
I976T |
probably damaging |
Het |
| Tex14 |
T |
A |
11: 87,390,431 (GRCm39) |
V376D |
probably damaging |
Het |
| Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
| Tm9sf1 |
T |
C |
14: 55,873,680 (GRCm39) |
D606G |
probably damaging |
Het |
| Tmc2 |
A |
C |
2: 130,090,676 (GRCm39) |
N674T |
possibly damaging |
Het |
| Top3a |
C |
A |
11: 60,638,810 (GRCm39) |
E562* |
probably null |
Het |
| Umodl1 |
A |
T |
17: 31,201,238 (GRCm39) |
D389V |
probably damaging |
Het |
| Uso1 |
T |
C |
5: 92,340,718 (GRCm39) |
|
probably benign |
Het |
| Vmn1r205 |
A |
G |
13: 22,776,223 (GRCm39) |
V293A |
possibly damaging |
Het |
| Vmn2r107 |
A |
G |
17: 20,565,840 (GRCm39) |
T52A |
probably benign |
Het |
| Vmn2r4 |
C |
T |
3: 64,298,479 (GRCm39) |
V461I |
possibly damaging |
Het |
| Vmn2r99 |
A |
T |
17: 19,582,415 (GRCm39) |
I7F |
probably benign |
Het |
| Vps11 |
A |
G |
9: 44,271,233 (GRCm39) |
F80S |
probably damaging |
Het |
| Wdr43 |
A |
G |
17: 71,940,647 (GRCm39) |
S258G |
probably benign |
Het |
| Zbtb24 |
A |
G |
10: 41,327,123 (GRCm39) |
D3G |
probably benign |
Het |
| Zc3hav1 |
C |
T |
6: 38,309,692 (GRCm39) |
V377I |
possibly damaging |
Het |
| Zfp668 |
T |
C |
7: 127,465,654 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Adam34 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00545:Adam34
|
APN |
8 |
44,105,227 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01296:Adam34
|
APN |
8 |
44,104,178 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01369:Adam34
|
APN |
8 |
44,104,094 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01933:Adam34
|
APN |
8 |
44,104,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01938:Adam34
|
APN |
8 |
44,104,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02112:Adam34
|
APN |
8 |
44,104,175 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02182:Adam34
|
APN |
8 |
44,104,790 (GRCm39) |
missense |
probably benign |
|
|
IGL02306:Adam34
|
APN |
8 |
44,103,522 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02661:Adam34
|
APN |
8 |
44,104,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02888:Adam34
|
APN |
8 |
44,104,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02979:Adam34
|
APN |
8 |
44,104,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03073:Adam34
|
APN |
8 |
44,103,940 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB010:Adam34
|
UTSW |
8 |
44,103,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB020:Adam34
|
UTSW |
8 |
44,103,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4453001:Adam34
|
UTSW |
8 |
44,104,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0060:Adam34
|
UTSW |
8 |
44,128,920 (GRCm39) |
intron |
probably benign |
|
|
R0317:Adam34
|
UTSW |
8 |
44,105,288 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0322:Adam34
|
UTSW |
8 |
44,104,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0427:Adam34
|
UTSW |
8 |
44,105,493 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0593:Adam34
|
UTSW |
8 |
44,104,724 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0837:Adam34
|
UTSW |
8 |
44,104,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0927:Adam34
|
UTSW |
8 |
44,104,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1634:Adam34
|
UTSW |
8 |
44,105,127 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1653:Adam34
|
UTSW |
8 |
44,103,682 (GRCm39) |
nonsense |
probably null |
|
|
R1826:Adam34
|
UTSW |
8 |
44,104,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1943:Adam34
|
UTSW |
8 |
44,104,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1943:Adam34
|
UTSW |
8 |
44,103,864 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2147:Adam34
|
UTSW |
8 |
44,105,538 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2150:Adam34
|
UTSW |
8 |
44,105,538 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2206:Adam34
|
UTSW |
8 |
44,105,274 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2207:Adam34
|
UTSW |
8 |
44,105,274 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2268:Adam34
|
UTSW |
8 |
44,103,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2349:Adam34
|
UTSW |
8 |
44,105,415 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3983:Adam34
|
UTSW |
8 |
44,103,806 (GRCm39) |
missense |
probably benign |
|
|
R4158:Adam34
|
UTSW |
8 |
44,103,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4179:Adam34
|
UTSW |
8 |
44,104,128 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5219:Adam34
|
UTSW |
8 |
44,104,461 (GRCm39) |
missense |
probably benign |
|
|
R5398:Adam34
|
UTSW |
8 |
44,104,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5611:Adam34
|
UTSW |
8 |
44,104,749 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5928:Adam34
|
UTSW |
8 |
44,105,067 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6115:Adam34
|
UTSW |
8 |
44,105,098 (GRCm39) |
missense |
probably benign |
|
|
R6319:Adam34
|
UTSW |
8 |
44,104,952 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6384:Adam34
|
UTSW |
8 |
44,103,836 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6706:Adam34
|
UTSW |
8 |
44,104,479 (GRCm39) |
nonsense |
probably null |
|
|
R6992:Adam34
|
UTSW |
8 |
44,105,642 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R7032:Adam34
|
UTSW |
8 |
44,105,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7151:Adam34
|
UTSW |
8 |
44,104,499 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7187:Adam34
|
UTSW |
8 |
44,105,565 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7223:Adam34
|
UTSW |
8 |
44,105,041 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7487:Adam34
|
UTSW |
8 |
44,104,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7726:Adam34
|
UTSW |
8 |
44,104,208 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7789:Adam34
|
UTSW |
8 |
44,105,488 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7810:Adam34
|
UTSW |
8 |
44,105,045 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7933:Adam34
|
UTSW |
8 |
44,103,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8192:Adam34
|
UTSW |
8 |
44,103,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8231:Adam34
|
UTSW |
8 |
44,104,659 (GRCm39) |
missense |
probably benign |
|
|
R8238:Adam34
|
UTSW |
8 |
44,103,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8259:Adam34
|
UTSW |
8 |
44,104,646 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8339:Adam34
|
UTSW |
8 |
44,103,640 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8381:Adam34
|
UTSW |
8 |
44,104,847 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8670:Adam34
|
UTSW |
8 |
44,105,126 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8693:Adam34
|
UTSW |
8 |
44,104,641 (GRCm39) |
missense |
probably benign |
|
|
R8932:Adam34
|
UTSW |
8 |
44,105,192 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8936:Adam34
|
UTSW |
8 |
44,104,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8981:Adam34
|
UTSW |
8 |
44,103,840 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9040:Adam34
|
UTSW |
8 |
44,103,363 (GRCm39) |
unclassified |
probably benign |
|
|
R9105:Adam34
|
UTSW |
8 |
44,103,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9305:Adam34
|
UTSW |
8 |
44,104,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9321:Adam34
|
UTSW |
8 |
44,105,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9641:Adam34
|
UTSW |
8 |
44,104,076 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9644:Adam34
|
UTSW |
8 |
44,104,766 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCTCATGTGCTATGATGAATGC -3'
(R):5'- ATTGGTGGACGCATCACAGG -3'
Sequencing Primer
(F):5'- GTGCTATGATGAATGCCATATCTG -3'
(R):5'- GGACGCATCACAGGTTTATTG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation