Incidental Mutation 'IGL01614:Lama5'
ID |
92330 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lama5
|
Ensembl Gene |
ENSMUSG00000015647 |
Gene Name |
laminin, alpha 5 |
Synonyms |
|
Accession Numbers |
Ncbi RefSeq: NM_001081171.2; MGI: 105382
|
Is this an essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01614
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
180176373-180225859 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 180180864 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Valine
at position 2832
(F2832V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000015791
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015791]
[ENSMUST00000061437]
|
AlphaFold |
no structure available at present |
PDB Structure |
LAMININ ALPHA5 CHAIN N-TERMINAL FRAGMENT [X-RAY DIFFRACTION]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000015791
AA Change: F2832V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000015791 Gene: ENSMUSG00000015647 AA Change: F2832V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
40 |
N/A |
INTRINSIC |
LamNT
|
44 |
303 |
1.06e-132 |
SMART |
EGF_Lam
|
305 |
361 |
4.35e-6 |
SMART |
EGF_Lam
|
364 |
431 |
5.78e-11 |
SMART |
EGF_Lam
|
434 |
476 |
1.32e-5 |
SMART |
EGF_Lam
|
500 |
544 |
8.63e-10 |
SMART |
EGF_Lam
|
547 |
590 |
1.16e-10 |
SMART |
EGF_Lam
|
593 |
635 |
4.63e-10 |
SMART |
EGF_Lam
|
638 |
680 |
6.25e-7 |
SMART |
EGF_Lam
|
683 |
726 |
3.1e-11 |
SMART |
EGF_Lam
|
730 |
779 |
2.99e-4 |
SMART |
EGF_Lam
|
782 |
831 |
4.66e-6 |
SMART |
EGF_Lam
|
834 |
878 |
3.48e-5 |
SMART |
low complexity region
|
1261 |
1273 |
N/A |
INTRINSIC |
EGF_Lam
|
1443 |
1486 |
7.01e-10 |
SMART |
EGF_like
|
1489 |
1530 |
3.64e-1 |
SMART |
EGF_Lam
|
1533 |
1579 |
8.56e-14 |
SMART |
EGF_Lam
|
1582 |
1630 |
1.86e-14 |
SMART |
LamB
|
1689 |
1819 |
5.86e-61 |
SMART |
EGF_like
|
1818 |
1862 |
2.74e0 |
SMART |
EGF_Lam
|
1865 |
1912 |
3.32e-11 |
SMART |
EGF_Lam
|
1915 |
1968 |
1.61e-9 |
SMART |
EGF_Lam
|
1971 |
2022 |
6.39e-13 |
SMART |
EGF_Lam
|
2025 |
2069 |
1.94e-12 |
SMART |
EGF_Lam
|
2072 |
2116 |
1.35e-11 |
SMART |
EGF_like
|
2103 |
2145 |
3.1e1 |
SMART |
EGF_Lam
|
2119 |
2166 |
1.18e-2 |
SMART |
Pfam:Laminin_I
|
2189 |
2453 |
1.7e-65 |
PFAM |
low complexity region
|
2532 |
2548 |
N/A |
INTRINSIC |
low complexity region
|
2557 |
2569 |
N/A |
INTRINSIC |
low complexity region
|
2632 |
2641 |
N/A |
INTRINSIC |
low complexity region
|
2663 |
2676 |
N/A |
INTRINSIC |
LamG
|
2760 |
2912 |
3.97e-8 |
SMART |
LamG
|
2966 |
3103 |
1.78e-10 |
SMART |
LamG
|
3149 |
3274 |
1.11e-20 |
SMART |
LamG
|
3359 |
3497 |
4.05e-23 |
SMART |
LamG
|
3539 |
3670 |
3e-26 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000061437
|
SMART Domains |
Protein: ENSMUSP00000050076 Gene: ENSMUSG00000039041
Domain | Start | End | E-Value | Type |
Pfam:Proteasom_Rpn13
|
29 |
111 |
3.5e-35 |
PFAM |
low complexity region
|
135 |
161 |
N/A |
INTRINSIC |
low complexity region
|
173 |
254 |
N/A |
INTRINSIC |
Pfam:RPN13_C
|
268 |
381 |
7.3e-38 |
PFAM |
low complexity region
|
390 |
403 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123906
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128029
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130796
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145230
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147383
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149812
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152540
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152850
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185089
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
Strain: 3624772; 1934917
Lethality: E1-E17
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013] PHENOTYPE: Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation. [provided by MGI curators]
|
Allele List at MGI |
All alleles(49) : Targeted(5) Gene trapped(44)
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf5 |
T |
A |
17: 43,424,471 |
S143T |
possibly damaging |
Het |
Arhgap32 |
G |
T |
9: 32,260,505 |
S1527I |
probably damaging |
Het |
Atp8a2 |
A |
G |
14: 60,044,988 |
V128A |
probably damaging |
Het |
Bpi |
T |
C |
2: 158,271,946 |
F255L |
probably damaging |
Het |
Clptm1 |
A |
T |
7: 19,637,700 |
D269E |
probably benign |
Het |
E2f7 |
T |
C |
10: 110,759,978 |
V63A |
probably damaging |
Het |
Eif4e1b |
T |
A |
13: 54,786,916 |
I184N |
probably damaging |
Het |
Fam49a |
T |
C |
12: 12,361,573 |
|
probably null |
Het |
Gal3st1 |
T |
A |
11: 3,998,996 |
L401Q |
probably damaging |
Het |
Gm7808 |
G |
A |
9: 19,928,146 |
|
probably benign |
Het |
Hdac5 |
G |
A |
11: 102,200,028 |
T741I |
probably benign |
Het |
Ipo5 |
A |
G |
14: 120,935,095 |
T522A |
probably benign |
Het |
Ltk |
A |
C |
2: 119,753,487 |
L230R |
probably damaging |
Het |
Mettl14 |
A |
T |
3: 123,373,960 |
|
probably benign |
Het |
Myom1 |
T |
C |
17: 71,126,178 |
F1507L |
possibly damaging |
Het |
Nsd3 |
T |
A |
8: 25,666,079 |
I554K |
possibly damaging |
Het |
Olfr1044 |
A |
T |
2: 86,171,397 |
I140N |
possibly damaging |
Het |
Olfr107 |
G |
A |
17: 37,405,638 |
C30Y |
probably benign |
Het |
Olfr340 |
T |
G |
2: 36,452,624 |
I13S |
probably benign |
Het |
Olfr644 |
C |
T |
7: 104,068,369 |
V221I |
probably benign |
Het |
Prr14 |
T |
A |
7: 127,475,133 |
L279H |
probably damaging |
Het |
Rbm25 |
G |
T |
12: 83,659,567 |
D229Y |
probably damaging |
Het |
Sdk2 |
T |
C |
11: 113,793,858 |
K1926E |
probably damaging |
Het |
Slc25a23 |
C |
T |
17: 57,045,579 |
R435Q |
probably null |
Het |
Srebf2 |
A |
G |
15: 82,178,853 |
N457S |
probably benign |
Het |
Stac2 |
T |
C |
11: 98,052,948 |
D12G |
probably benign |
Het |
Tal1 |
A |
C |
4: 115,063,128 |
|
probably null |
Het |
Usp25 |
G |
A |
16: 77,077,117 |
R527Q |
probably damaging |
Het |
|
Other mutations in Lama5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01067:Lama5
|
APN |
2 |
180176543 |
unclassified |
probably benign |
|
IGL01370:Lama5
|
APN |
2 |
180197400 |
missense |
possibly damaging |
0.87 |
IGL01474:Lama5
|
APN |
2 |
180196570 |
missense |
probably damaging |
1.00 |
IGL01941:Lama5
|
APN |
2 |
180192392 |
missense |
possibly damaging |
0.71 |
IGL01953:Lama5
|
APN |
2 |
180190704 |
missense |
probably damaging |
0.97 |
IGL02093:Lama5
|
APN |
2 |
180188587 |
missense |
probably damaging |
1.00 |
IGL02197:Lama5
|
APN |
2 |
180207219 |
missense |
possibly damaging |
0.82 |
IGL02308:Lama5
|
APN |
2 |
180190327 |
splice site |
probably benign |
|
IGL02314:Lama5
|
APN |
2 |
180194482 |
splice site |
probably benign |
|
IGL02317:Lama5
|
APN |
2 |
180191319 |
missense |
probably damaging |
1.00 |
IGL02354:Lama5
|
APN |
2 |
180193884 |
nonsense |
probably null |
|
IGL02361:Lama5
|
APN |
2 |
180193884 |
nonsense |
probably null |
|
IGL02557:Lama5
|
APN |
2 |
180190932 |
nonsense |
probably null |
|
IGL03026:Lama5
|
APN |
2 |
180195967 |
missense |
probably benign |
0.34 |
IGL03160:Lama5
|
APN |
2 |
180180335 |
missense |
probably damaging |
1.00 |
IGL03238:Lama5
|
APN |
2 |
180188574 |
missense |
probably benign |
|
IGL03390:Lama5
|
APN |
2 |
180207218 |
missense |
probably damaging |
1.00 |
Salty
|
UTSW |
2 |
180181651 |
missense |
possibly damaging |
0.84 |
PIT4378001:Lama5
|
UTSW |
2 |
180189445 |
missense |
possibly damaging |
0.89 |
R0003:Lama5
|
UTSW |
2 |
180178079 |
splice site |
probably null |
|
R0056:Lama5
|
UTSW |
2 |
180187106 |
intron |
probably benign |
|
R0147:Lama5
|
UTSW |
2 |
180190406 |
missense |
probably benign |
|
R0148:Lama5
|
UTSW |
2 |
180190406 |
missense |
probably benign |
|
R0310:Lama5
|
UTSW |
2 |
180181566 |
splice site |
probably benign |
|
R0326:Lama5
|
UTSW |
2 |
180182426 |
missense |
possibly damaging |
0.90 |
R0368:Lama5
|
UTSW |
2 |
180181230 |
nonsense |
probably null |
|
R0479:Lama5
|
UTSW |
2 |
180184457 |
missense |
probably benign |
0.03 |
R0490:Lama5
|
UTSW |
2 |
180180169 |
missense |
possibly damaging |
0.90 |
R0636:Lama5
|
UTSW |
2 |
180189331 |
critical splice donor site |
probably null |
|
R0704:Lama5
|
UTSW |
2 |
180179484 |
missense |
possibly damaging |
0.84 |
R0733:Lama5
|
UTSW |
2 |
180180718 |
missense |
possibly damaging |
0.83 |
R1017:Lama5
|
UTSW |
2 |
180195420 |
missense |
probably damaging |
1.00 |
R1078:Lama5
|
UTSW |
2 |
180179764 |
unclassified |
probably benign |
|
R1294:Lama5
|
UTSW |
2 |
180190921 |
missense |
probably benign |
0.00 |
R1423:Lama5
|
UTSW |
2 |
180195641 |
missense |
probably damaging |
1.00 |
R1438:Lama5
|
UTSW |
2 |
180182800 |
missense |
probably benign |
0.01 |
R1447:Lama5
|
UTSW |
2 |
180185878 |
missense |
probably damaging |
0.99 |
R1540:Lama5
|
UTSW |
2 |
180180151 |
missense |
probably benign |
|
R1601:Lama5
|
UTSW |
2 |
180197745 |
missense |
probably damaging |
1.00 |
R1624:Lama5
|
UTSW |
2 |
180206758 |
missense |
probably benign |
0.02 |
R1674:Lama5
|
UTSW |
2 |
180201987 |
missense |
probably benign |
0.00 |
R1687:Lama5
|
UTSW |
2 |
180194066 |
missense |
probably benign |
0.00 |
R1696:Lama5
|
UTSW |
2 |
180202486 |
missense |
probably damaging |
1.00 |
R1701:Lama5
|
UTSW |
2 |
180221369 |
missense |
probably damaging |
1.00 |
R1778:Lama5
|
UTSW |
2 |
180195481 |
splice site |
probably benign |
|
R1936:Lama5
|
UTSW |
2 |
180190921 |
missense |
probably benign |
0.00 |
R1939:Lama5
|
UTSW |
2 |
180190921 |
missense |
probably benign |
0.00 |
R1940:Lama5
|
UTSW |
2 |
180190921 |
missense |
probably benign |
0.00 |
R1953:Lama5
|
UTSW |
2 |
180190747 |
missense |
possibly damaging |
0.94 |
R1966:Lama5
|
UTSW |
2 |
180188352 |
missense |
probably damaging |
1.00 |
R2024:Lama5
|
UTSW |
2 |
180179130 |
missense |
probably benign |
0.00 |
R2079:Lama5
|
UTSW |
2 |
180225508 |
missense |
possibly damaging |
0.68 |
R2115:Lama5
|
UTSW |
2 |
180186885 |
missense |
probably damaging |
1.00 |
R2173:Lama5
|
UTSW |
2 |
180196242 |
missense |
probably benign |
0.00 |
R2272:Lama5
|
UTSW |
2 |
180178603 |
missense |
possibly damaging |
0.93 |
R2357:Lama5
|
UTSW |
2 |
180180097 |
missense |
probably benign |
0.01 |
R2860:Lama5
|
UTSW |
2 |
180187247 |
missense |
probably benign |
0.00 |
R2861:Lama5
|
UTSW |
2 |
180187247 |
missense |
probably benign |
0.00 |
R2939:Lama5
|
UTSW |
2 |
180198954 |
missense |
probably damaging |
1.00 |
R3053:Lama5
|
UTSW |
2 |
180183067 |
missense |
probably damaging |
0.99 |
R3430:Lama5
|
UTSW |
2 |
180196317 |
missense |
probably benign |
0.00 |
R3752:Lama5
|
UTSW |
2 |
180187222 |
missense |
probably damaging |
1.00 |
R3782:Lama5
|
UTSW |
2 |
180194563 |
missense |
possibly damaging |
0.57 |
R3901:Lama5
|
UTSW |
2 |
180182351 |
splice site |
probably benign |
|
R4248:Lama5
|
UTSW |
2 |
180180427 |
missense |
possibly damaging |
0.84 |
R4626:Lama5
|
UTSW |
2 |
180184460 |
missense |
probably damaging |
0.98 |
R4638:Lama5
|
UTSW |
2 |
180190413 |
missense |
possibly damaging |
0.89 |
R4669:Lama5
|
UTSW |
2 |
180180637 |
missense |
probably damaging |
1.00 |
R4673:Lama5
|
UTSW |
2 |
180199266 |
missense |
probably damaging |
1.00 |
R4677:Lama5
|
UTSW |
2 |
180179366 |
missense |
possibly damaging |
0.69 |
R4701:Lama5
|
UTSW |
2 |
180191696 |
missense |
probably damaging |
1.00 |
R4774:Lama5
|
UTSW |
2 |
180185941 |
missense |
probably damaging |
1.00 |
R4880:Lama5
|
UTSW |
2 |
180177068 |
unclassified |
probably benign |
|
R4923:Lama5
|
UTSW |
2 |
180184149 |
missense |
probably benign |
0.18 |
R4960:Lama5
|
UTSW |
2 |
180208252 |
critical splice donor site |
probably null |
|
R4983:Lama5
|
UTSW |
2 |
180193449 |
missense |
probably benign |
0.13 |
R5061:Lama5
|
UTSW |
2 |
180198786 |
nonsense |
probably null |
|
R5080:Lama5
|
UTSW |
2 |
180207200 |
nonsense |
probably null |
|
R5135:Lama5
|
UTSW |
2 |
180202220 |
missense |
possibly damaging |
0.89 |
R5206:Lama5
|
UTSW |
2 |
180191304 |
missense |
probably damaging |
1.00 |
R5296:Lama5
|
UTSW |
2 |
180193801 |
missense |
probably damaging |
1.00 |
R5319:Lama5
|
UTSW |
2 |
180181118 |
missense |
probably damaging |
1.00 |
R5355:Lama5
|
UTSW |
2 |
180181651 |
missense |
possibly damaging |
0.84 |
R5388:Lama5
|
UTSW |
2 |
180190746 |
missense |
possibly damaging |
0.83 |
R5528:Lama5
|
UTSW |
2 |
180194563 |
missense |
probably benign |
0.21 |
R5536:Lama5
|
UTSW |
2 |
180189349 |
missense |
probably damaging |
0.99 |
R5658:Lama5
|
UTSW |
2 |
180208276 |
nonsense |
probably null |
|
R5823:Lama5
|
UTSW |
2 |
180192492 |
missense |
probably benign |
0.04 |
R5885:Lama5
|
UTSW |
2 |
180201831 |
missense |
probably damaging |
1.00 |
R5889:Lama5
|
UTSW |
2 |
180193674 |
intron |
probably benign |
|
R5912:Lama5
|
UTSW |
2 |
180195475 |
missense |
probably damaging |
1.00 |
R5955:Lama5
|
UTSW |
2 |
180197474 |
missense |
probably damaging |
1.00 |
R6015:Lama5
|
UTSW |
2 |
180185392 |
missense |
probably benign |
0.36 |
R6037:Lama5
|
UTSW |
2 |
180207013 |
missense |
probably damaging |
1.00 |
R6037:Lama5
|
UTSW |
2 |
180207013 |
missense |
probably damaging |
1.00 |
R6191:Lama5
|
UTSW |
2 |
180180611 |
missense |
probably damaging |
0.98 |
R6191:Lama5
|
UTSW |
2 |
180185959 |
missense |
probably damaging |
1.00 |
R6359:Lama5
|
UTSW |
2 |
180195982 |
missense |
probably benign |
0.01 |
R6385:Lama5
|
UTSW |
2 |
180196533 |
missense |
probably damaging |
1.00 |
R6406:Lama5
|
UTSW |
2 |
180197464 |
nonsense |
probably null |
|
R6552:Lama5
|
UTSW |
2 |
180181154 |
missense |
probably damaging |
0.98 |
R6632:Lama5
|
UTSW |
2 |
180191662 |
missense |
probably damaging |
1.00 |
R6633:Lama5
|
UTSW |
2 |
180191662 |
missense |
probably damaging |
1.00 |
R6645:Lama5
|
UTSW |
2 |
180179670 |
missense |
probably damaging |
1.00 |
R6731:Lama5
|
UTSW |
2 |
180188574 |
missense |
probably benign |
0.09 |
R6744:Lama5
|
UTSW |
2 |
180191662 |
missense |
probably damaging |
1.00 |
R6798:Lama5
|
UTSW |
2 |
180191662 |
missense |
probably damaging |
1.00 |
R6799:Lama5
|
UTSW |
2 |
180191662 |
missense |
probably damaging |
1.00 |
R6801:Lama5
|
UTSW |
2 |
180191662 |
missense |
probably damaging |
1.00 |
R6851:Lama5
|
UTSW |
2 |
180191662 |
missense |
probably damaging |
1.00 |
R6869:Lama5
|
UTSW |
2 |
180191662 |
missense |
probably damaging |
1.00 |
R6881:Lama5
|
UTSW |
2 |
180191662 |
missense |
probably damaging |
1.00 |
R6882:Lama5
|
UTSW |
2 |
180191662 |
missense |
probably damaging |
1.00 |
R6884:Lama5
|
UTSW |
2 |
180191662 |
missense |
probably damaging |
1.00 |
R7022:Lama5
|
UTSW |
2 |
180180731 |
missense |
probably damaging |
1.00 |
R7204:Lama5
|
UTSW |
2 |
180202177 |
missense |
probably damaging |
1.00 |
R7207:Lama5
|
UTSW |
2 |
180207084 |
missense |
probably damaging |
0.98 |
R7282:Lama5
|
UTSW |
2 |
180201795 |
missense |
probably damaging |
1.00 |
R7367:Lama5
|
UTSW |
2 |
180192958 |
missense |
probably benign |
0.01 |
R7410:Lama5
|
UTSW |
2 |
180202390 |
critical splice donor site |
probably null |
|
R7699:Lama5
|
UTSW |
2 |
180180861 |
missense |
probably damaging |
1.00 |
R7849:Lama5
|
UTSW |
2 |
180201812 |
missense |
probably damaging |
1.00 |
R7909:Lama5
|
UTSW |
2 |
180192276 |
missense |
possibly damaging |
0.95 |
R7948:Lama5
|
UTSW |
2 |
180202201 |
missense |
probably damaging |
1.00 |
R8153:Lama5
|
UTSW |
2 |
180187931 |
missense |
probably benign |
0.37 |
R8317:Lama5
|
UTSW |
2 |
180206991 |
missense |
probably damaging |
1.00 |
R8351:Lama5
|
UTSW |
2 |
180195608 |
missense |
probably damaging |
1.00 |
R8370:Lama5
|
UTSW |
2 |
180201487 |
missense |
possibly damaging |
0.80 |
R8398:Lama5
|
UTSW |
2 |
180197034 |
critical splice donor site |
probably null |
|
R8401:Lama5
|
UTSW |
2 |
180198787 |
missense |
probably damaging |
1.00 |
R8404:Lama5
|
UTSW |
2 |
180195222 |
missense |
probably damaging |
1.00 |
R8502:Lama5
|
UTSW |
2 |
180195222 |
missense |
probably damaging |
1.00 |
R8694:Lama5
|
UTSW |
2 |
180180884 |
missense |
probably damaging |
0.98 |
R8705:Lama5
|
UTSW |
2 |
180178561 |
missense |
probably damaging |
1.00 |
R8732:Lama5
|
UTSW |
2 |
180186688 |
missense |
probably damaging |
1.00 |
R8755:Lama5
|
UTSW |
2 |
180190921 |
missense |
probably benign |
0.00 |
R8786:Lama5
|
UTSW |
2 |
180196307 |
missense |
probably damaging |
1.00 |
R8926:Lama5
|
UTSW |
2 |
180193990 |
missense |
probably benign |
0.08 |
R8928:Lama5
|
UTSW |
2 |
180202039 |
missense |
probably damaging |
1.00 |
R8953:Lama5
|
UTSW |
2 |
180193520 |
missense |
probably damaging |
0.99 |
R8958:Lama5
|
UTSW |
2 |
180193799 |
missense |
probably benign |
|
R9002:Lama5
|
UTSW |
2 |
180196518 |
missense |
probably damaging |
1.00 |
R9081:Lama5
|
UTSW |
2 |
180192137 |
nonsense |
probably null |
|
R9165:Lama5
|
UTSW |
2 |
180179493 |
missense |
probably damaging |
0.99 |
R9233:Lama5
|
UTSW |
2 |
180198709 |
nonsense |
probably null |
|
R9311:Lama5
|
UTSW |
2 |
180196482 |
critical splice donor site |
probably null |
|
R9443:Lama5
|
UTSW |
2 |
180201729 |
missense |
probably benign |
0.00 |
RF020:Lama5
|
UTSW |
2 |
180196178 |
missense |
probably benign |
|
X0065:Lama5
|
UTSW |
2 |
180181731 |
missense |
probably benign |
0.26 |
Z1177:Lama5
|
UTSW |
2 |
180183630 |
missense |
probably benign |
0.03 |
Z1177:Lama5
|
UTSW |
2 |
180189419 |
missense |
probably damaging |
1.00 |
Z1177:Lama5
|
UTSW |
2 |
180190714 |
missense |
possibly damaging |
0.95 |
Z1177:Lama5
|
UTSW |
2 |
180198810 |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-12-09 |