Incidental Mutation 'R8994:Fam135a'
| ID |
684574 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam135a
|
| Ensembl Gene |
ENSMUSG00000026153 |
| Gene Name |
family with sequence similarity 135, member A |
| Synonyms |
4921533L14Rik |
| MMRRC Submission |
068825-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R8994 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
24050174-24139422 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 24067621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 1083
(D1083N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027337]
[ENSMUST00000185807]
[ENSMUST00000186331]
[ENSMUST00000186999]
[ENSMUST00000187369]
[ENSMUST00000187752]
[ENSMUST00000188712]
|
| AlphaFold |
Q6NS59 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027337
AA Change: D1083N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027337
Gene: ENSMUSG00000026153
AA Change: D1083N
| 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 benign
Transcript: ENSMUST00000185807
|
| SMART Domains |
Protein: ENSMUSP00000140078
Gene: ENSMUSG00000026153
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:LRRNT
|
27 |
60 |
4e-7 |
BLAST |
|
low complexity region
|
61 |
72 |
N/A |
INTRINSIC |
|
Pfam:DUF676
|
104 |
161 |
2.2e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186331
AA Change: D183N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140947
Gene: ENSMUSG00000026153
AA Change: D183N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
172 |
185 |
N/A |
INTRINSIC |
|
Blast:LRRNT
|
239 |
272 |
1e-6 |
BLAST |
|
low complexity region
|
273 |
284 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186999
|
| SMART Domains |
Protein: ENSMUSP00000140198
Gene: ENSMUSG00000026153
| 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 |
probably damaging
Transcript: ENSMUST00000187369
AA Change: D887N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140766
Gene: ENSMUSG00000026153
AA Change: D887N
| 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: ENSMUST00000187619
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187752
AA Change: D870N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139633
Gene: ENSMUSG00000026153
AA Change: D870N
| 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 |
probably benign
Transcript: ENSMUST00000188712
|
| Meta Mutation Damage Score |
0.1810 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.1%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
T |
A |
14: 118,771,556 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
GTT |
GT |
13: 81,553,457 (GRCm39) |
|
probably null |
Het |
| Ank2 |
A |
T |
3: 126,723,471 (GRCm39) |
M952K |
probably benign |
Het |
| Ccser2 |
A |
T |
14: 36,662,076 (GRCm39) |
N369K |
probably benign |
Het |
| Cd300e |
A |
T |
11: 114,946,348 (GRCm39) |
Y38N |
probably damaging |
Het |
| Crat |
G |
T |
2: 30,297,887 (GRCm39) |
F212L |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 31,009,807 (GRCm39) |
S3733T |
probably benign |
Het |
| Fam174a |
C |
A |
1: 95,241,689 (GRCm39) |
P50T |
possibly damaging |
Het |
| Fars2 |
T |
A |
13: 36,388,849 (GRCm39) |
Y113N |
probably damaging |
Het |
| Fpr3 |
T |
C |
17: 18,191,341 (GRCm39) |
I204T |
possibly damaging |
Het |
| Frmd3 |
T |
C |
4: 74,088,985 (GRCm39) |
V394A |
probably benign |
Het |
| Garin5a |
G |
T |
7: 44,146,342 (GRCm39) |
R16L |
probably benign |
Het |
| Gpbp1 |
C |
A |
13: 111,603,384 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
T |
A |
5: 121,441,629 (GRCm39) |
F1197Y |
probably benign |
Het |
| Herc3 |
A |
G |
6: 58,851,328 (GRCm39) |
T526A |
probably benign |
Het |
| Hnrnpul2 |
T |
C |
19: 8,802,350 (GRCm39) |
C406R |
probably damaging |
Het |
| Hsd17b3 |
T |
C |
13: 64,210,695 (GRCm39) |
Q220R |
probably damaging |
Het |
| Igf2r |
T |
A |
17: 12,935,537 (GRCm39) |
Y651F |
possibly damaging |
Het |
| Kcng1 |
C |
T |
2: 168,110,768 (GRCm39) |
R132Q |
probably benign |
Het |
| Kif1a |
G |
A |
1: 92,983,457 (GRCm39) |
S680F |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,279,939 (GRCm39) |
D27G |
|
Het |
| Klk12 |
A |
T |
7: 43,421,485 (GRCm39) |
T180S |
probably damaging |
Het |
| Klk1b27 |
A |
G |
7: 43,705,136 (GRCm39) |
H101R |
probably damaging |
Het |
| Lrp6 |
C |
A |
6: 134,518,656 (GRCm39) |
E136D |
probably benign |
Het |
| Mcm9 |
T |
C |
10: 53,424,620 (GRCm39) |
I657V |
probably benign |
Het |
| Med13l |
A |
C |
5: 118,866,226 (GRCm39) |
K427Q |
possibly damaging |
Het |
| Nol10 |
A |
T |
12: 17,402,717 (GRCm39) |
D63V |
probably damaging |
Het |
| Nudcd2 |
A |
G |
11: 40,624,862 (GRCm39) |
T24A |
probably damaging |
Het |
| Nup155 |
T |
C |
15: 8,172,645 (GRCm39) |
|
probably null |
Het |
| Or10al7 |
T |
C |
17: 38,366,220 (GRCm39) |
Y79C |
possibly damaging |
Het |
| Or10p1 |
A |
T |
10: 129,444,005 (GRCm39) |
L115H |
probably damaging |
Het |
| Or51af1 |
A |
T |
7: 103,141,800 (GRCm39) |
M95K |
probably benign |
Het |
| Or5p81 |
G |
A |
7: 108,267,169 (GRCm39) |
C182Y |
probably damaging |
Het |
| Or8c19-ps1 |
A |
T |
9: 38,220,581 (GRCm39) |
*163Y |
probably null |
Het |
| Piezo1 |
T |
C |
8: 123,209,829 (GRCm39) |
D2314G |
unknown |
Het |
| Pkhd1l1 |
T |
C |
15: 44,410,499 (GRCm39) |
F2669L |
probably damaging |
Het |
| Plpp4 |
A |
G |
7: 128,981,157 (GRCm39) |
R178G |
probably damaging |
Het |
| Ppp1r13l |
G |
T |
7: 19,102,695 (GRCm39) |
A37S |
possibly damaging |
Het |
| Prl6a1 |
A |
G |
13: 27,499,417 (GRCm39) |
T62A |
probably benign |
Het |
| Ranbp2 |
C |
A |
10: 58,315,891 (GRCm39) |
Q2204K |
possibly damaging |
Het |
| Rbm48 |
T |
A |
5: 3,640,795 (GRCm39) |
M195L |
probably benign |
Het |
| Rigi |
C |
A |
4: 40,205,941 (GRCm39) |
E884* |
probably null |
Het |
| Shank3 |
T |
A |
15: 89,417,416 (GRCm39) |
F4L |
probably benign |
Het |
| Slain2 |
T |
A |
5: 73,114,984 (GRCm39) |
V405D |
probably damaging |
Het |
| Slitrk5 |
A |
C |
14: 111,918,227 (GRCm39) |
D617A |
probably benign |
Het |
| Sp140 |
T |
A |
1: 85,549,603 (GRCm39) |
|
probably null |
Het |
| Stk32a |
A |
G |
18: 43,443,542 (GRCm39) |
T240A |
probably benign |
Het |
| Timm21 |
T |
C |
18: 84,969,489 (GRCm39) |
|
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,854,538 (GRCm39) |
S904G |
probably benign |
Het |
| Tmem86b |
A |
G |
7: 4,632,706 (GRCm39) |
C53R |
unknown |
Het |
| Wdr33 |
T |
C |
18: 31,960,459 (GRCm39) |
L41P |
probably benign |
Het |
| Zfp112 |
A |
C |
7: 23,825,490 (GRCm39) |
H490P |
probably benign |
Het |
| Zfp455 |
T |
C |
13: 67,355,478 (GRCm39) |
Y184H |
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 |
|
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 |
|
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 |
|
X0022:Fam135a
|
UTSW |
1 |
24,069,295 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAACACAAGGAGACTCTCGCAG -3'
(R):5'- GACCCTCTTTCCAGCAGTAC -3'
Sequencing Primer
(F):5'- GAAGGACAAACAACCAGATGTAC -3'
(R):5'- TACTGATGTGGTAAAACAAGGGCTG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation