Incidental Mutation 'R5205:Fam135a'
| ID |
398391 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam135a
|
| Ensembl Gene |
ENSMUSG00000026153 |
| Gene Name |
family with sequence similarity 135, member A |
| Synonyms |
4921533L14Rik |
| MMRRC Submission |
042780-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R5205 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
24050174-24139422 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24068592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 589
(N589S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027337]
[ENSMUST00000185807]
[ENSMUST00000186331]
[ENSMUST00000186999]
[ENSMUST00000187369]
[ENSMUST00000187752]
[ENSMUST00000188712]
|
| AlphaFold |
Q6NS59 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027337
AA Change: N759S
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000027337
Gene: ENSMUSG00000026153
AA Change: N759S
| 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 benign
Transcript: ENSMUST00000186331
|
| SMART Domains |
Protein: ENSMUSP00000140947
Gene: ENSMUSG00000026153
| 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
AA Change: N589S
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000140198
Gene: ENSMUSG00000026153
AA Change: N589S
| 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 benign
Transcript: ENSMUST00000187369
AA Change: N563S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000140766
Gene: ENSMUSG00000026153
AA Change: N563S
| 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 benign
Transcript: ENSMUST00000187752
AA Change: N546S
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000139633
Gene: ENSMUSG00000026153
AA Change: N546S
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
G |
A |
18: 59,101,880 (GRCm39) |
R650Q |
probably damaging |
Het |
| Adgre4 |
G |
T |
17: 56,101,727 (GRCm39) |
E216* |
probably null |
Het |
| Aldh6a1 |
T |
A |
12: 84,486,418 (GRCm39) |
M167L |
probably damaging |
Het |
| Asb16 |
G |
A |
11: 102,159,820 (GRCm39) |
D58N |
probably damaging |
Het |
| Cfap43 |
C |
A |
19: 47,885,987 (GRCm39) |
L209F |
possibly damaging |
Het |
| Cfh |
A |
G |
1: 140,071,708 (GRCm39) |
C327R |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,752,509 (GRCm39) |
N335K |
possibly damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,452,545 (GRCm39) |
E646G |
possibly damaging |
Het |
| Col6a6 |
A |
T |
9: 105,659,232 (GRCm39) |
V571D |
probably damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,427,432 (GRCm39) |
|
probably benign |
Het |
| Dennd1b |
T |
A |
1: 138,982,306 (GRCm39) |
S132T |
probably benign |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dnaaf2 |
C |
T |
12: 69,239,698 (GRCm39) |
V608I |
probably damaging |
Het |
| Edem3 |
A |
T |
1: 151,687,270 (GRCm39) |
D717V |
probably damaging |
Het |
| Gm13991 |
G |
C |
2: 116,358,681 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv2-3 |
T |
C |
12: 113,574,895 (GRCm39) |
S87G |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kcna2 |
T |
C |
3: 107,004,462 (GRCm39) |
|
probably benign |
Het |
| Klra4 |
T |
A |
6: 130,039,080 (GRCm39) |
N104I |
probably damaging |
Het |
| Lrrc28 |
A |
G |
7: 67,181,516 (GRCm39) |
S240P |
probably benign |
Het |
| Majin |
T |
C |
19: 6,245,789 (GRCm39) |
I27T |
possibly damaging |
Het |
| Mfhas1 |
G |
A |
8: 36,058,161 (GRCm39) |
E879K |
probably benign |
Het |
| Mif-ps6 |
A |
T |
9: 14,756,768 (GRCm39) |
|
noncoding transcript |
Het |
| Msh4 |
A |
G |
3: 153,572,049 (GRCm39) |
L583P |
probably damaging |
Het |
| Nrxn1 |
A |
T |
17: 90,471,302 (GRCm39) |
N1234K |
probably damaging |
Het |
| Or5b120 |
T |
C |
19: 13,480,163 (GRCm39) |
L152P |
probably damaging |
Het |
| Orm1 |
T |
C |
4: 63,262,929 (GRCm39) |
I32T |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Plppr2 |
A |
T |
9: 21,852,370 (GRCm39) |
T85S |
probably damaging |
Het |
| Ppp1r9b |
T |
A |
11: 94,892,124 (GRCm39) |
W604R |
probably benign |
Het |
| Prorp |
T |
A |
12: 55,351,226 (GRCm39) |
Y178* |
probably null |
Het |
| Prss56 |
G |
T |
1: 87,113,256 (GRCm39) |
D195Y |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,782,666 (GRCm39) |
|
probably benign |
Het |
| Rbm25 |
T |
A |
12: 83,719,643 (GRCm39) |
D554E |
probably benign |
Het |
| Rbm6 |
A |
G |
9: 107,665,542 (GRCm39) |
M618T |
probably benign |
Het |
| Slc17a5 |
A |
G |
9: 78,485,899 (GRCm39) |
V62A |
probably damaging |
Het |
| Slk |
T |
A |
19: 47,613,899 (GRCm39) |
N918K |
possibly damaging |
Het |
| Syne1 |
C |
A |
10: 5,002,295 (GRCm39) |
A8126S |
probably benign |
Het |
| Synj2 |
T |
C |
17: 5,991,793 (GRCm39) |
L23S |
probably damaging |
Het |
| Taar2 |
A |
C |
10: 23,816,874 (GRCm39) |
H138P |
probably benign |
Het |
| Taar7b |
A |
T |
10: 23,875,916 (GRCm39) |
E27V |
probably benign |
Het |
| Tbc1d2b |
A |
G |
9: 90,089,863 (GRCm39) |
Y889H |
probably damaging |
Het |
| Tmem43 |
T |
C |
6: 91,463,763 (GRCm39) |
I346T |
possibly damaging |
Het |
| Ttc3 |
T |
A |
16: 94,248,918 (GRCm39) |
C1139S |
probably benign |
Het |
| Txndc11 |
A |
G |
16: 10,946,529 (GRCm39) |
V94A |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,607,133 (GRCm39) |
H4009Q |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,155,964 (GRCm39) |
E407G |
possibly damaging |
Het |
| Ybx1 |
G |
T |
4: 119,136,348 (GRCm39) |
D261E |
probably damaging |
Het |
| Zfp985 |
A |
T |
4: 147,667,368 (GRCm39) |
I79F |
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 |
|
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 |
|
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'- TTGTGCTCTCAGTGCAATGAC -3'
(R):5'- GATTTTGAGGCCTTAGACTCTAATG -3'
Sequencing Primer
(F):5'- CTCAGTGCAATGACTTCCTAATG -3'
(R):5'- GAGGCCTTAGACTCTAATGATAAACC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation