Incidental Mutation 'R1127:Fam110b'
ID |
96274 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam110b
|
Ensembl Gene |
ENSMUSG00000049119 |
Gene Name |
family with sequence similarity 110, member B |
Synonyms |
1700012H17Rik |
MMRRC Submission |
039200-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.151)
|
Stock # |
R1127 (G1)
|
Quality Score |
175 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
5644009-5801101 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 5799434 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 284
(L284Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127942
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054857]
[ENSMUST00000108380]
[ENSMUST00000171403]
[ENSMUST00000156582]
|
AlphaFold |
Q8C739 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054857
AA Change: L284Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000062734 Gene: ENSMUSG00000049119 AA Change: L284Q
Domain | Start | End | E-Value | Type |
Pfam:FAM110_N
|
11 |
118 |
1.6e-56 |
PFAM |
low complexity region
|
127 |
141 |
N/A |
INTRINSIC |
low complexity region
|
215 |
233 |
N/A |
INTRINSIC |
Pfam:FAM110_C
|
247 |
358 |
2.2e-50 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108380
AA Change: L284Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104017 Gene: ENSMUSG00000049119 AA Change: L284Q
Domain | Start | End | E-Value | Type |
Pfam:FAM110_N
|
13 |
118 |
4.8e-50 |
PFAM |
low complexity region
|
127 |
141 |
N/A |
INTRINSIC |
low complexity region
|
215 |
233 |
N/A |
INTRINSIC |
Pfam:FAM110_C
|
249 |
357 |
1.5e-34 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124256
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126564
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141479
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145365
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171403
AA Change: L284Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127942 Gene: ENSMUSG00000049119 AA Change: L284Q
Domain | Start | End | E-Value | Type |
Pfam:FAM110_N
|
11 |
118 |
1.6e-56 |
PFAM |
low complexity region
|
127 |
141 |
N/A |
INTRINSIC |
low complexity region
|
215 |
233 |
N/A |
INTRINSIC |
Pfam:FAM110_C
|
247 |
358 |
2.2e-50 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156582
|
SMART Domains |
Protein: ENSMUSP00000122351 Gene: ENSMUSG00000049119
Domain | Start | End | E-Value | Type |
Pfam:FAM110_N
|
11 |
87 |
4e-45 |
PFAM |
|
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.1%
- 20x: 80.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700088E04Rik |
T |
C |
15: 79,019,403 (GRCm39) |
D179G |
probably benign |
Het |
Aadacl2fm2 |
G |
A |
3: 59,659,314 (GRCm39) |
E256K |
probably benign |
Het |
Adh7 |
C |
T |
3: 137,927,490 (GRCm39) |
A12V |
probably benign |
Het |
Ankhd1 |
T |
A |
18: 36,767,399 (GRCm39) |
N1179K |
probably damaging |
Het |
Ankrd50 |
T |
C |
3: 38,511,336 (GRCm39) |
T344A |
probably benign |
Het |
Aplf |
T |
C |
6: 87,623,273 (GRCm39) |
T269A |
probably benign |
Het |
Cavin4 |
T |
C |
4: 48,663,637 (GRCm39) |
S6P |
probably damaging |
Het |
Ces2g |
T |
C |
8: 105,694,094 (GRCm39) |
|
probably null |
Het |
Cyp2c66 |
A |
T |
19: 39,151,812 (GRCm39) |
N176Y |
probably damaging |
Het |
Dnah3 |
T |
A |
7: 119,522,253 (GRCm39) |
D3980V |
probably damaging |
Het |
Drc7 |
G |
T |
8: 95,799,416 (GRCm39) |
E530D |
probably damaging |
Het |
Dst |
A |
G |
1: 34,314,358 (GRCm39) |
T6434A |
probably damaging |
Het |
Dtx3l |
A |
G |
16: 35,759,127 (GRCm39) |
S41P |
possibly damaging |
Het |
Eef1b2 |
G |
A |
1: 63,218,616 (GRCm39) |
|
probably null |
Het |
Eml3 |
C |
T |
19: 8,913,672 (GRCm39) |
T43I |
probably damaging |
Het |
Gpr33 |
A |
C |
12: 52,070,252 (GRCm39) |
H262Q |
probably damaging |
Het |
Igfals |
T |
G |
17: 25,099,455 (GRCm39) |
L182R |
probably damaging |
Het |
Lamc1 |
A |
G |
1: 153,126,205 (GRCm39) |
F496L |
possibly damaging |
Het |
Muc4 |
T |
A |
16: 32,569,343 (GRCm39) |
H134Q |
possibly damaging |
Het |
Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
Nxn |
A |
T |
11: 76,164,895 (GRCm39) |
C205* |
probably null |
Het |
Oga |
G |
A |
19: 45,740,594 (GRCm39) |
R914* |
probably null |
Het |
Or11l3 |
T |
C |
11: 58,516,284 (GRCm39) |
E196G |
probably damaging |
Het |
Or52h9 |
C |
A |
7: 104,202,293 (GRCm39) |
H56N |
possibly damaging |
Het |
Pamr1 |
A |
T |
2: 102,469,698 (GRCm39) |
I415F |
possibly damaging |
Het |
Ppp4r4 |
G |
A |
12: 103,545,327 (GRCm39) |
G200E |
probably damaging |
Het |
Pramel29 |
G |
A |
4: 143,933,694 (GRCm39) |
T471I |
probably damaging |
Het |
Prdm16 |
C |
A |
4: 154,613,256 (GRCm39) |
S57I |
probably damaging |
Het |
Psmd11 |
A |
G |
11: 80,362,410 (GRCm39) |
K157R |
possibly damaging |
Het |
Ptprn2 |
G |
A |
12: 117,175,628 (GRCm39) |
|
probably null |
Het |
Pus7 |
G |
A |
5: 23,973,793 (GRCm39) |
H234Y |
probably benign |
Het |
Rd3l |
A |
G |
12: 111,946,717 (GRCm39) |
Y20H |
probably benign |
Het |
Stk31 |
A |
G |
6: 49,386,141 (GRCm39) |
D160G |
probably damaging |
Het |
Sycp2 |
C |
T |
2: 178,016,159 (GRCm39) |
E768K |
possibly damaging |
Het |
Tango6 |
T |
C |
8: 107,415,527 (GRCm39) |
V116A |
probably benign |
Het |
Ttn |
C |
T |
2: 76,697,574 (GRCm39) |
|
probably benign |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Xylb |
T |
C |
9: 119,212,443 (GRCm39) |
I427T |
probably damaging |
Het |
Zc3h7a |
T |
G |
16: 10,956,939 (GRCm39) |
D890A |
probably damaging |
Het |
|
Other mutations in Fam110b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01082:Fam110b
|
APN |
4 |
5,799,461 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL01981:Fam110b
|
APN |
4 |
5,799,481 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03022:Fam110b
|
APN |
4 |
5,799,448 (GRCm39) |
missense |
probably benign |
0.00 |
R1033:Fam110b
|
UTSW |
4 |
5,799,440 (GRCm39) |
missense |
probably benign |
0.06 |
R1525:Fam110b
|
UTSW |
4 |
5,799,578 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1824:Fam110b
|
UTSW |
4 |
5,799,029 (GRCm39) |
missense |
probably benign |
0.01 |
R1894:Fam110b
|
UTSW |
4 |
5,798,840 (GRCm39) |
missense |
probably damaging |
0.99 |
R2032:Fam110b
|
UTSW |
4 |
5,799,460 (GRCm39) |
missense |
probably benign |
0.09 |
R4471:Fam110b
|
UTSW |
4 |
5,799,092 (GRCm39) |
missense |
probably benign |
|
R5436:Fam110b
|
UTSW |
4 |
5,799,104 (GRCm39) |
missense |
probably benign |
0.45 |
R5640:Fam110b
|
UTSW |
4 |
5,798,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R7291:Fam110b
|
UTSW |
4 |
5,798,895 (GRCm39) |
missense |
probably benign |
0.03 |
R8037:Fam110b
|
UTSW |
4 |
5,799,511 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8515:Fam110b
|
UTSW |
4 |
5,799,380 (GRCm39) |
missense |
probably benign |
0.00 |
R8873:Fam110b
|
UTSW |
4 |
5,799,103 (GRCm39) |
nonsense |
probably null |
|
R9557:Fam110b
|
UTSW |
4 |
5,799,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R9740:Fam110b
|
UTSW |
4 |
5,799,070 (GRCm39) |
missense |
probably benign |
0.06 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAGTGACCAGTGTGAAGCCCC -3'
(R):5'- TGGAGAAGCTCACAACACTTCAAGG -3'
Sequencing Primer
(F):5'- GTGTGAAGCCCCTTAAAGCC -3'
(R):5'- GTGGGACACCTTCTGTGACTC -3'
|
Posted On |
2014-01-05 |