Incidental Mutation 'R5193:Kifbp'
| ID |
399857 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kifbp
|
| Ensembl Gene |
ENSMUSG00000036955 |
| Gene Name |
kinesin family binding protein |
| Synonyms |
2510003E04Rik, Kif1bp |
| MMRRC Submission |
042769-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5193 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
62394249-62414846 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62395175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 489
(D489G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065160
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065887]
[ENSMUST00000159704]
[ENSMUST00000162525]
[ENSMUST00000162648]
[ENSMUST00000162759]
|
| AlphaFold |
Q6ZPU9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065887
AA Change: D489G
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000065160
Gene: ENSMUSG00000036955
AA Change: D489G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
84 |
N/A |
INTRINSIC |
|
Blast:TPR
|
204 |
235 |
1e-5 |
BLAST |
|
Pfam:KBP_C
|
243 |
610 |
6.6e-124 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159704
|
| SMART Domains |
Protein: ENSMUSP00000134770
Gene: ENSMUSG00000036955
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
84 |
N/A |
INTRINSIC |
|
Blast:TPR
|
204 |
235 |
1e-5 |
BLAST |
|
Pfam:KBP_C
|
242 |
383 |
2.7e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162263
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162525
|
| SMART Domains |
Protein: ENSMUSP00000125162
Gene: ENSMUSG00000036955
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
84 |
N/A |
INTRINSIC |
|
Blast:TPR
|
204 |
235 |
6e-6 |
BLAST |
|
Pfam:KBP_C
|
242 |
293 |
5.7e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162648
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162759
|
| SMART Domains |
Protein: ENSMUSP00000125236
Gene: ENSMUSG00000036955
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
84 |
N/A |
INTRINSIC |
|
Blast:TPR
|
204 |
235 |
1e-5 |
BLAST |
|
Pfam:KBP_C
|
242 |
329 |
4.8e-28 |
PFAM |
|
transmembrane domain
|
340 |
362 |
N/A |
INTRINSIC |
|
transmembrane domain
|
375 |
397 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208223
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating transport of the mitochondria. Mutations in this gene are associated with Goldberg-Shprintzen megacolon syndrome. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygous KO mice die shortly after birth from respiratory failure. Knockout affects innervation of the digestive tract, and the development of the olfactory bulb and the anterior commissure in the brain. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
A |
T |
2: 150,677,226 (GRCm39) |
*56R |
probably null |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Arfgap3 |
C |
T |
15: 83,216,898 (GRCm39) |
A156T |
probably benign |
Het |
| Bpifc |
T |
C |
10: 85,836,497 (GRCm39) |
T3A |
probably benign |
Het |
| Ccdc7a |
T |
A |
8: 129,715,278 (GRCm39) |
I269L |
probably benign |
Het |
| Cd151 |
A |
G |
7: 141,050,606 (GRCm39) |
Y253C |
probably damaging |
Het |
| Cenpl |
C |
A |
1: 160,911,037 (GRCm39) |
S328* |
probably null |
Het |
| Cfl1 |
T |
A |
19: 5,542,580 (GRCm39) |
V20D |
probably damaging |
Het |
| Clec14a |
A |
G |
12: 58,315,400 (GRCm39) |
L74P |
probably damaging |
Het |
| Cnn1 |
A |
T |
9: 22,019,132 (GRCm39) |
D196V |
probably damaging |
Het |
| Cst13 |
C |
A |
2: 148,670,143 (GRCm39) |
C104* |
probably null |
Het |
| Det1 |
A |
G |
7: 78,493,302 (GRCm39) |
V234A |
probably damaging |
Het |
| Efnb2 |
A |
G |
8: 8,673,162 (GRCm39) |
M165T |
probably damaging |
Het |
| Fbxo10 |
T |
A |
4: 45,051,573 (GRCm39) |
K339* |
probably null |
Het |
| Fnta |
A |
T |
8: 26,501,246 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
T |
2: 82,813,338 (GRCm39) |
Y3219F |
possibly damaging |
Het |
| Gprin2 |
C |
T |
14: 33,916,832 (GRCm39) |
V313M |
possibly damaging |
Het |
| Hars1 |
A |
G |
18: 36,900,358 (GRCm39) |
L448S |
possibly damaging |
Het |
| Hipk3 |
A |
G |
2: 104,260,345 (GRCm39) |
I1166T |
possibly damaging |
Het |
| Il31ra |
T |
C |
13: 112,660,864 (GRCm39) |
E602G |
probably benign |
Het |
| Kctd15 |
A |
G |
7: 34,344,282 (GRCm39) |
L123P |
probably damaging |
Het |
| Krt1 |
C |
A |
15: 101,754,357 (GRCm39) |
S631I |
unknown |
Het |
| Lancl1 |
T |
A |
1: 67,060,173 (GRCm39) |
Y84F |
probably benign |
Het |
| Lcor |
A |
G |
19: 41,570,969 (GRCm39) |
D54G |
probably damaging |
Het |
| Mafa |
G |
T |
15: 75,619,666 (GRCm39) |
P36T |
unknown |
Het |
| Magi2 |
G |
A |
5: 20,563,970 (GRCm39) |
|
probably null |
Het |
| Mcm9 |
T |
A |
10: 53,492,134 (GRCm39) |
I396F |
probably damaging |
Het |
| Mrgprh |
T |
C |
17: 13,095,942 (GRCm39) |
F61L |
probably damaging |
Het |
| Or10g1b |
A |
G |
14: 52,628,069 (GRCm39) |
W54R |
probably benign |
Het |
| Or1e16 |
TAGCGGTCGTA |
T |
11: 73,286,479 (GRCm39) |
|
probably null |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or51a7 |
T |
A |
7: 102,615,143 (GRCm39) |
F279I |
possibly damaging |
Het |
| Or5w17 |
A |
T |
2: 87,583,448 (GRCm39) |
D296E |
possibly damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,542,174 (GRCm39) |
T806S |
possibly damaging |
Het |
| Pigc |
T |
C |
1: 161,798,465 (GRCm39) |
I149T |
possibly damaging |
Het |
| Pou5f2 |
C |
A |
13: 78,173,083 (GRCm39) |
N8K |
probably benign |
Het |
| Pou6f2 |
T |
C |
13: 18,300,129 (GRCm39) |
|
probably benign |
Het |
| Prl3d2 |
T |
A |
13: 27,306,312 (GRCm39) |
M13K |
possibly damaging |
Het |
| Pzp |
T |
C |
6: 128,479,297 (GRCm39) |
N619D |
probably benign |
Het |
| Rnps1 |
G |
A |
17: 24,637,517 (GRCm39) |
S53N |
probably benign |
Het |
| Scaf8 |
C |
G |
17: 3,240,440 (GRCm39) |
A604G |
probably benign |
Het |
| Scn10a |
T |
C |
9: 119,438,721 (GRCm39) |
N1716S |
probably damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc34a1 |
A |
G |
13: 24,003,845 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
G |
12: 76,141,194 (GRCm39) |
D6102G |
probably damaging |
Het |
| Tbc1d16 |
A |
T |
11: 119,049,646 (GRCm39) |
D283E |
probably benign |
Het |
| Tet1 |
T |
C |
10: 62,674,026 (GRCm39) |
D1350G |
probably benign |
Het |
| Trpa1 |
A |
G |
1: 14,946,141 (GRCm39) |
Y997H |
possibly damaging |
Het |
| Tyro3 |
T |
C |
2: 119,640,998 (GRCm39) |
L494P |
probably damaging |
Het |
| Uba6 |
G |
T |
5: 86,272,281 (GRCm39) |
Q803K |
probably benign |
Het |
| Vgll2 |
T |
A |
10: 51,904,088 (GRCm39) |
L317Q |
possibly damaging |
Het |
| Wdr62 |
A |
T |
7: 29,964,592 (GRCm39) |
I384N |
probably damaging |
Het |
| Wdtc1 |
G |
A |
4: 133,021,678 (GRCm39) |
R619* |
probably null |
Het |
| Xkr6 |
A |
G |
14: 64,056,356 (GRCm39) |
D89G |
possibly damaging |
Het |
|
| Other mutations in Kifbp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00566:Kifbp
|
APN |
10 |
62,395,118 (GRCm39) |
nonsense |
probably null |
|
|
IGL02127:Kifbp
|
APN |
10 |
62,414,128 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03304:Kifbp
|
APN |
10 |
62,395,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02980:Kifbp
|
UTSW |
10 |
62,394,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0317:Kifbp
|
UTSW |
10 |
62,413,861 (GRCm39) |
splice site |
probably null |
|
|
R0408:Kifbp
|
UTSW |
10 |
62,401,832 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0462:Kifbp
|
UTSW |
10 |
62,395,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Kifbp
|
UTSW |
10 |
62,395,229 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1469:Kifbp
|
UTSW |
10 |
62,395,229 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1503:Kifbp
|
UTSW |
10 |
62,395,187 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1830:Kifbp
|
UTSW |
10 |
62,395,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3848:Kifbp
|
UTSW |
10 |
62,405,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4486:Kifbp
|
UTSW |
10 |
62,398,806 (GRCm39) |
intron |
probably benign |
|
|
R4488:Kifbp
|
UTSW |
10 |
62,398,806 (GRCm39) |
intron |
probably benign |
|
|
R4489:Kifbp
|
UTSW |
10 |
62,398,806 (GRCm39) |
intron |
probably benign |
|
|
R5137:Kifbp
|
UTSW |
10 |
62,414,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5212:Kifbp
|
UTSW |
10 |
62,398,908 (GRCm39) |
intron |
probably benign |
|
|
R5929:Kifbp
|
UTSW |
10 |
62,395,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6179:Kifbp
|
UTSW |
10 |
62,399,029 (GRCm39) |
nonsense |
probably null |
|
|
R6488:Kifbp
|
UTSW |
10 |
62,395,437 (GRCm39) |
splice site |
probably null |
|
|
R6513:Kifbp
|
UTSW |
10 |
62,410,813 (GRCm39) |
splice site |
probably null |
|
|
R6808:Kifbp
|
UTSW |
10 |
62,410,923 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6900:Kifbp
|
UTSW |
10 |
62,394,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6916:Kifbp
|
UTSW |
10 |
62,401,843 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7092:Kifbp
|
UTSW |
10 |
62,414,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7289:Kifbp
|
UTSW |
10 |
62,401,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7376:Kifbp
|
UTSW |
10 |
62,394,843 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7672:Kifbp
|
UTSW |
10 |
62,413,852 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8134:Kifbp
|
UTSW |
10 |
62,413,756 (GRCm39) |
missense |
probably benign |
|
|
R8809:Kifbp
|
UTSW |
10 |
62,395,491 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8899:Kifbp
|
UTSW |
10 |
62,399,282 (GRCm39) |
intron |
probably benign |
|
|
R9094:Kifbp
|
UTSW |
10 |
62,395,037 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAGCTACCCGGAATTTAGC -3'
(R):5'- CCACATTGAAGTTGTCCAGGAC -3'
Sequencing Primer
(F):5'- GCTACCCGGAATTTAGCTAACATGG -3'
(R):5'- CATTGAAGTTGTCCAGGACCACAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation