Incidental Mutation 'R3761:Fam174a'
| ID |
270526 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam174a
|
| Ensembl Gene |
ENSMUSG00000051185 |
| Gene Name |
family with sequence similarity 174, member A |
| Synonyms |
Tmem157, 2310044D20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R3761 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
95241353-95263009 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 95241971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 144
(V144F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059975]
[ENSMUST00000186780]
|
| AlphaFold |
Q9D3L0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059975
AA Change: V144F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057670
Gene: ENSMUSG00000051185
AA Change: V144F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1180
|
10 |
190 |
1.9e-69 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186780
AA Change: V144F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139943
Gene: ENSMUSG00000051185
AA Change: V144F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1180
|
1 |
190 |
5.7e-72 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2cl |
A |
G |
9: 110,727,202 (GRCm39) |
T923A |
probably damaging |
Het |
| Ccdc91 |
A |
T |
6: 147,464,200 (GRCm39) |
D216V |
unknown |
Het |
| Clstn3 |
A |
G |
6: 124,434,835 (GRCm39) |
V360A |
possibly damaging |
Het |
| Ct45a |
C |
T |
X: 55,590,568 (GRCm39) |
V78I |
probably benign |
Het |
| Ehmt2 |
A |
G |
17: 35,132,707 (GRCm39) |
I1235V |
probably damaging |
Het |
| Eif3e |
C |
T |
15: 43,124,480 (GRCm39) |
R346H |
probably damaging |
Het |
| Esrp2 |
T |
C |
8: 106,860,254 (GRCm39) |
D301G |
probably damaging |
Het |
| Fbxo31 |
A |
T |
8: 122,287,169 (GRCm39) |
W135R |
possibly damaging |
Het |
| Heatr5b |
A |
G |
17: 79,137,071 (GRCm39) |
S150P |
probably damaging |
Het |
| Il16 |
A |
G |
7: 83,300,093 (GRCm39) |
L400S |
possibly damaging |
Het |
| Or10d1c |
A |
T |
9: 38,893,662 (GRCm39) |
I226N |
possibly damaging |
Het |
| Ryr3 |
A |
G |
2: 112,585,258 (GRCm39) |
F2776S |
probably benign |
Het |
| Sema3d |
T |
C |
5: 12,621,004 (GRCm39) |
Y537H |
probably damaging |
Het |
| Sh3pxd2b |
T |
C |
11: 32,372,750 (GRCm39) |
V639A |
probably benign |
Het |
| Slc39a10 |
A |
G |
1: 46,851,285 (GRCm39) |
V735A |
possibly damaging |
Het |
| Slc45a2 |
T |
A |
15: 11,012,800 (GRCm39) |
Y268N |
probably benign |
Het |
| Tmco5 |
A |
G |
2: 116,717,787 (GRCm39) |
|
probably null |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,631,085 (GRCm39) |
H649Q |
probably damaging |
Het |
|
| Other mutations in Fam174a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1866:Fam174a
|
UTSW |
1 |
95,241,620 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4492:Fam174a
|
UTSW |
1 |
95,241,701 (GRCm39) |
missense |
probably benign |
|
|
R4716:Fam174a
|
UTSW |
1 |
95,241,770 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5617:Fam174a
|
UTSW |
1 |
95,241,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5851:Fam174a
|
UTSW |
1 |
95,252,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5893:Fam174a
|
UTSW |
1 |
95,252,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6230:Fam174a
|
UTSW |
1 |
95,241,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7053:Fam174a
|
UTSW |
1 |
95,252,953 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8994:Fam174a
|
UTSW |
1 |
95,241,689 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGCCGCAATGACAGCATC -3'
(R):5'- GAAAGGCAACAGCTTGTGTC -3'
Sequencing Primer
(F):5'- AATGACAGCATCCCCGGG -3'
(R):5'- AGCTTGTGTCACCAGCTAAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation