Incidental Mutation 'R1943:Adam34'
ID |
216380 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam34
|
Ensembl Gene |
ENSMUSG00000079058 |
Gene Name |
a disintegrin and metallopeptidase domain 34 |
Synonyms |
testase 4 |
MMRRC Submission |
039961-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R1943 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
44103346-44118597 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 44103864 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 594
(T594S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148332
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110411]
[ENSMUST00000212185]
|
AlphaFold |
A2RSG8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110411
AA Change: T594S
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000106041 Gene: ENSMUSG00000079058 AA Change: T594S
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 |
possibly damaging
Transcript: ENSMUST00000212185
AA Change: T594S
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,645,506 (GRCm39) |
N1017S |
possibly damaging |
Het |
Abca8a |
T |
C |
11: 109,960,689 (GRCm39) |
I610V |
probably benign |
Het |
Acp5 |
C |
T |
9: 22,040,900 (GRCm39) |
V108M |
probably damaging |
Het |
Adam23 |
T |
C |
1: 63,516,916 (GRCm39) |
|
probably null |
Het |
Arsa |
G |
A |
15: 89,357,742 (GRCm39) |
T407I |
probably damaging |
Het |
Bicc1 |
A |
G |
10: 70,995,353 (GRCm39) |
S32P |
probably damaging |
Het |
Cacna1i |
T |
A |
15: 80,279,245 (GRCm39) |
D1995E |
probably benign |
Het |
Cemip2 |
G |
A |
19: 21,825,404 (GRCm39) |
|
probably null |
Het |
Chst15 |
A |
T |
7: 131,864,579 (GRCm39) |
|
probably null |
Het |
Cntnap4 |
T |
A |
8: 113,542,128 (GRCm39) |
F754I |
probably benign |
Het |
Cpz |
C |
T |
5: 35,669,772 (GRCm39) |
E302K |
probably damaging |
Het |
Daw1 |
A |
T |
1: 83,186,987 (GRCm39) |
I371F |
possibly damaging |
Het |
Dennd1b |
C |
A |
1: 139,096,690 (GRCm39) |
|
probably benign |
Het |
Dhtkd1 |
T |
G |
2: 5,937,293 (GRCm39) |
Q73P |
probably benign |
Het |
Dmgdh |
T |
C |
13: 93,847,878 (GRCm39) |
I525T |
probably benign |
Het |
Dst |
C |
A |
1: 34,267,450 (GRCm39) |
T4964K |
possibly damaging |
Het |
Ercc3 |
A |
G |
18: 32,379,663 (GRCm39) |
Y290C |
probably damaging |
Het |
Fh1 |
C |
T |
1: 175,437,344 (GRCm39) |
V252I |
probably benign |
Het |
Gm13199 |
C |
T |
2: 5,867,517 (GRCm39) |
|
probably benign |
Het |
Il1rn |
T |
C |
2: 24,238,611 (GRCm39) |
S82P |
possibly damaging |
Het |
Lama4 |
T |
C |
10: 38,973,134 (GRCm39) |
V1567A |
possibly damaging |
Het |
Lamtor4 |
A |
G |
5: 138,254,054 (GRCm39) |
|
probably null |
Het |
Llgl1 |
A |
G |
11: 60,596,842 (GRCm39) |
N148D |
probably benign |
Het |
Lmo7 |
G |
T |
14: 102,139,738 (GRCm39) |
G774V |
probably damaging |
Het |
Luzp2 |
A |
T |
7: 54,914,050 (GRCm39) |
K293M |
possibly damaging |
Het |
Mknk1 |
T |
C |
4: 115,720,223 (GRCm39) |
V83A |
probably damaging |
Het |
Mug2 |
T |
C |
6: 122,056,598 (GRCm39) |
V1181A |
probably benign |
Het |
Myo16 |
G |
A |
8: 10,644,905 (GRCm39) |
D1746N |
possibly damaging |
Het |
Or1ad8 |
A |
G |
11: 50,898,502 (GRCm39) |
I234M |
probably benign |
Het |
Or2aj4 |
A |
T |
16: 19,385,187 (GRCm39) |
W149R |
probably benign |
Het |
Osbpl3 |
A |
G |
6: 50,297,054 (GRCm39) |
I548T |
probably benign |
Het |
Parp14 |
A |
G |
16: 35,656,499 (GRCm39) |
Y1676H |
probably damaging |
Het |
Phtf1 |
A |
T |
3: 103,901,198 (GRCm39) |
K416* |
probably null |
Het |
Pmp2 |
T |
C |
3: 10,247,570 (GRCm39) |
T40A |
probably benign |
Het |
Ptpra |
T |
C |
2: 130,386,024 (GRCm39) |
M541T |
probably damaging |
Het |
Rapgef6 |
A |
G |
11: 54,548,089 (GRCm39) |
I753V |
possibly damaging |
Het |
Rdh14 |
T |
C |
12: 10,441,162 (GRCm39) |
V108A |
probably benign |
Het |
Rnf38 |
A |
T |
4: 44,138,748 (GRCm39) |
H248Q |
probably damaging |
Het |
Rsph6a |
A |
C |
7: 18,808,001 (GRCm39) |
Y388S |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,746,609 (GRCm39) |
D1981G |
probably benign |
Het |
Sf3a3 |
A |
G |
4: 124,609,694 (GRCm39) |
K97E |
possibly damaging |
Het |
Shisa9 |
A |
G |
16: 12,085,620 (GRCm39) |
T394A |
probably benign |
Het |
Slc43a2 |
T |
A |
11: 75,436,567 (GRCm39) |
|
probably null |
Het |
Slc45a1 |
A |
G |
4: 150,728,734 (GRCm39) |
F23S |
probably benign |
Het |
Slc7a10 |
T |
A |
7: 34,899,723 (GRCm39) |
V435E |
probably benign |
Het |
Snx15 |
A |
G |
19: 6,178,096 (GRCm39) |
Y28H |
probably damaging |
Het |
Spef2 |
T |
G |
15: 9,663,280 (GRCm39) |
K834Q |
possibly damaging |
Het |
Tdpoz2 |
G |
T |
3: 93,559,230 (GRCm39) |
Y247* |
probably null |
Het |
Tedc2 |
G |
A |
17: 24,436,923 (GRCm39) |
R271W |
possibly damaging |
Het |
Tfr2 |
C |
A |
5: 137,577,183 (GRCm39) |
H378Q |
probably benign |
Het |
Tigit |
T |
A |
16: 43,469,581 (GRCm39) |
H170L |
probably benign |
Het |
Tmem62 |
A |
T |
2: 120,817,107 (GRCm39) |
Q91L |
probably benign |
Het |
Tmtc1 |
G |
T |
6: 148,327,416 (GRCm39) |
C32* |
probably null |
Het |
Txndc12 |
G |
A |
4: 108,713,407 (GRCm39) |
V90I |
probably benign |
Het |
Vmn2r93 |
C |
A |
17: 18,546,063 (GRCm39) |
T645K |
probably benign |
Het |
Vmn2r96 |
C |
T |
17: 18,806,664 (GRCm39) |
T345I |
probably benign |
Het |
Vps13d |
A |
T |
4: 144,882,427 (GRCm39) |
D1055E |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,342,959 (GRCm39) |
I1733M |
probably benign |
Het |
Zfp512b |
T |
C |
2: 181,230,208 (GRCm39) |
H516R |
probably damaging |
Het |
Zfp606 |
T |
C |
7: 12,227,615 (GRCm39) |
S521P |
probably damaging |
Het |
Zfp715 |
A |
T |
7: 42,949,054 (GRCm39) |
V302E |
possibly damaging |
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 |
R1873:Adam34
|
UTSW |
8 |
44,104,843 (GRCm39) |
missense |
probably benign |
0.02 |
R1943:Adam34
|
UTSW |
8 |
44,104,852 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CTATACTACCTCCATGGCCACG -3'
(R):5'- GGTGACCGCTTTGGAAACTG -3'
Sequencing Primer
(F):5'- ATGGCCACGTAGTTGACAGTC -3'
(R):5'- CTTTGGAAACTGTGGCAATGATAGC -3'
|
Posted On |
2014-08-01 |