Incidental Mutation 'R3425:Klf15'
| ID |
271721 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klf15
|
| Ensembl Gene |
ENSMUSG00000030087 |
| Gene Name |
Kruppel-like transcription factor 15 |
| Synonyms |
hlb444, CKLF, 1810013I09Rik, KKLF |
| MMRRC Submission |
040643-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.758)
|
| Stock # |
R3425 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
90439558-90452220 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90443802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 126
(S126P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144808
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032174]
[ENSMUST00000113530]
[ENSMUST00000203039]
[ENSMUST00000203607]
|
| AlphaFold |
Q9EPW2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032174
AA Change: S126P
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000032174
Gene: ENSMUSG00000030087
AA Change: S126P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
87 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
305 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
320 |
344 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
350 |
374 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
380 |
402 |
1.13e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113530
AA Change: S126P
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000109158
Gene: ENSMUSG00000030087
AA Change: S126P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
87 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
305 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
320 |
344 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
350 |
374 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
380 |
402 |
1.13e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203039
AA Change: S126P
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000144962
Gene: ENSMUSG00000030087
AA Change: S126P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
87 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
305 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
320 |
344 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
350 |
374 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
380 |
402 |
1.13e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203607
AA Change: S126P
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000144808
Gene: ENSMUSG00000030087
AA Change: S126P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
87 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
305 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
320 |
344 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
350 |
374 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
380 |
402 |
1.13e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205136
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
97% (30/31) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele display impaired gluconeogenesis with severe fasting induce hypoglycemia. Homozygotes are also more sensitive to induced cardiac stress and display mild cardiac and aortic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5m1 |
A |
G |
14: 49,311,140 (GRCm39) |
E70G |
probably damaging |
Het |
| Atp8b3 |
T |
C |
10: 80,372,181 (GRCm39) |
E16G |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,710,648 (GRCm39) |
D1646E |
probably damaging |
Het |
| Cyp2c70 |
G |
T |
19: 40,172,468 (GRCm39) |
A58E |
probably damaging |
Het |
| Ddx11 |
T |
C |
17: 66,446,434 (GRCm39) |
I415T |
possibly damaging |
Het |
| Gm8674 |
T |
A |
13: 50,055,792 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T22 |
A |
C |
17: 36,352,472 (GRCm39) |
L151R |
probably damaging |
Het |
| Hmgcs1 |
C |
A |
13: 120,166,668 (GRCm39) |
P420Q |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,293,248 (GRCm39) |
E575G |
probably damaging |
Het |
| Ism2 |
T |
C |
12: 87,333,871 (GRCm39) |
N58S |
probably benign |
Het |
| Kat7 |
T |
C |
11: 95,193,991 (GRCm39) |
E103G |
probably damaging |
Het |
| Mapt |
C |
T |
11: 104,189,548 (GRCm39) |
R189* |
probably null |
Het |
| Meltf |
C |
T |
16: 31,715,343 (GRCm39) |
R679* |
probably null |
Het |
| Myo1d |
T |
C |
11: 80,492,464 (GRCm39) |
T764A |
probably benign |
Het |
| Mypn |
T |
C |
10: 62,954,196 (GRCm39) |
|
probably benign |
Het |
| Or5b101 |
G |
C |
19: 13,005,411 (GRCm39) |
A94G |
probably benign |
Het |
| Or8h8 |
C |
T |
2: 86,752,950 (GRCm39) |
E309K |
probably benign |
Het |
| Ptpn4 |
T |
C |
1: 119,635,560 (GRCm39) |
D381G |
probably benign |
Het |
| Ros1 |
C |
A |
10: 52,004,512 (GRCm39) |
|
probably null |
Het |
| Scel |
T |
G |
14: 103,845,542 (GRCm39) |
V559G |
possibly damaging |
Het |
| Sez6l |
T |
C |
5: 112,574,615 (GRCm39) |
D875G |
probably damaging |
Het |
| Slc18b1 |
T |
G |
10: 23,698,874 (GRCm39) |
M348R |
probably damaging |
Het |
| Slc36a3 |
G |
T |
11: 55,033,607 (GRCm39) |
T137K |
probably benign |
Het |
| Slco4c1 |
A |
T |
1: 96,768,976 (GRCm39) |
S295R |
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,800,321 (GRCm39) |
N587K |
possibly damaging |
Het |
| Upp1 |
T |
C |
11: 9,075,700 (GRCm39) |
|
probably null |
Het |
| Zp1 |
G |
A |
19: 10,895,956 (GRCm39) |
R227W |
probably benign |
Het |
|
| Other mutations in Klf15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R5443:Klf15
|
UTSW |
6 |
90,444,342 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5985:Klf15
|
UTSW |
6 |
90,443,703 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6171:Klf15
|
UTSW |
6 |
90,443,601 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6529:Klf15
|
UTSW |
6 |
90,444,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7861:Klf15
|
UTSW |
6 |
90,443,820 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8082:Klf15
|
UTSW |
6 |
90,443,466 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8124:Klf15
|
UTSW |
6 |
90,443,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8397:Klf15
|
UTSW |
6 |
90,443,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8486:Klf15
|
UTSW |
6 |
90,444,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9166:Klf15
|
UTSW |
6 |
90,443,952 (GRCm39) |
missense |
probably benign |
|
|
R9178:Klf15
|
UTSW |
6 |
90,444,091 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9342:Klf15
|
UTSW |
6 |
90,443,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGATGACAGCGATGTCTCCAG -3'
(R):5'- CAGACTCTGGATGAAGGTGG -3'
Sequencing Primer
(F):5'- CTGTTCCTGCTACAGTGCGG -3'
(R):5'- CTCTGGATGAAGGTGGCTCCG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation