Incidental Mutation 'R8473:Kif19a'
| ID |
657133 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif19a
|
| Ensembl Gene |
ENSMUSG00000010021 |
| Gene Name |
kinesin family member 19A |
| Synonyms |
N-8 kinesin |
| MMRRC Submission |
067917-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R8473 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
114656227-114681565 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 114678377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 677
(S677A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000206]
[ENSMUST00000084368]
[ENSMUST00000138804]
|
| AlphaFold |
Q99PT9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000206
|
| SMART Domains |
Protein: ENSMUSP00000000206
Gene: ENSMUSG00000000202
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
|
BTB
|
63 |
162 |
2.01e-11 |
SMART |
|
BACK
|
169 |
269 |
8.58e-19 |
SMART |
|
Blast:BACK
|
425 |
460 |
1e-14 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084368
AA Change: S677A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081398
Gene: ENSMUSG00000010021
AA Change: S677A
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
9 |
354 |
4.53e-150 |
SMART |
|
coiled coil region
|
361 |
388 |
N/A |
INTRINSIC |
|
coiled coil region
|
431 |
449 |
N/A |
INTRINSIC |
|
coiled coil region
|
506 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
641 |
N/A |
INTRINSIC |
|
low complexity region
|
750 |
766 |
N/A |
INTRINSIC |
|
low complexity region
|
807 |
815 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138340
|
| SMART Domains |
Protein: ENSMUSP00000122743
Gene: ENSMUSG00000010021
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
87 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000115663
Gene: ENSMUSG00000010021
AA Change: S635A
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
9 |
312 |
2.99e-118 |
SMART |
|
coiled coil region
|
319 |
346 |
N/A |
INTRINSIC |
|
coiled coil region
|
389 |
407 |
N/A |
INTRINSIC |
|
coiled coil region
|
464 |
509 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
683 |
692 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display partial postnatal lethality, hydroencephaly, female infertility, oviduct obstruction, increased motile cilium length and impaired motile cilium movement. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930583I09Rik |
T |
C |
17: 65,141,513 (GRCm39) |
D30G |
unknown |
Het |
| Acad12 |
T |
C |
5: 121,745,538 (GRCm39) |
D251G |
probably damaging |
Het |
| Adamts15 |
T |
A |
9: 30,816,085 (GRCm39) |
T625S |
probably damaging |
Het |
| Atg13 |
A |
T |
2: 91,518,993 (GRCm39) |
L151M |
probably damaging |
Het |
| Atp5f1a |
T |
C |
18: 77,867,625 (GRCm39) |
F250L |
probably damaging |
Het |
| Blnk |
T |
C |
19: 40,940,854 (GRCm39) |
E183G |
possibly damaging |
Het |
| Csf3 |
T |
C |
11: 98,592,928 (GRCm39) |
L97P |
probably damaging |
Het |
| Derl2 |
A |
G |
11: 70,910,035 (GRCm39) |
Y10H |
probably damaging |
Het |
| Dgkb |
A |
G |
12: 38,234,939 (GRCm39) |
N435D |
probably damaging |
Het |
| Dpy19l2 |
C |
A |
9: 24,492,526 (GRCm39) |
V691L |
probably benign |
Het |
| Exoc5 |
T |
C |
14: 49,256,860 (GRCm39) |
S509G |
probably null |
Het |
| Fancg |
A |
G |
4: 43,004,963 (GRCm39) |
I410T |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,777,336 (GRCm39) |
G121D |
probably damaging |
Het |
| Gfm1 |
T |
C |
3: 67,361,051 (GRCm39) |
S458P |
possibly damaging |
Het |
| Gm6882 |
A |
T |
7: 21,161,440 (GRCm39) |
Y143N |
probably damaging |
Het |
| Grm5 |
T |
A |
7: 87,252,278 (GRCm39) |
M176K |
probably damaging |
Het |
| Herc6 |
T |
A |
6: 57,624,099 (GRCm39) |
V623D |
probably damaging |
Het |
| Hmcn1 |
G |
T |
1: 150,479,551 (GRCm39) |
P4638T |
possibly damaging |
Het |
| Il27ra |
A |
G |
8: 84,768,735 (GRCm39) |
Y62H |
probably benign |
Het |
| Kcnh8 |
A |
T |
17: 53,285,320 (GRCm39) |
S1097C |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,434,266 (GRCm39) |
T792A |
unknown |
Het |
| Or8d4 |
T |
C |
9: 40,038,506 (GRCm39) |
I250M |
probably benign |
Het |
| Pcdhgb7 |
T |
A |
18: 37,886,852 (GRCm39) |
V674D |
probably benign |
Het |
| Pik3r6 |
A |
G |
11: 68,417,207 (GRCm39) |
S50G |
probably benign |
Het |
| Ptpn12 |
T |
C |
5: 21,203,357 (GRCm39) |
T474A |
probably benign |
Het |
| Rbbp6 |
T |
C |
7: 122,600,421 (GRCm39) |
|
probably benign |
Het |
| Scaper |
T |
C |
9: 55,458,131 (GRCm39) |
Y880C |
probably damaging |
Het |
| Smc5 |
A |
T |
19: 23,221,446 (GRCm39) |
V361D |
probably benign |
Het |
| Stag1 |
T |
A |
9: 100,762,840 (GRCm39) |
H480Q |
probably damaging |
Het |
| Tdpoz2 |
T |
C |
3: 93,559,153 (GRCm39) |
E273G |
probably damaging |
Het |
| Tdpoz3 |
T |
A |
3: 93,733,870 (GRCm39) |
W182R |
possibly damaging |
Het |
| Tmx4 |
T |
C |
2: 134,451,444 (GRCm39) |
T170A |
probably benign |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,064 (GRCm39) |
M232K |
possibly damaging |
Het |
| Wdr20rt |
A |
G |
12: 65,273,380 (GRCm39) |
D180G |
probably damaging |
Het |
|
| Other mutations in Kif19a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00330:Kif19a
|
APN |
11 |
114,670,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00743:Kif19a
|
APN |
11 |
114,675,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00763:Kif19a
|
APN |
11 |
114,657,994 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01327:Kif19a
|
APN |
11 |
114,672,625 (GRCm39) |
splice site |
probably benign |
|
|
IGL02422:Kif19a
|
APN |
11 |
114,680,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02481:Kif19a
|
APN |
11 |
114,679,979 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02496:Kif19a
|
APN |
11 |
114,670,470 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02735:Kif19a
|
APN |
11 |
114,676,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02830:Kif19a
|
APN |
11 |
114,672,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02902:Kif19a
|
APN |
11 |
114,676,396 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL03372:Kif19a
|
APN |
11 |
114,670,044 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4520001:Kif19a
|
UTSW |
11 |
114,672,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0212:Kif19a
|
UTSW |
11 |
114,675,736 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0383:Kif19a
|
UTSW |
11 |
114,656,340 (GRCm39) |
start codon destroyed |
possibly damaging |
0.63 |
|
R0850:Kif19a
|
UTSW |
11 |
114,671,613 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1343:Kif19a
|
UTSW |
11 |
114,676,653 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1422:Kif19a
|
UTSW |
11 |
114,676,635 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1547:Kif19a
|
UTSW |
11 |
114,677,398 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1591:Kif19a
|
UTSW |
11 |
114,680,057 (GRCm39) |
missense |
probably benign |
|
|
R2148:Kif19a
|
UTSW |
11 |
114,671,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2291:Kif19a
|
UTSW |
11 |
114,681,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3814:Kif19a
|
UTSW |
11 |
114,672,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3944:Kif19a
|
UTSW |
11 |
114,677,561 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4631:Kif19a
|
UTSW |
11 |
114,675,673 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4866:Kif19a
|
UTSW |
11 |
114,658,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4867:Kif19a
|
UTSW |
11 |
114,658,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5022:Kif19a
|
UTSW |
11 |
114,658,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5071:Kif19a
|
UTSW |
11 |
114,658,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5072:Kif19a
|
UTSW |
11 |
114,658,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5073:Kif19a
|
UTSW |
11 |
114,658,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5074:Kif19a
|
UTSW |
11 |
114,658,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5091:Kif19a
|
UTSW |
11 |
114,673,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5640:Kif19a
|
UTSW |
11 |
114,670,041 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5646:Kif19a
|
UTSW |
11 |
114,670,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5786:Kif19a
|
UTSW |
11 |
114,670,049 (GRCm39) |
nonsense |
probably null |
|
|
R5890:Kif19a
|
UTSW |
11 |
114,680,264 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6344:Kif19a
|
UTSW |
11 |
114,672,777 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6522:Kif19a
|
UTSW |
11 |
114,676,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6570:Kif19a
|
UTSW |
11 |
114,675,731 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6879:Kif19a
|
UTSW |
11 |
114,672,159 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7028:Kif19a
|
UTSW |
11 |
114,672,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7274:Kif19a
|
UTSW |
11 |
114,656,281 (GRCm39) |
start gained |
probably benign |
|
|
R7492:Kif19a
|
UTSW |
11 |
114,681,065 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7782:Kif19a
|
UTSW |
11 |
114,672,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8712:Kif19a
|
UTSW |
11 |
114,675,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9332:Kif19a
|
UTSW |
11 |
114,680,033 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9596:Kif19a
|
UTSW |
11 |
114,676,752 (GRCm39) |
missense |
probably benign |
0.31 |
|
Z1176:Kif19a
|
UTSW |
11 |
114,680,655 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1176:Kif19a
|
UTSW |
11 |
114,677,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Kif19a
|
UTSW |
11 |
114,675,730 (GRCm39) |
missense |
probably benign |
0.33 |
|
Z1177:Kif19a
|
UTSW |
11 |
114,672,141 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAATGGTCCCAGCTTGCTG -3'
(R):5'- CCTAGAGAAGAGCCTGTTGGTG -3'
Sequencing Primer
(F):5'- AGAGCACAGGCCCAGTG -3'
(R):5'- AAGAGCCTGTTGGTGCCAATG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation