Incidental Mutation 'R6931:Fam135a'
ID |
539981 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam135a
|
Ensembl Gene |
ENSMUSG00000026153 |
Gene Name |
family with sequence similarity 135, member A |
Synonyms |
4921533L14Rik |
MMRRC Submission |
045326-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R6931 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
24050174-24139422 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to A
at 24124568 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140198
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027337]
[ENSMUST00000186999]
[ENSMUST00000187369]
[ENSMUST00000187752]
[ENSMUST00000188712]
|
AlphaFold |
Q6NS59 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027337
AA Change: M1L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000027337 Gene: ENSMUSG00000026153 AA Change: M1L
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 |
probably damaging
Transcript: ENSMUST00000186999
AA Change: M1L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000140198 Gene: ENSMUSG00000026153 AA Change: M1L
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: M1L
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000140766 Gene: ENSMUSG00000026153 AA Change: M1L
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 |
possibly damaging
Transcript: ENSMUST00000187752
AA Change: M1L
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000139633 Gene: ENSMUSG00000026153 AA Change: M1L
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: M1L
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
Meta Mutation Damage Score |
0.5454 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
99% (77/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
T |
A |
5: 88,118,561 (GRCm39) |
I15N |
probably damaging |
Het |
2900092C05Rik |
T |
A |
7: 12,246,523 (GRCm39) |
S6R |
unknown |
Het |
Abca6 |
T |
A |
11: 110,135,154 (GRCm39) |
L210F |
probably benign |
Het |
Abcc4 |
T |
C |
14: 118,765,400 (GRCm39) |
Q919R |
probably damaging |
Het |
Adcy1 |
A |
G |
11: 7,100,884 (GRCm39) |
D811G |
possibly damaging |
Het |
Akna |
A |
G |
4: 63,305,339 (GRCm39) |
S476P |
probably benign |
Het |
Ankrd49 |
T |
C |
9: 14,694,122 (GRCm39) |
N15S |
probably benign |
Het |
Apcdd1 |
A |
G |
18: 63,066,979 (GRCm39) |
D31G |
probably damaging |
Het |
Aplp1 |
G |
T |
7: 30,142,625 (GRCm39) |
R106S |
probably damaging |
Het |
Arhgap40 |
T |
C |
2: 158,373,138 (GRCm39) |
L132S |
probably benign |
Het |
Atp8b5 |
G |
T |
4: 43,364,108 (GRCm39) |
|
probably null |
Het |
Axl |
T |
C |
7: 25,460,858 (GRCm39) |
D717G |
probably damaging |
Het |
Bub1 |
T |
A |
2: 127,643,302 (GRCm39) |
D1014V |
probably damaging |
Het |
Cacna2d4 |
T |
A |
6: 119,259,195 (GRCm39) |
V603E |
possibly damaging |
Het |
Cnot11 |
G |
C |
1: 39,579,002 (GRCm39) |
C289S |
probably damaging |
Het |
Coasy |
A |
G |
11: 100,974,407 (GRCm39) |
H191R |
probably benign |
Het |
Cyp11a1 |
A |
T |
9: 57,932,403 (GRCm39) |
N341Y |
possibly damaging |
Het |
Cyp1a2 |
T |
C |
9: 57,589,439 (GRCm39) |
N125S |
probably benign |
Het |
Cyp2j8 |
A |
T |
4: 96,333,018 (GRCm39) |
|
probably null |
Het |
Dnah9 |
A |
T |
11: 66,008,452 (GRCm39) |
I791K |
possibly damaging |
Het |
Ecm2 |
A |
T |
13: 49,682,487 (GRCm39) |
Q505H |
probably benign |
Het |
Fam171a2 |
A |
G |
11: 102,329,260 (GRCm39) |
S500P |
possibly damaging |
Het |
Fat3 |
A |
G |
9: 15,871,238 (GRCm39) |
S3718P |
possibly damaging |
Het |
Frem1 |
G |
A |
4: 82,888,914 (GRCm39) |
P1085S |
probably damaging |
Het |
Gcfc2 |
A |
G |
6: 81,919,966 (GRCm39) |
I390V |
probably benign |
Het |
Gemin4 |
A |
G |
11: 76,101,782 (GRCm39) |
L993P |
probably damaging |
Het |
Ggnbp2 |
T |
A |
11: 84,723,993 (GRCm39) |
D647V |
probably damaging |
Het |
Gpr84 |
A |
C |
15: 103,217,441 (GRCm39) |
L212R |
probably damaging |
Het |
Hnrnpu |
T |
C |
1: 178,158,997 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
G |
T |
4: 137,268,031 (GRCm39) |
C2116F |
probably damaging |
Het |
Icam4 |
T |
A |
9: 20,941,747 (GRCm39) |
V249E |
probably damaging |
Het |
Itga1 |
T |
C |
13: 115,138,099 (GRCm39) |
N429D |
probably benign |
Het |
Kcns1 |
T |
C |
2: 164,006,758 (GRCm39) |
T402A |
probably damaging |
Het |
Ky |
T |
A |
9: 102,414,826 (GRCm39) |
V246E |
probably damaging |
Het |
Marchf1 |
A |
G |
8: 66,921,144 (GRCm39) |
T529A |
probably benign |
Het |
Med18 |
C |
G |
4: 132,187,194 (GRCm39) |
V102L |
probably damaging |
Het |
Mlst8 |
T |
C |
17: 24,696,249 (GRCm39) |
D160G |
probably damaging |
Het |
Mthfd1 |
T |
C |
12: 76,350,472 (GRCm39) |
I470T |
probably benign |
Het |
Muc1 |
C |
T |
3: 89,136,466 (GRCm39) |
|
probably benign |
Het |
Mup8 |
G |
A |
4: 60,220,322 (GRCm39) |
L137F |
probably damaging |
Het |
Mybpc1 |
A |
T |
10: 88,378,192 (GRCm39) |
L341* |
probably null |
Het |
Nacad |
A |
G |
11: 6,551,877 (GRCm39) |
F438S |
probably benign |
Het |
Necap2 |
C |
A |
4: 140,805,523 (GRCm39) |
|
probably null |
Het |
Nifk |
T |
C |
1: 118,260,078 (GRCm39) |
L163S |
possibly damaging |
Het |
Npsr1 |
A |
G |
9: 24,201,293 (GRCm39) |
I73V |
probably benign |
Het |
Nup50l |
T |
C |
6: 96,142,529 (GRCm39) |
T172A |
possibly damaging |
Het |
Oog3 |
C |
T |
4: 143,885,923 (GRCm39) |
C225Y |
probably benign |
Het |
Or2d2 |
A |
G |
7: 106,728,108 (GRCm39) |
L164P |
probably damaging |
Het |
Or4b13 |
A |
T |
2: 90,083,121 (GRCm39) |
C70* |
probably null |
Het |
Or4c100 |
T |
A |
2: 88,356,538 (GRCm39) |
C204S |
possibly damaging |
Het |
Or4p18 |
G |
A |
2: 88,232,408 (GRCm39) |
T290I |
probably benign |
Het |
Plagl2 |
C |
A |
2: 153,077,863 (GRCm39) |
K39N |
probably benign |
Het |
Plcg2 |
T |
A |
8: 118,284,058 (GRCm39) |
D118E |
probably benign |
Het |
Ppp4r3b |
A |
T |
11: 29,161,786 (GRCm39) |
K720I |
possibly damaging |
Het |
Prmt3 |
A |
T |
7: 49,478,764 (GRCm39) |
T442S |
probably benign |
Het |
Prr14l |
G |
A |
5: 32,988,035 (GRCm39) |
H487Y |
probably damaging |
Het |
Psmb3 |
G |
A |
11: 97,594,797 (GRCm39) |
V63I |
probably benign |
Het |
Psmc6 |
T |
A |
14: 45,581,182 (GRCm39) |
I326K |
possibly damaging |
Het |
Ptcd1 |
T |
C |
5: 145,091,885 (GRCm39) |
T405A |
probably benign |
Het |
Rbm33 |
G |
A |
5: 28,615,743 (GRCm39) |
V29M |
probably damaging |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Scarb1 |
T |
A |
5: 125,361,783 (GRCm39) |
I107F |
probably damaging |
Het |
Slc39a12 |
A |
G |
2: 14,394,186 (GRCm39) |
S19G |
probably benign |
Het |
Slc44a5 |
T |
C |
3: 153,964,143 (GRCm39) |
V503A |
probably benign |
Het |
Slc9a9 |
T |
C |
9: 94,552,139 (GRCm39) |
S9P |
possibly damaging |
Het |
Snrnp35 |
A |
C |
5: 124,628,764 (GRCm39) |
R192S |
possibly damaging |
Het |
Tbx15 |
T |
C |
3: 99,259,467 (GRCm39) |
L446P |
probably damaging |
Het |
Tlnrd1 |
A |
G |
7: 83,531,805 (GRCm39) |
F209L |
probably benign |
Het |
Tmprss12 |
C |
T |
15: 100,183,149 (GRCm39) |
R164C |
probably damaging |
Het |
Tnfsf4 |
T |
A |
1: 161,244,644 (GRCm39) |
F111Y |
possibly damaging |
Het |
Trib2 |
A |
T |
12: 15,843,640 (GRCm39) |
M198K |
probably benign |
Het |
Ttll8 |
A |
G |
15: 88,798,507 (GRCm39) |
S743P |
possibly damaging |
Het |
Ush2a |
A |
T |
1: 188,460,580 (GRCm39) |
N2614Y |
probably benign |
Het |
Usp6nl |
G |
A |
2: 6,435,269 (GRCm39) |
V343I |
possibly damaging |
Het |
Vrtn |
C |
A |
12: 84,697,016 (GRCm39) |
Q589K |
probably benign |
Het |
Zbed5 |
T |
A |
5: 129,932,170 (GRCm39) |
Y706* |
probably null |
Het |
Zc3h10 |
A |
G |
10: 128,380,553 (GRCm39) |
V268A |
probably damaging |
Het |
Zfp442 |
C |
T |
2: 150,252,860 (GRCm39) |
|
probably null |
Het |
Zpld2 |
A |
T |
4: 133,920,464 (GRCm39) |
M567K |
probably benign |
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 |
R6793:Fam135a
|
UTSW |
1 |
24,107,006 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6857:Fam135a
|
UTSW |
1 |
24,053,870 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- CACTAAACCTATGTGCATAATCTCC -3'
(R):5'- CATGGGTTATCATATGGATGGCATAG -3'
Sequencing Primer
(F):5'- TGTGCATAATCTCCAAATATCTAGC -3'
(R):5'- TTATCATATGGATGGCATAGGGGAAG -3'
|
Posted On |
2018-11-06 |