Incidental Mutation 'R4074:Adam34l'
ID |
316470 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam34l
|
Ensembl Gene |
ENSMUSG00000050190 |
Gene Name |
a disintegrin and metallopeptidase domain 34 like |
Synonyms |
Gm5346 |
MMRRC Submission |
040855-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R4074 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
44077988-44080313 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 44079387 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Tyrosine
at position 279
(F279Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058858
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056023]
|
AlphaFold |
Q7M766 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056023
AA Change: F279Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000058858 Gene: ENSMUSG00000050190 AA Change: F279Y
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
39 |
159 |
1.3e-18 |
PFAM |
Pfam:Reprolysin_5
|
205 |
384 |
1.1e-15 |
PFAM |
Pfam:Reprolysin_4
|
205 |
393 |
6.2e-9 |
PFAM |
Pfam:Reprolysin
|
207 |
397 |
1.7e-46 |
PFAM |
Pfam:Reprolysin_2
|
223 |
389 |
5.7e-14 |
PFAM |
Pfam:Reprolysin_3
|
231 |
352 |
2.6e-13 |
PFAM |
DISIN
|
416 |
491 |
2.48e-38 |
SMART |
ACR
|
492 |
628 |
3.4e-65 |
SMART |
EGF
|
634 |
664 |
2.69e1 |
SMART |
transmembrane domain
|
685 |
707 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
95% (63/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
T |
C |
2: 19,485,401 (GRCm39) |
E422G |
probably damaging |
Het |
Ace3 |
A |
G |
11: 105,888,040 (GRCm39) |
Y287C |
probably damaging |
Het |
Albfm1 |
T |
A |
5: 90,740,727 (GRCm39) |
|
probably null |
Het |
Arfgap3 |
C |
T |
15: 83,187,330 (GRCm39) |
A510T |
probably damaging |
Het |
Atg12 |
A |
G |
18: 46,870,491 (GRCm39) |
F92L |
probably benign |
Het |
Axl |
A |
G |
7: 25,463,336 (GRCm39) |
|
probably benign |
Het |
Chgb |
C |
A |
2: 132,635,847 (GRCm39) |
D596E |
possibly damaging |
Het |
Cmtr2 |
T |
A |
8: 110,947,849 (GRCm39) |
F53Y |
possibly damaging |
Het |
Cnot10 |
A |
G |
9: 114,452,015 (GRCm39) |
F254L |
possibly damaging |
Het |
Crb2 |
G |
T |
2: 37,676,855 (GRCm39) |
C251F |
probably damaging |
Het |
Crybg3 |
A |
T |
16: 59,376,120 (GRCm39) |
|
probably benign |
Het |
Cytl1 |
A |
G |
5: 37,892,940 (GRCm39) |
I17V |
unknown |
Het |
D930020B18Rik |
A |
G |
10: 121,492,123 (GRCm39) |
|
probably benign |
Het |
Depp1 |
A |
G |
6: 116,629,029 (GRCm39) |
N124S |
possibly damaging |
Het |
Dnah11 |
A |
G |
12: 118,009,413 (GRCm39) |
M2083T |
probably benign |
Het |
Dst |
A |
G |
1: 34,231,350 (GRCm39) |
E2656G |
probably benign |
Het |
Dst |
T |
C |
1: 34,267,542 (GRCm39) |
F4995L |
probably damaging |
Het |
Egf |
C |
T |
3: 129,529,618 (GRCm39) |
R264Q |
probably benign |
Het |
Eps15l1 |
A |
G |
8: 73,134,128 (GRCm39) |
I482T |
probably damaging |
Het |
Eqtn |
A |
G |
4: 94,808,199 (GRCm39) |
I201T |
possibly damaging |
Het |
Ero1a |
A |
T |
14: 45,529,893 (GRCm39) |
|
probably null |
Het |
Etl4 |
T |
C |
2: 20,814,030 (GRCm39) |
|
probably benign |
Het |
Fcho1 |
T |
C |
8: 72,163,013 (GRCm39) |
H672R |
probably damaging |
Het |
Glt6d1 |
T |
C |
2: 25,684,139 (GRCm39) |
D289G |
probably damaging |
Het |
Gm5134 |
T |
A |
10: 75,844,365 (GRCm39) |
W574R |
probably damaging |
Het |
Gm5414 |
T |
C |
15: 101,533,988 (GRCm39) |
N332D |
probably benign |
Het |
Gnb3 |
T |
A |
6: 124,813,942 (GRCm39) |
E215D |
probably benign |
Het |
Ighv1-30 |
C |
T |
12: 114,781,021 (GRCm39) |
|
noncoding transcript |
Het |
Ighv1-4 |
A |
G |
12: 114,451,147 (GRCm39) |
S15P |
possibly damaging |
Het |
Igkv1-133 |
T |
G |
6: 67,702,505 (GRCm39) |
Y74* |
probably null |
Het |
Il17f |
G |
A |
1: 20,847,987 (GRCm39) |
|
probably benign |
Het |
Itpr2 |
C |
T |
6: 146,274,742 (GRCm39) |
|
probably null |
Het |
Krtap31-1 |
T |
C |
11: 99,799,058 (GRCm39) |
I87T |
possibly damaging |
Het |
Lilra6 |
A |
T |
7: 3,917,889 (GRCm39) |
F85Y |
probably benign |
Het |
Lrig3 |
C |
T |
10: 125,849,277 (GRCm39) |
T999I |
probably benign |
Het |
Myh7b |
T |
C |
2: 155,460,678 (GRCm39) |
I277T |
probably damaging |
Het |
Myo3b |
T |
C |
2: 70,119,808 (GRCm39) |
F984S |
probably damaging |
Het |
Naip5 |
G |
A |
13: 100,382,572 (GRCm39) |
R46W |
probably damaging |
Het |
Nup205 |
T |
A |
6: 35,168,975 (GRCm39) |
|
probably null |
Het |
Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
Pde11a |
C |
T |
2: 76,168,242 (GRCm39) |
R237H |
probably damaging |
Het |
Pdk4 |
T |
C |
6: 5,491,865 (GRCm39) |
N69S |
probably benign |
Het |
Pot1a |
T |
C |
6: 25,752,356 (GRCm39) |
|
probably null |
Het |
Pramel33 |
A |
T |
5: 93,633,057 (GRCm39) |
M50K |
probably damaging |
Het |
Psg23 |
A |
T |
7: 18,341,043 (GRCm39) |
S404T |
possibly damaging |
Het |
Rev1 |
T |
G |
1: 38,093,319 (GRCm39) |
K1075T |
possibly damaging |
Het |
Rrbp1 |
T |
G |
2: 143,805,030 (GRCm39) |
Q1045P |
probably benign |
Het |
Scg2 |
A |
C |
1: 79,414,574 (GRCm39) |
F50V |
probably damaging |
Het |
Sel1l3 |
A |
G |
5: 53,311,629 (GRCm39) |
Y619H |
probably damaging |
Het |
Slco1a5 |
A |
T |
6: 142,213,950 (GRCm39) |
I57K |
possibly damaging |
Het |
Srp72 |
C |
A |
5: 77,146,098 (GRCm39) |
T633K |
probably benign |
Het |
Swt1 |
A |
G |
1: 151,270,520 (GRCm39) |
V565A |
probably benign |
Het |
Tesk1 |
A |
G |
4: 43,443,606 (GRCm39) |
I58V |
possibly damaging |
Het |
Tm2d3 |
T |
A |
7: 65,347,498 (GRCm39) |
L49* |
probably null |
Het |
Tmprss11e |
T |
C |
5: 86,863,502 (GRCm39) |
T188A |
possibly damaging |
Het |
Tnxb |
A |
G |
17: 34,890,845 (GRCm39) |
N396S |
probably benign |
Het |
Tuba8 |
T |
A |
6: 121,199,756 (GRCm39) |
S147T |
probably damaging |
Het |
Usp8 |
A |
G |
2: 126,594,290 (GRCm39) |
D822G |
probably damaging |
Het |
Vmn2r13 |
T |
A |
5: 109,304,566 (GRCm39) |
I622F |
probably damaging |
Het |
Vmn2r24 |
A |
T |
6: 123,764,374 (GRCm39) |
H417L |
possibly damaging |
Het |
Zfp608 |
A |
T |
18: 55,031,180 (GRCm39) |
V920E |
probably damaging |
Het |
Zmym2 |
T |
C |
14: 57,140,461 (GRCm39) |
L100P |
probably damaging |
Het |
|
Other mutations in Adam34l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00321:Adam34l
|
APN |
8 |
44,078,418 (GRCm39) |
missense |
probably benign |
0.12 |
IGL00391:Adam34l
|
APN |
8 |
44,078,666 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00422:Adam34l
|
APN |
8 |
44,079,388 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00664:Adam34l
|
APN |
8 |
44,079,006 (GRCm39) |
missense |
probably benign |
|
IGL01095:Adam34l
|
APN |
8 |
44,079,133 (GRCm39) |
missense |
probably benign |
0.22 |
IGL01113:Adam34l
|
APN |
8 |
44,079,189 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01444:Adam34l
|
APN |
8 |
44,079,470 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01782:Adam34l
|
APN |
8 |
44,079,772 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01921:Adam34l
|
APN |
8 |
44,078,548 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01964:Adam34l
|
APN |
8 |
44,079,798 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02139:Adam34l
|
APN |
8 |
44,078,615 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02555:Adam34l
|
APN |
8 |
44,078,305 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02951:Adam34l
|
APN |
8 |
44,080,125 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0056:Adam34l
|
UTSW |
8 |
44,078,540 (GRCm39) |
nonsense |
probably null |
|
R0218:Adam34l
|
UTSW |
8 |
44,079,477 (GRCm39) |
missense |
probably benign |
0.00 |
R0530:Adam34l
|
UTSW |
8 |
44,079,568 (GRCm39) |
missense |
probably benign |
0.00 |
R0925:Adam34l
|
UTSW |
8 |
44,079,340 (GRCm39) |
missense |
probably benign |
0.11 |
R0927:Adam34l
|
UTSW |
8 |
44,078,160 (GRCm39) |
missense |
probably benign |
0.00 |
R0975:Adam34l
|
UTSW |
8 |
44,078,155 (GRCm39) |
missense |
probably benign |
|
R1300:Adam34l
|
UTSW |
8 |
44,079,881 (GRCm39) |
nonsense |
probably null |
|
R1728:Adam34l
|
UTSW |
8 |
44,078,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R1729:Adam34l
|
UTSW |
8 |
44,078,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R1801:Adam34l
|
UTSW |
8 |
44,078,954 (GRCm39) |
nonsense |
probably null |
|
R1869:Adam34l
|
UTSW |
8 |
44,078,132 (GRCm39) |
nonsense |
probably null |
|
R1870:Adam34l
|
UTSW |
8 |
44,078,132 (GRCm39) |
nonsense |
probably null |
|
R1871:Adam34l
|
UTSW |
8 |
44,078,132 (GRCm39) |
nonsense |
probably null |
|
R1992:Adam34l
|
UTSW |
8 |
44,080,176 (GRCm39) |
missense |
probably benign |
0.44 |
R2008:Adam34l
|
UTSW |
8 |
44,080,074 (GRCm39) |
missense |
probably benign |
0.00 |
R2013:Adam34l
|
UTSW |
8 |
44,079,442 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2022:Adam34l
|
UTSW |
8 |
44,078,954 (GRCm39) |
nonsense |
probably null |
|
R2175:Adam34l
|
UTSW |
8 |
44,078,475 (GRCm39) |
missense |
probably benign |
|
R2875:Adam34l
|
UTSW |
8 |
44,080,177 (GRCm39) |
nonsense |
probably null |
|
R3406:Adam34l
|
UTSW |
8 |
44,079,089 (GRCm39) |
nonsense |
probably null |
|
R3845:Adam34l
|
UTSW |
8 |
44,079,669 (GRCm39) |
missense |
probably benign |
0.00 |
R4033:Adam34l
|
UTSW |
8 |
44,079,710 (GRCm39) |
missense |
probably benign |
0.28 |
R4072:Adam34l
|
UTSW |
8 |
44,079,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R4075:Adam34l
|
UTSW |
8 |
44,079,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R4076:Adam34l
|
UTSW |
8 |
44,079,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R4153:Adam34l
|
UTSW |
8 |
44,079,564 (GRCm39) |
missense |
probably benign |
0.04 |
R4330:Adam34l
|
UTSW |
8 |
44,079,287 (GRCm39) |
missense |
probably benign |
|
R4612:Adam34l
|
UTSW |
8 |
44,079,587 (GRCm39) |
missense |
probably benign |
0.09 |
R4662:Adam34l
|
UTSW |
8 |
44,080,116 (GRCm39) |
missense |
probably benign |
0.26 |
R5032:Adam34l
|
UTSW |
8 |
44,079,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R5077:Adam34l
|
UTSW |
8 |
44,080,200 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5504:Adam34l
|
UTSW |
8 |
44,078,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R5697:Adam34l
|
UTSW |
8 |
44,079,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R6232:Adam34l
|
UTSW |
8 |
44,078,949 (GRCm39) |
missense |
probably benign |
0.00 |
R6233:Adam34l
|
UTSW |
8 |
44,078,949 (GRCm39) |
missense |
probably benign |
0.00 |
R6234:Adam34l
|
UTSW |
8 |
44,078,949 (GRCm39) |
missense |
probably benign |
0.00 |
R6235:Adam34l
|
UTSW |
8 |
44,078,949 (GRCm39) |
missense |
probably benign |
0.00 |
R6241:Adam34l
|
UTSW |
8 |
44,079,133 (GRCm39) |
missense |
probably benign |
0.22 |
R6392:Adam34l
|
UTSW |
8 |
44,079,038 (GRCm39) |
missense |
probably benign |
0.09 |
R6439:Adam34l
|
UTSW |
8 |
44,078,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R6454:Adam34l
|
UTSW |
8 |
44,079,845 (GRCm39) |
missense |
probably damaging |
0.96 |
R6455:Adam34l
|
UTSW |
8 |
44,079,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R6767:Adam34l
|
UTSW |
8 |
44,079,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R6774:Adam34l
|
UTSW |
8 |
44,078,220 (GRCm39) |
missense |
probably benign |
0.00 |
R6877:Adam34l
|
UTSW |
8 |
44,078,274 (GRCm39) |
missense |
probably benign |
0.02 |
R6911:Adam34l
|
UTSW |
8 |
44,078,146 (GRCm39) |
missense |
probably benign |
0.02 |
R7211:Adam34l
|
UTSW |
8 |
44,078,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R7597:Adam34l
|
UTSW |
8 |
44,078,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R7602:Adam34l
|
UTSW |
8 |
44,079,703 (GRCm39) |
missense |
probably damaging |
0.99 |
R7797:Adam34l
|
UTSW |
8 |
44,079,411 (GRCm39) |
missense |
probably benign |
0.04 |
R7981:Adam34l
|
UTSW |
8 |
44,078,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R8154:Adam34l
|
UTSW |
8 |
44,078,424 (GRCm39) |
missense |
probably damaging |
0.97 |
R8215:Adam34l
|
UTSW |
8 |
44,079,538 (GRCm39) |
missense |
probably benign |
0.05 |
R9180:Adam34l
|
UTSW |
8 |
44,079,970 (GRCm39) |
nonsense |
probably null |
|
R9307:Adam34l
|
UTSW |
8 |
44,079,304 (GRCm39) |
missense |
probably benign |
0.00 |
R9733:Adam34l
|
UTSW |
8 |
44,079,186 (GRCm39) |
missense |
possibly damaging |
0.94 |
RF001:Adam34l
|
UTSW |
8 |
44,079,942 (GRCm39) |
missense |
possibly damaging |
0.79 |
Z1177:Adam34l
|
UTSW |
8 |
44,079,583 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCATGTGCTACGATGAATGCC -3'
(R):5'- GTGGACCCATCACAGGTTTATTG -3'
Sequencing Primer
(F):5'- TGTGCTACGATGAATGCCAGATATG -3'
(R):5'- TGTTGCAAGTAGTCAATGG -3'
|
Posted On |
2015-05-15 |