Incidental Mutation 'R6793:Fam135a'
ID |
532674 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam135a
|
Ensembl Gene |
ENSMUSG00000026153 |
Gene Name |
family with sequence similarity 135, member A |
Synonyms |
4921533L14Rik |
MMRRC Submission |
044906-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R6793 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
24050174-24139422 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24107006 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 44
(V44A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140766
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027337]
[ENSMUST00000186999]
[ENSMUST00000187369]
[ENSMUST00000187752]
[ENSMUST00000188712]
|
AlphaFold |
Q6NS59 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027337
AA Change: V44A
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000027337 Gene: ENSMUSG00000026153 AA Change: V44A
Domain | Start | End | E-Value | Type |
Pfam:DUF3657
|
111 |
172 |
1.9e-19 |
PFAM |
coiled coil region
|
270 |
295 |
N/A |
INTRINSIC |
low complexity region
|
489 |
502 |
N/A |
INTRINSIC |
low complexity region
|
842 |
853 |
N/A |
INTRINSIC |
low complexity region
|
1072 |
1085 |
N/A |
INTRINSIC |
Blast:LRRNT
|
1139 |
1172 |
4e-6 |
BLAST |
low complexity region
|
1173 |
1184 |
N/A |
INTRINSIC |
Pfam:DUF676
|
1235 |
1431 |
9e-65 |
PFAM |
Pfam:PGAP1
|
1237 |
1440 |
3.9e-8 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186999
AA Change: V44A
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000140198 Gene: ENSMUSG00000026153 AA Change: V44A
Domain | Start | End | E-Value | Type |
Pfam:DUF3657
|
111 |
173 |
1.8e-15 |
PFAM |
Pfam:DUF3657
|
338 |
395 |
7.3e-8 |
PFAM |
low complexity region
|
672 |
683 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187369
AA Change: V44A
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000140766 Gene: ENSMUSG00000026153 AA Change: V44A
Domain | Start | End | E-Value | Type |
Pfam:DUF3657
|
111 |
173 |
3e-15 |
PFAM |
coiled coil region
|
270 |
295 |
N/A |
INTRINSIC |
Pfam:DUF3657
|
312 |
369 |
1.2e-7 |
PFAM |
low complexity region
|
646 |
657 |
N/A |
INTRINSIC |
low complexity region
|
876 |
889 |
N/A |
INTRINSIC |
Blast:LRRNT
|
943 |
976 |
4e-6 |
BLAST |
low complexity region
|
977 |
988 |
N/A |
INTRINSIC |
Pfam:DUF676
|
1039 |
1235 |
6.8e-62 |
PFAM |
Pfam:PGAP1
|
1041 |
1259 |
8.1e-5 |
PFAM |
Pfam:LCAT
|
1097 |
1203 |
2.3e-4 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187752
|
SMART Domains |
Protein: ENSMUSP00000139633 Gene: ENSMUSG00000026153
Domain | Start | End | E-Value | Type |
Pfam:DUF3657
|
68 |
130 |
3e-15 |
PFAM |
Pfam:DUF3657
|
295 |
352 |
1.2e-7 |
PFAM |
low complexity region
|
629 |
640 |
N/A |
INTRINSIC |
low complexity region
|
859 |
872 |
N/A |
INTRINSIC |
Blast:LRRNT
|
926 |
959 |
4e-6 |
BLAST |
low complexity region
|
960 |
971 |
N/A |
INTRINSIC |
Pfam:DUF676
|
1022 |
1218 |
6.7e-62 |
PFAM |
Pfam:PGAP1
|
1024 |
1242 |
8e-5 |
PFAM |
Pfam:LCAT
|
1080 |
1186 |
2.2e-4 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000188712
AA Change: V44A
PolyPhen 2
Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
A |
T |
9: 124,058,052 (GRCm39) |
N19K |
possibly damaging |
Het |
A2ml1 |
G |
A |
6: 128,523,292 (GRCm39) |
Q1215* |
probably null |
Het |
Abraxas2 |
T |
C |
7: 132,476,563 (GRCm39) |
I98T |
probably damaging |
Het |
Ankrd17 |
G |
A |
5: 90,413,371 (GRCm39) |
T1181I |
probably damaging |
Het |
Bsn |
T |
A |
9: 107,991,814 (GRCm39) |
K1313* |
probably null |
Het |
Chst4 |
A |
T |
8: 110,756,699 (GRCm39) |
V388D |
probably damaging |
Het |
Ckap5 |
T |
G |
2: 91,399,054 (GRCm39) |
W613G |
probably damaging |
Het |
Clock |
GACTCACT |
GACT |
5: 76,384,967 (GRCm39) |
|
probably null |
Het |
Enpp1 |
T |
C |
10: 24,531,723 (GRCm39) |
D520G |
probably damaging |
Het |
Epha3 |
T |
C |
16: 63,593,818 (GRCm39) |
N90S |
probably benign |
Het |
Esp36 |
A |
T |
17: 38,728,005 (GRCm39) |
M92K |
unknown |
Het |
Fndc8 |
T |
C |
11: 82,788,412 (GRCm39) |
S81P |
probably damaging |
Het |
Fsip2 |
T |
G |
2: 82,819,838 (GRCm39) |
N5190K |
probably benign |
Het |
Gabrr1 |
T |
G |
4: 33,162,712 (GRCm39) |
V426G |
possibly damaging |
Het |
Igkv6-15 |
T |
A |
6: 70,383,976 (GRCm39) |
M1L |
probably benign |
Het |
Lrrc36 |
A |
G |
8: 106,185,065 (GRCm39) |
E614G |
probably damaging |
Het |
Man1a2 |
A |
T |
3: 100,539,913 (GRCm39) |
I176K |
possibly damaging |
Het |
Mapk4 |
T |
A |
18: 74,063,539 (GRCm39) |
N561I |
probably damaging |
Het |
Med15 |
A |
T |
16: 17,470,567 (GRCm39) |
|
probably benign |
Het |
Mfsd2a |
A |
G |
4: 122,844,498 (GRCm39) |
V258A |
probably benign |
Het |
Micu3 |
G |
A |
8: 40,833,736 (GRCm39) |
V457I |
probably damaging |
Het |
Mov10l1 |
T |
A |
15: 88,880,387 (GRCm39) |
V291E |
possibly damaging |
Het |
Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
Ncbp1 |
T |
C |
4: 46,157,827 (GRCm39) |
I355T |
probably damaging |
Het |
Or51s1 |
A |
G |
7: 102,558,935 (GRCm39) |
V37A |
probably benign |
Het |
Or52ad1 |
T |
C |
7: 102,995,473 (GRCm39) |
T221A |
probably benign |
Het |
Otub2 |
A |
G |
12: 103,355,278 (GRCm39) |
|
probably benign |
Het |
Pcdh15 |
T |
C |
10: 74,466,971 (GRCm39) |
S1666P |
probably damaging |
Het |
Pcdha12 |
T |
A |
18: 37,155,234 (GRCm39) |
V651E |
probably damaging |
Het |
Pomt1 |
T |
C |
2: 32,132,961 (GRCm39) |
F186L |
probably damaging |
Het |
Prl3d3 |
G |
A |
13: 27,345,044 (GRCm39) |
A140T |
probably benign |
Het |
Ptprn |
G |
A |
1: 75,234,786 (GRCm39) |
T267I |
probably benign |
Het |
Qrfprl |
C |
T |
6: 65,358,405 (GRCm39) |
A43V |
probably benign |
Het |
Rhbdd2 |
T |
A |
5: 135,665,008 (GRCm39) |
I113N |
probably damaging |
Het |
Saraf |
T |
A |
8: 34,635,767 (GRCm39) |
|
probably null |
Het |
Slc41a2 |
T |
C |
10: 83,137,022 (GRCm39) |
|
probably null |
Het |
Slc47a1 |
A |
G |
11: 61,250,229 (GRCm39) |
V352A |
probably benign |
Het |
Tmem237 |
T |
C |
1: 59,153,375 (GRCm39) |
T49A |
probably benign |
Het |
Tmem273 |
A |
C |
14: 32,528,778 (GRCm39) |
I48L |
probably benign |
Het |
Tmprss11e |
C |
T |
5: 86,863,414 (GRCm39) |
C217Y |
probably damaging |
Het |
Ubfd1 |
T |
C |
7: 121,667,103 (GRCm39) |
V140A |
probably benign |
Het |
Utrn |
A |
G |
10: 12,516,669 (GRCm39) |
|
probably null |
Het |
Utrn |
T |
A |
10: 12,574,844 (GRCm39) |
I1028F |
possibly damaging |
Het |
Virma |
C |
T |
4: 11,539,968 (GRCm39) |
T1479M |
probably damaging |
Het |
Vwa7 |
G |
T |
17: 35,243,867 (GRCm39) |
R767L |
probably benign |
Het |
Wdfy3 |
A |
T |
5: 102,065,297 (GRCm39) |
Y1290* |
probably null |
Het |
Zfp970 |
G |
A |
2: 177,167,338 (GRCm39) |
C304Y |
probably damaging |
Het |
|
Other mutations in Fam135a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00987:Fam135a
|
APN |
1 |
24,094,979 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01993:Fam135a
|
APN |
1 |
24,094,992 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02172:Fam135a
|
APN |
1 |
24,063,861 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02832:Fam135a
|
APN |
1 |
24,067,714 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03075:Fam135a
|
APN |
1 |
24,069,987 (GRCm39) |
splice site |
probably benign |
|
IGL03197:Fam135a
|
APN |
1 |
24,083,263 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03214:Fam135a
|
APN |
1 |
24,092,357 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03355:Fam135a
|
APN |
1 |
24,068,249 (GRCm39) |
missense |
possibly damaging |
0.93 |
PIT4434001:Fam135a
|
UTSW |
1 |
24,068,276 (GRCm39) |
missense |
probably benign |
|
R0276:Fam135a
|
UTSW |
1 |
24,107,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R1429:Fam135a
|
UTSW |
1 |
24,083,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R1553:Fam135a
|
UTSW |
1 |
24,060,951 (GRCm39) |
missense |
probably damaging |
0.97 |
R1582:Fam135a
|
UTSW |
1 |
24,068,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R1686:Fam135a
|
UTSW |
1 |
24,068,887 (GRCm39) |
missense |
probably benign |
0.05 |
R1732:Fam135a
|
UTSW |
1 |
24,065,734 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1859:Fam135a
|
UTSW |
1 |
24,069,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R1954:Fam135a
|
UTSW |
1 |
24,068,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R2266:Fam135a
|
UTSW |
1 |
24,067,878 (GRCm39) |
missense |
probably benign |
0.22 |
R2570:Fam135a
|
UTSW |
1 |
24,061,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R3725:Fam135a
|
UTSW |
1 |
24,096,515 (GRCm39) |
nonsense |
probably null |
|
R3740:Fam135a
|
UTSW |
1 |
24,053,892 (GRCm39) |
missense |
probably damaging |
0.99 |
R3741:Fam135a
|
UTSW |
1 |
24,053,892 (GRCm39) |
missense |
probably damaging |
0.99 |
R3765:Fam135a
|
UTSW |
1 |
24,094,958 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3792:Fam135a
|
UTSW |
1 |
24,067,392 (GRCm39) |
missense |
probably benign |
0.14 |
R3940:Fam135a
|
UTSW |
1 |
24,096,556 (GRCm39) |
missense |
probably damaging |
0.98 |
R3946:Fam135a
|
UTSW |
1 |
24,069,475 (GRCm39) |
missense |
probably damaging |
0.96 |
R4754:Fam135a
|
UTSW |
1 |
24,067,835 (GRCm39) |
nonsense |
probably null |
|
R4794:Fam135a
|
UTSW |
1 |
24,068,241 (GRCm39) |
missense |
probably benign |
0.36 |
R4887:Fam135a
|
UTSW |
1 |
24,063,334 (GRCm39) |
nonsense |
probably null |
|
R4891:Fam135a
|
UTSW |
1 |
24,069,409 (GRCm39) |
missense |
probably benign |
0.00 |
R4929:Fam135a
|
UTSW |
1 |
24,069,081 (GRCm39) |
missense |
probably benign |
0.16 |
R4999:Fam135a
|
UTSW |
1 |
24,059,758 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5092:Fam135a
|
UTSW |
1 |
24,067,888 (GRCm39) |
missense |
probably benign |
0.11 |
R5205:Fam135a
|
UTSW |
1 |
24,068,592 (GRCm39) |
missense |
probably benign |
0.05 |
R5313:Fam135a
|
UTSW |
1 |
24,067,666 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5579:Fam135a
|
UTSW |
1 |
24,068,808 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5689:Fam135a
|
UTSW |
1 |
24,068,134 (GRCm39) |
missense |
probably benign |
0.22 |
R5863:Fam135a
|
UTSW |
1 |
24,053,863 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5869:Fam135a
|
UTSW |
1 |
24,068,511 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6128:Fam135a
|
UTSW |
1 |
24,069,821 (GRCm39) |
critical splice donor site |
probably null |
|
R6505:Fam135a
|
UTSW |
1 |
24,053,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R6668:Fam135a
|
UTSW |
1 |
24,067,929 (GRCm39) |
missense |
probably damaging |
0.99 |
R6857:Fam135a
|
UTSW |
1 |
24,053,870 (GRCm39) |
missense |
probably damaging |
0.99 |
R6931:Fam135a
|
UTSW |
1 |
24,124,568 (GRCm39) |
start codon destroyed |
probably damaging |
1.00 |
R6977:Fam135a
|
UTSW |
1 |
24,093,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R7187:Fam135a
|
UTSW |
1 |
24,083,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R7206:Fam135a
|
UTSW |
1 |
24,069,354 (GRCm39) |
missense |
probably benign |
0.14 |
R7305:Fam135a
|
UTSW |
1 |
24,069,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R7313:Fam135a
|
UTSW |
1 |
24,096,473 (GRCm39) |
missense |
probably damaging |
0.98 |
R7420:Fam135a
|
UTSW |
1 |
24,051,567 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7646:Fam135a
|
UTSW |
1 |
24,067,704 (GRCm39) |
missense |
probably benign |
0.06 |
R7661:Fam135a
|
UTSW |
1 |
24,111,843 (GRCm39) |
splice site |
probably null |
|
R7681:Fam135a
|
UTSW |
1 |
24,106,996 (GRCm39) |
missense |
probably benign |
0.03 |
R7748:Fam135a
|
UTSW |
1 |
24,068,050 (GRCm39) |
missense |
probably benign |
0.00 |
R7845:Fam135a
|
UTSW |
1 |
24,068,738 (GRCm39) |
missense |
probably benign |
0.27 |
R7849:Fam135a
|
UTSW |
1 |
24,083,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R7914:Fam135a
|
UTSW |
1 |
24,065,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R8236:Fam135a
|
UTSW |
1 |
24,059,729 (GRCm39) |
splice site |
probably null |
|
R8314:Fam135a
|
UTSW |
1 |
24,061,002 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8403:Fam135a
|
UTSW |
1 |
24,067,908 (GRCm39) |
missense |
probably benign |
0.21 |
R8416:Fam135a
|
UTSW |
1 |
24,067,675 (GRCm39) |
missense |
probably benign |
0.11 |
R8420:Fam135a
|
UTSW |
1 |
24,067,569 (GRCm39) |
missense |
probably benign |
0.24 |
R8423:Fam135a
|
UTSW |
1 |
24,060,998 (GRCm39) |
missense |
probably damaging |
0.99 |
R8745:Fam135a
|
UTSW |
1 |
24,067,569 (GRCm39) |
missense |
probably benign |
0.24 |
R8754:Fam135a
|
UTSW |
1 |
24,067,569 (GRCm39) |
missense |
probably benign |
0.24 |
R8994:Fam135a
|
UTSW |
1 |
24,067,621 (GRCm39) |
missense |
probably damaging |
1.00 |
X0022:Fam135a
|
UTSW |
1 |
24,069,295 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAAATTAAGCCCGTTTGACTG -3'
(R):5'- GTTCTTCTGTACATGTGCCAAATC -3'
Sequencing Primer
(F):5'- CCCGTTTGACTGATTTCTTAAAAGGG -3'
(R):5'- GTACATGTGCCAAATCTCTCTCTTGG -3'
|
Posted On |
2018-08-29 |