Incidental Mutation 'R7856:Yif1b'
| ID |
607236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Yif1b
|
| Ensembl Gene |
ENSMUSG00000030588 |
| Gene Name |
Yip1 interacting factor homolog B (S. cerevisiae) |
| Synonyms |
9430029K10Rik |
| MMRRC Submission |
045909-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R7856 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
28937754-28947022 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28944045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 137
(D137G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103873
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032808]
[ENSMUST00000032809]
[ENSMUST00000108237]
[ENSMUST00000108238]
[ENSMUST00000138128]
[ENSMUST00000142519]
|
| AlphaFold |
Q9CX30 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032808
|
| SMART Domains |
Protein: ENSMUSP00000032808
Gene: ENSMUSG00000030587
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMUP
|
1 |
114 |
1.8e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032809
AA Change: D140G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000032809
Gene: ENSMUSG00000030588
AA Change: D140G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
65 |
N/A |
INTRINSIC |
|
Pfam:YIF1
|
72 |
304 |
5.7e-86 |
PFAM |
|
Pfam:Yip1
|
110 |
282 |
7.9e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108237
AA Change: D132G
PolyPhen 2
Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103872
Gene: ENSMUSG00000030588
AA Change: D132G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
57 |
N/A |
INTRINSIC |
|
Pfam:YIF1
|
64 |
176 |
3.9e-48 |
PFAM |
|
Pfam:YIF1
|
169 |
244 |
2.5e-14 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108238
AA Change: D137G
PolyPhen 2
Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103873
Gene: ENSMUSG00000030588
AA Change: D137G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
62 |
N/A |
INTRINSIC |
|
Pfam:YIF1
|
66 |
303 |
5.4e-107 |
PFAM |
|
Pfam:Yip1
|
107 |
279 |
7.7e-11 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000117224
Gene: ENSMUSG00000030588
AA Change: D152G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
110 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142519
AA Change: D144G
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
| Meta Mutation Damage Score |
0.3415 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
All alleles(19) : Targeted(3) Gene trapped(16)
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1h |
T |
C |
17: 25,608,451 (GRCm39) |
T819A |
probably damaging |
Het |
| Ccdc34 |
T |
A |
2: 109,874,572 (GRCm39) |
Y310* |
probably null |
Het |
| Ccdc63 |
A |
G |
5: 122,268,006 (GRCm39) |
W8R |
probably benign |
Het |
| Ces2g |
G |
A |
8: 105,693,014 (GRCm39) |
V351I |
not run |
Het |
| Ces3b |
A |
G |
8: 105,819,894 (GRCm39) |
*572W |
probably null |
Het |
| Dgka |
T |
C |
10: 128,572,533 (GRCm39) |
N40S |
probably benign |
Het |
| Dnajc13 |
C |
A |
9: 104,044,684 (GRCm39) |
R1835L |
possibly damaging |
Het |
| Dusp7 |
C |
A |
9: 106,246,067 (GRCm39) |
A24E |
unknown |
Het |
| Ep400 |
T |
A |
5: 110,814,450 (GRCm39) |
T2931S |
probably damaging |
Het |
| Gm4847 |
A |
T |
1: 166,462,395 (GRCm39) |
L365Q |
probably damaging |
Het |
| Gtse1 |
C |
T |
15: 85,748,342 (GRCm39) |
T249M |
probably benign |
Het |
| Hook3 |
T |
C |
8: 26,525,249 (GRCm39) |
D619G |
probably damaging |
Het |
| Itsn1 |
T |
A |
16: 91,705,375 (GRCm39) |
|
probably null |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Mx1 |
A |
G |
16: 97,256,735 (GRCm39) |
I148T |
probably damaging |
Het |
| Or5m3 |
T |
A |
2: 85,838,640 (GRCm39) |
N173K |
probably damaging |
Het |
| Or6c1b |
A |
G |
10: 129,272,885 (GRCm39) |
E68G |
probably damaging |
Het |
| Orc3 |
T |
C |
4: 34,585,647 (GRCm39) |
I416V |
probably benign |
Het |
| Plcxd3 |
A |
T |
15: 4,546,581 (GRCm39) |
Y195F |
probably damaging |
Het |
| Ppp1r3a |
A |
T |
6: 14,718,025 (GRCm39) |
I963N |
probably benign |
Het |
| Ppp1r7 |
A |
G |
1: 93,278,068 (GRCm39) |
D69G |
possibly damaging |
Het |
| Rars1 |
A |
G |
11: 35,699,412 (GRCm39) |
V627A |
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,605,472 (GRCm39) |
S973P |
probably benign |
Het |
| Slc22a28 |
T |
C |
19: 8,040,698 (GRCm39) |
T518A |
probably damaging |
Het |
| Slc4a9 |
C |
T |
18: 36,661,751 (GRCm39) |
H92Y |
probably benign |
Het |
| Son |
A |
G |
16: 91,456,146 (GRCm39) |
D1631G |
probably damaging |
Het |
| Stat5a |
T |
C |
11: 100,774,728 (GRCm39) |
W746R |
unknown |
Het |
| Thsd4 |
A |
T |
9: 59,910,144 (GRCm39) |
L508Q |
probably damaging |
Het |
| Tlx1 |
C |
T |
19: 45,144,427 (GRCm39) |
Q292* |
probably null |
Het |
| Ttc34 |
T |
C |
4: 154,945,743 (GRCm39) |
V259A |
probably benign |
Het |
| Xrn2 |
T |
G |
2: 146,910,393 (GRCm39) |
|
probably null |
Het |
| Zfp850 |
A |
G |
7: 27,689,899 (GRCm39) |
I103T |
probably benign |
Het |
| Zfp937 |
T |
C |
2: 150,081,467 (GRCm39) |
V499A |
probably benign |
Het |
|
| Other mutations in Yif1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03172:Yif1b
|
APN |
7 |
28,937,873 (GRCm39) |
splice site |
probably null |
|
|
P0027:Yif1b
|
UTSW |
7 |
28,938,038 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3605:Yif1b
|
UTSW |
7 |
28,937,835 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3607:Yif1b
|
UTSW |
7 |
28,937,835 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5244:Yif1b
|
UTSW |
7 |
28,943,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5432:Yif1b
|
UTSW |
7 |
28,945,393 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6221:Yif1b
|
UTSW |
7 |
28,945,207 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7779:Yif1b
|
UTSW |
7 |
28,945,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8090:Yif1b
|
UTSW |
7 |
28,943,726 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8749:Yif1b
|
UTSW |
7 |
28,946,690 (GRCm39) |
missense |
probably benign |
0.07 |
|
T0722:Yif1b
|
UTSW |
7 |
28,938,038 (GRCm39) |
critical splice donor site |
probably null |
|
|
U24488:Yif1b
|
UTSW |
7 |
28,943,594 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACGGTGTATGTGGGCAAG -3'
(R):5'- AGGATCCTTACCTGTCCTGG -3'
Sequencing Primer
(F):5'- TATGTGGGCAAGAAGCTTGG -3'
(R):5'- CGGCCACCAAGATGTAGGTG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation