Incidental Mutation 'R5313:Fam135a'
| ID |
405676 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam135a
|
| Ensembl Gene |
ENSMUSG00000026153 |
| Gene Name |
family with sequence similarity 135, member A |
| Synonyms |
4921533L14Rik |
| MMRRC Submission |
042896-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R5313 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
24050174-24139422 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24067666 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 168
(I168V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140947
(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: I1068V
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000027337
Gene: ENSMUSG00000026153
AA Change: I1068V
| 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 |
possibly damaging
Transcript: ENSMUST00000186331
AA Change: I168V
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140947
Gene: ENSMUSG00000026153
AA Change: I168V
| 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 benign
Transcript: ENSMUST00000187369
AA Change: I872V
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000140766
Gene: ENSMUSG00000026153
AA Change: I872V
| 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: I855V
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000139633
Gene: ENSMUSG00000026153
AA Change: I855V
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
T |
C |
11: 46,022,603 (GRCm39) |
C519R |
probably damaging |
Het |
| Adgra3 |
A |
T |
5: 50,118,651 (GRCm39) |
S966T |
probably benign |
Het |
| Adgrl2 |
A |
G |
3: 148,529,349 (GRCm39) |
Y1115H |
probably damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,874,516 (GRCm39) |
I938F |
probably damaging |
Het |
| Arhgef17 |
A |
C |
7: 100,578,131 (GRCm39) |
L939W |
probably damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,501,629 (GRCm39) |
|
probably null |
Het |
| Armh3 |
G |
A |
19: 45,807,414 (GRCm39) |
R661W |
probably damaging |
Het |
| Cacna1d |
A |
C |
14: 30,068,798 (GRCm39) |
I147S |
probably benign |
Het |
| Cdc42bpa |
T |
G |
1: 179,911,998 (GRCm39) |
D525E |
probably benign |
Het |
| Cdh6 |
T |
A |
15: 13,034,723 (GRCm39) |
I646F |
probably damaging |
Het |
| Col6a5 |
T |
G |
9: 105,822,743 (GRCm39) |
I205L |
unknown |
Het |
| Cpox |
T |
A |
16: 58,498,311 (GRCm39) |
Y381* |
probably null |
Het |
| Ctsc |
T |
C |
7: 87,958,761 (GRCm39) |
V347A |
probably damaging |
Het |
| Dnaaf9 |
C |
T |
2: 130,551,188 (GRCm39) |
E1027K |
probably damaging |
Het |
| Ephb6 |
A |
T |
6: 41,593,727 (GRCm39) |
T537S |
possibly damaging |
Het |
| Fam234b |
T |
A |
6: 135,186,185 (GRCm39) |
D64E |
possibly damaging |
Het |
| Fgfr2 |
A |
T |
7: 129,842,970 (GRCm39) |
D157E |
probably benign |
Het |
| Fstl5 |
A |
T |
3: 76,500,812 (GRCm39) |
I414F |
possibly damaging |
Het |
| Glp2r |
T |
C |
11: 67,648,357 (GRCm39) |
D115G |
probably damaging |
Het |
| Gpr85 |
A |
T |
6: 13,836,301 (GRCm39) |
V201D |
probably damaging |
Het |
| Ido1 |
A |
C |
8: 25,077,794 (GRCm39) |
I91S |
probably damaging |
Het |
| Ism2 |
G |
A |
12: 87,326,536 (GRCm39) |
P468S |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,464,538 (GRCm39) |
K1643E |
probably damaging |
Het |
| Or10ak8 |
A |
G |
4: 118,773,995 (GRCm39) |
V223A |
probably benign |
Het |
| Or4c122 |
C |
T |
2: 89,079,721 (GRCm39) |
E106K |
probably benign |
Het |
| Or5b112 |
G |
A |
19: 13,319,429 (GRCm39) |
M102I |
probably benign |
Het |
| Or6c2 |
C |
T |
10: 129,362,950 (GRCm39) |
P285S |
probably damaging |
Het |
| Ppargc1a |
A |
G |
5: 51,615,581 (GRCm39) |
|
probably benign |
Het |
| Prpf4b |
T |
C |
13: 35,078,532 (GRCm39) |
V714A |
probably damaging |
Het |
| Septin8 |
C |
T |
11: 53,426,809 (GRCm39) |
T190I |
probably damaging |
Het |
| Slc18a2 |
A |
G |
19: 59,282,275 (GRCm39) |
K494R |
probably benign |
Het |
| Slc34a2 |
A |
T |
5: 53,226,681 (GRCm39) |
K542N |
probably damaging |
Het |
| Snd1 |
C |
A |
6: 28,668,600 (GRCm39) |
T429K |
probably benign |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Timm10b |
T |
C |
7: 105,290,287 (GRCm39) |
L60P |
probably damaging |
Het |
| Tmprss11a |
A |
T |
5: 86,559,674 (GRCm39) |
Y373N |
probably damaging |
Het |
| Usp17la |
T |
A |
7: 104,510,457 (GRCm39) |
V354D |
probably benign |
Het |
| Zbtb7b |
G |
T |
3: 89,288,626 (GRCm39) |
T64K |
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 |
|
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'- ACACCAGCACTCAGATAGTTG -3'
(R):5'- GCGGTGAGCCATTAAATCAC -3'
Sequencing Primer
(F):5'- CAGCACTCAGATAGTTGCTGCTTAG -3'
(R):5'- GTGAGCCATTAAATCACAAACAAGTG -3'
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| Posted On |
2016-07-22 |
Incidental Mutation