Incidental Mutation 'R5438:Zfp141'
| ID |
428472 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp141
|
| Ensembl Gene |
ENSMUSG00000092416 |
| Gene Name |
zinc finger protein 141 |
| Synonyms |
|
| MMRRC Submission |
043003-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5438 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
42122810-42155164 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42138894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 46
(V46A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145574
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173489]
[ENSMUST00000174407]
|
| AlphaFold |
G3UY09 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173439
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173489
AA Change: V46A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173599
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174407
AA Change: V46A
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133899
Gene: ENSMUSG00000092416
AA Change: V46A
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
18 |
78 |
4.41e-34 |
SMART |
|
internal_repeat_1
|
146 |
405 |
8.73e-7 |
PROSPERO |
|
ZnF_C2H2
|
410 |
432 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
438 |
460 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
466 |
488 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
494 |
516 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
522 |
544 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
550 |
572 |
4.01e-5 |
SMART |
|
ZnF_C2H2
|
578 |
600 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
606 |
628 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
634 |
656 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
662 |
684 |
4.87e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in abnormal skin pigmentation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
C |
A |
7: 66,538,165 (GRCm39) |
Q244K |
probably benign |
Het |
| Arpc2 |
T |
A |
1: 74,275,995 (GRCm39) |
L4Q |
probably null |
Het |
| Atp7b |
C |
T |
8: 22,504,570 (GRCm39) |
V581I |
probably benign |
Het |
| Bpifb9b |
T |
A |
2: 154,151,288 (GRCm39) |
V3D |
possibly damaging |
Het |
| Capn13 |
A |
G |
17: 73,633,479 (GRCm39) |
F525L |
probably benign |
Het |
| Cimip4 |
T |
C |
15: 78,263,040 (GRCm39) |
T180A |
possibly damaging |
Het |
| Cmya5 |
G |
T |
13: 93,231,707 (GRCm39) |
T1127K |
possibly damaging |
Het |
| Col6a4 |
A |
T |
9: 105,890,895 (GRCm39) |
L1800I |
possibly damaging |
Het |
| Cpd |
T |
A |
11: 76,682,792 (GRCm39) |
I1076F |
possibly damaging |
Het |
| Elp4 |
A |
G |
2: 105,734,748 (GRCm39) |
F29S |
probably damaging |
Het |
| Exosc10 |
T |
A |
4: 148,650,799 (GRCm39) |
Y448* |
probably null |
Het |
| Fam219a |
A |
G |
4: 41,520,302 (GRCm39) |
S149P |
probably damaging |
Het |
| Gdap2 |
A |
T |
3: 100,085,629 (GRCm39) |
I184F |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,720,870 (GRCm39) |
N409D |
probably benign |
Het |
| Grin2b |
C |
T |
6: 135,713,304 (GRCm39) |
G859D |
probably damaging |
Het |
| Hvcn1 |
A |
G |
5: 122,376,527 (GRCm39) |
K153R |
probably damaging |
Het |
| Ighv3-1 |
T |
A |
12: 113,928,089 (GRCm39) |
H90L |
probably benign |
Het |
| Kcnn3 |
T |
A |
3: 89,428,605 (GRCm39) |
L277Q |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,107,769 (GRCm39) |
S2128T |
possibly damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,598,321 (GRCm39) |
S919T |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,661,455 (GRCm39) |
N1163S |
probably damaging |
Het |
| Mypn |
G |
T |
10: 62,971,618 (GRCm39) |
C807* |
probably null |
Het |
| Or52n5 |
G |
A |
7: 104,588,344 (GRCm39) |
V204I |
probably benign |
Het |
| Or5m8 |
T |
C |
2: 85,822,925 (GRCm39) |
F255L |
probably damaging |
Het |
| Otud7a |
A |
G |
7: 63,407,207 (GRCm39) |
N62S |
unknown |
Het |
| Pcdh18 |
A |
T |
3: 49,710,465 (GRCm39) |
Y283* |
probably null |
Het |
| Ptger2 |
A |
T |
14: 45,227,101 (GRCm39) |
H227L |
possibly damaging |
Het |
| Slc24a5 |
A |
G |
2: 124,910,785 (GRCm39) |
Y72C |
probably damaging |
Het |
| Slc35f2 |
T |
A |
9: 53,708,302 (GRCm39) |
D98E |
probably benign |
Het |
| Smad1 |
A |
T |
8: 80,082,949 (GRCm39) |
F184I |
probably benign |
Het |
| Sncg |
C |
T |
14: 34,095,637 (GRCm39) |
V52I |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Zc3h11a |
C |
T |
1: 133,568,385 (GRCm39) |
R88H |
probably damaging |
Het |
| Zfp472 |
T |
A |
17: 33,197,193 (GRCm39) |
C423S |
probably damaging |
Het |
| Zfp729a |
A |
T |
13: 67,767,705 (GRCm39) |
H841Q |
possibly damaging |
Het |
|
| Other mutations in Zfp141 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00593:Zfp141
|
APN |
7 |
42,124,731 (GRCm39) |
nonsense |
probably null |
|
|
IGL00595:Zfp141
|
APN |
7 |
42,126,079 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0577:Zfp141
|
UTSW |
7 |
42,125,938 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0883:Zfp141
|
UTSW |
7 |
42,125,480 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1701:Zfp141
|
UTSW |
7 |
42,125,470 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2290:Zfp141
|
UTSW |
7 |
42,124,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4176:Zfp141
|
UTSW |
7 |
42,125,705 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4719:Zfp141
|
UTSW |
7 |
42,126,111 (GRCm39) |
splice site |
probably null |
|
|
R4897:Zfp141
|
UTSW |
7 |
42,125,629 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5372:Zfp141
|
UTSW |
7 |
42,126,620 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5447:Zfp141
|
UTSW |
7 |
42,124,983 (GRCm39) |
nonsense |
probably null |
|
|
R5743:Zfp141
|
UTSW |
7 |
42,125,855 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5969:Zfp141
|
UTSW |
7 |
42,138,912 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6731:Zfp141
|
UTSW |
7 |
42,138,924 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7127:Zfp141
|
UTSW |
7 |
42,124,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7474:Zfp141
|
UTSW |
7 |
42,125,678 (GRCm39) |
nonsense |
probably null |
|
|
R7572:Zfp141
|
UTSW |
7 |
42,124,856 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7830:Zfp141
|
UTSW |
7 |
42,124,612 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7890:Zfp141
|
UTSW |
7 |
42,125,903 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8133:Zfp141
|
UTSW |
7 |
42,124,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8833:Zfp141
|
UTSW |
7 |
42,125,687 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9238:Zfp141
|
UTSW |
7 |
42,125,111 (GRCm39) |
nonsense |
probably null |
|
|
R9245:Zfp141
|
UTSW |
7 |
42,124,821 (GRCm39) |
nonsense |
probably null |
|
|
R9339:Zfp141
|
UTSW |
7 |
42,125,639 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9348:Zfp141
|
UTSW |
7 |
42,124,814 (GRCm39) |
nonsense |
probably null |
|
|
R9498:Zfp141
|
UTSW |
7 |
42,125,770 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTATACACAAGACAATCAGCACTG -3'
(R):5'- CAAGTCAAAATGTCCTCCGTC -3'
Sequencing Primer
(F):5'- GACAATCAGCACTGTCTAGGAC -3'
(R):5'- AATGTCCTCCGTCCCACATCATAG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation