Incidental Mutation 'R4275:Fam131b'
| ID |
324753 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam131b
|
| Ensembl Gene |
ENSMUSG00000029861 |
| Gene Name |
family with sequence similarity 131, member B |
| Synonyms |
6330503C03Rik, 6530406I18Rik |
| MMRRC Submission |
041646-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R4275 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
42292246-42301577 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 42298241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 43
(L43F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031891]
[ENSMUST00000095974]
[ENSMUST00000143278]
|
| AlphaFold |
Q3TY60 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031891
AA Change: L59F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031891
Gene: ENSMUSG00000029861
AA Change: L59F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM131
|
49 |
341 |
7.4e-128 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095974
AA Change: L43F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093670
Gene: ENSMUSG00000029861
AA Change: L43F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM131
|
33 |
325 |
4.5e-128 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143278
AA Change: L71F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116779
Gene: ENSMUSG00000029861
AA Change: L71F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM131
|
61 |
353 |
1.9e-113 |
PFAM |
|
| Meta Mutation Damage Score |
0.1620 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1e |
T |
C |
1: 154,369,071 (GRCm39) |
Y322C |
probably damaging |
Het |
| Camsap2 |
A |
G |
1: 136,198,614 (GRCm39) |
V1462A |
probably benign |
Het |
| D3Ertd751e |
C |
A |
3: 41,710,589 (GRCm39) |
|
probably benign |
Het |
| Dhcr7 |
C |
T |
7: 143,396,964 (GRCm39) |
A152V |
probably damaging |
Het |
| Enpep |
A |
T |
3: 129,125,927 (GRCm39) |
N68K |
probably benign |
Het |
| Fbxl5 |
T |
A |
5: 43,920,114 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Hycc2 |
T |
C |
1: 58,569,092 (GRCm39) |
T440A |
probably benign |
Het |
| Igf2 |
T |
C |
7: 142,209,523 (GRCm39) |
M46V |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,905,842 (GRCm39) |
Y367N |
probably damaging |
Het |
| Mapk8ip2 |
T |
C |
15: 89,343,198 (GRCm39) |
W647R |
probably damaging |
Het |
| Mettl21c |
C |
T |
1: 44,049,716 (GRCm39) |
V110I |
probably damaging |
Het |
| Mrgprh |
T |
C |
17: 13,096,114 (GRCm39) |
L118P |
probably damaging |
Het |
| Myadm |
A |
G |
7: 3,345,618 (GRCm39) |
T127A |
probably benign |
Het |
| Myh10 |
A |
T |
11: 68,642,766 (GRCm39) |
|
probably null |
Het |
| Nadk |
T |
A |
4: 155,668,712 (GRCm39) |
Y128N |
probably benign |
Het |
| Or5g27 |
T |
C |
2: 85,410,207 (GRCm39) |
V208A |
probably benign |
Het |
| Or8k39 |
T |
C |
2: 86,563,936 (GRCm39) |
T7A |
probably damaging |
Het |
| Papolg |
A |
G |
11: 23,818,378 (GRCm39) |
I500T |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,128,608 (GRCm39) |
C4032S |
probably benign |
Het |
| Rnase1 |
A |
T |
14: 51,383,327 (GRCm39) |
L9Q |
probably damaging |
Het |
| Rspry1 |
G |
T |
8: 95,376,389 (GRCm39) |
V304L |
probably benign |
Het |
| Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
| Scpep1 |
T |
C |
11: 88,837,968 (GRCm39) |
|
probably null |
Het |
| Serpina3m |
T |
A |
12: 104,355,375 (GRCm39) |
I14N |
probably damaging |
Het |
| Smg6 |
A |
C |
11: 74,884,700 (GRCm39) |
|
probably benign |
Het |
| Suz12 |
T |
C |
11: 79,920,879 (GRCm39) |
M593T |
probably damaging |
Het |
| Tmem139 |
A |
G |
6: 42,241,039 (GRCm39) |
E208G |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,917,205 (GRCm39) |
Y2200C |
probably damaging |
Het |
| Usp19 |
T |
G |
9: 108,375,893 (GRCm39) |
V911G |
probably damaging |
Het |
| Vipr1 |
T |
C |
9: 121,493,684 (GRCm39) |
L245P |
probably damaging |
Het |
| Vmn2r105 |
T |
A |
17: 20,448,902 (GRCm39) |
I92F |
probably damaging |
Het |
| Zbtb47 |
T |
A |
9: 121,595,605 (GRCm39) |
V576D |
probably damaging |
Het |
| Zfp518b |
A |
G |
5: 38,829,071 (GRCm39) |
V978A |
probably damaging |
Het |
|
| Other mutations in Fam131b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00427:Fam131b
|
APN |
6 |
42,295,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01328:Fam131b
|
APN |
6 |
42,295,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02948:Fam131b
|
APN |
6 |
42,297,926 (GRCm39) |
splice site |
probably benign |
|
|
IGL03226:Fam131b
|
APN |
6 |
42,295,888 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0027:Fam131b
|
UTSW |
6 |
42,295,182 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0027:Fam131b
|
UTSW |
6 |
42,295,182 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1730:Fam131b
|
UTSW |
6 |
42,295,514 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1783:Fam131b
|
UTSW |
6 |
42,295,514 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1858:Fam131b
|
UTSW |
6 |
42,295,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1993:Fam131b
|
UTSW |
6 |
42,297,818 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1994:Fam131b
|
UTSW |
6 |
42,297,818 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4636:Fam131b
|
UTSW |
6 |
42,297,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5876:Fam131b
|
UTSW |
6 |
42,298,182 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5877:Fam131b
|
UTSW |
6 |
42,297,913 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5979:Fam131b
|
UTSW |
6 |
42,298,905 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7725:Fam131b
|
UTSW |
6 |
42,295,476 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9023:Fam131b
|
UTSW |
6 |
42,298,946 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Z1177:Fam131b
|
UTSW |
6 |
42,295,854 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGATTGGAGAGGCTTGAC -3'
(R):5'- TATAGACAGGCTATTCTGCTGATCC -3'
Sequencing Primer
(F):5'- CTTGACATAAAACCAGGTGATTCGG -3'
(R):5'- TGATCCCCCAGTATGTACCAGG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation