Incidental Mutation 'R4535:Fam178b'
| ID |
333271 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam178b
|
| Ensembl Gene |
ENSMUSG00000046337 |
| Gene Name |
family with sequence similarity 178, member B |
| Synonyms |
LOC381337, 1700024G10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R4535 (G1)
|
| Quality Score |
220 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
36601773-36722264 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36639606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 293
(D293E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114981]
[ENSMUST00000170295]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114981
AA Change: D293E
PolyPhen 2
Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124023
Gene: ENSMUSG00000046337
AA Change: D293E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
44 |
N/A |
INTRINSIC |
|
Pfam:FAM178
|
89 |
371 |
3.4e-115 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161062
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170295
AA Change: D293E
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000132846
Gene: ENSMUSG00000046337
AA Change: D293E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
44 |
N/A |
INTRINSIC |
|
Pfam:FAM178
|
86 |
385 |
1e-130 |
PFAM |
|
low complexity region
|
395 |
410 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194025
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000194839
AA Change: D49E
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195729
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef4 |
T |
C |
1: 34,762,162 (GRCm39) |
S473P |
unknown |
Het |
| Azin1 |
A |
T |
15: 38,493,849 (GRCm39) |
I258N |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,989,574 (GRCm39) |
A383V |
probably benign |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Cd4 |
A |
T |
6: 124,847,414 (GRCm39) |
F250Y |
probably benign |
Het |
| Clcn4 |
T |
A |
7: 7,290,813 (GRCm39) |
Y662F |
probably benign |
Het |
| Cpa2 |
T |
C |
6: 30,552,020 (GRCm39) |
V249A |
probably benign |
Het |
| Depdc5 |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
5: 33,067,751 (GRCm39) |
|
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,582,511 (GRCm39) |
Y365H |
probably damaging |
Het |
| Dsg1c |
A |
G |
18: 20,408,322 (GRCm39) |
E457G |
probably benign |
Het |
| Eef2k |
T |
A |
7: 120,457,822 (GRCm39) |
Y60* |
probably null |
Het |
| Efcc1 |
A |
G |
6: 87,730,133 (GRCm39) |
D482G |
probably null |
Het |
| Exoc4 |
C |
T |
6: 33,254,179 (GRCm39) |
R112C |
probably damaging |
Het |
| Fbxl21 |
G |
A |
13: 56,674,873 (GRCm39) |
V49I |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,667,953 (GRCm39) |
V91A |
probably damaging |
Het |
| H2-M10.4 |
T |
C |
17: 36,772,736 (GRCm39) |
E82G |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,439,531 (GRCm39) |
I5434T |
probably damaging |
Het |
| Hormad1 |
T |
C |
3: 95,492,452 (GRCm39) |
V343A |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,861,303 (GRCm39) |
N450S |
unknown |
Het |
| Iqsec3 |
T |
C |
6: 121,356,977 (GRCm39) |
K1035E |
possibly damaging |
Het |
| Ltn1 |
A |
T |
16: 87,223,174 (GRCm39) |
V102D |
probably damaging |
Het |
| Mcur1 |
T |
C |
13: 43,698,016 (GRCm39) |
T295A |
probably damaging |
Het |
| Pals1 |
A |
T |
12: 78,871,611 (GRCm39) |
D397V |
possibly damaging |
Het |
| Pcdha3 |
T |
C |
18: 37,081,013 (GRCm39) |
V585A |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,602,627 (GRCm39) |
T594A |
probably damaging |
Het |
| Ppp1r3c |
T |
C |
19: 36,711,522 (GRCm39) |
K83E |
probably damaging |
Het |
| Sesn3 |
C |
A |
9: 14,233,954 (GRCm39) |
T309K |
probably benign |
Het |
| Slc38a3 |
T |
C |
9: 107,533,405 (GRCm39) |
N251S |
probably benign |
Het |
| Sptbn4 |
A |
G |
7: 27,067,127 (GRCm39) |
V614A |
probably damaging |
Het |
| Srsf4 |
A |
G |
4: 131,601,175 (GRCm39) |
K34R |
probably damaging |
Het |
| Tfpi2 |
T |
C |
6: 3,968,044 (GRCm39) |
N32S |
possibly damaging |
Het |
| Ttll2 |
A |
T |
17: 7,619,120 (GRCm39) |
I269N |
probably benign |
Het |
| Utp3 |
T |
C |
5: 88,703,458 (GRCm39) |
V329A |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,914,975 (GRCm39) |
T847A |
probably benign |
Het |
| Vmn2r70 |
A |
T |
7: 85,214,541 (GRCm39) |
W204R |
probably damaging |
Het |
| Xrcc3 |
A |
G |
12: 111,770,966 (GRCm39) |
L321P |
probably damaging |
Het |
|
| Other mutations in Fam178b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01070:Fam178b
|
APN |
1 |
36,603,484 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01128:Fam178b
|
APN |
1 |
36,683,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01859:Fam178b
|
APN |
1 |
36,698,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0398:Fam178b
|
UTSW |
1 |
36,671,487 (GRCm39) |
splice site |
probably benign |
|
|
R1116:Fam178b
|
UTSW |
1 |
36,617,669 (GRCm39) |
nonsense |
probably null |
|
|
R1613:Fam178b
|
UTSW |
1 |
36,639,273 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1623:Fam178b
|
UTSW |
1 |
36,683,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2276:Fam178b
|
UTSW |
1 |
36,671,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3706:Fam178b
|
UTSW |
1 |
36,647,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4784:Fam178b
|
UTSW |
1 |
36,671,496 (GRCm39) |
splice site |
probably null |
|
|
R5372:Fam178b
|
UTSW |
1 |
36,603,929 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5431:Fam178b
|
UTSW |
1 |
36,671,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6808:Fam178b
|
UTSW |
1 |
36,639,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7117:Fam178b
|
UTSW |
1 |
36,639,548 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7308:Fam178b
|
UTSW |
1 |
36,698,488 (GRCm39) |
missense |
probably benign |
|
|
R7573:Fam178b
|
UTSW |
1 |
36,671,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7678:Fam178b
|
UTSW |
1 |
36,603,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9786:Fam178b
|
UTSW |
1 |
36,603,517 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCAGAAGCTGTAAGTGATGC -3'
(R):5'- TGAAGTCCACCTATGACTGCC -3'
Sequencing Primer
(F):5'- CAGAAGCTGTAAGTGATGCTCTCC -3'
(R):5'- CCAGTATGGCTAAAGTGGTTCAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation