Incidental Mutation 'R9528:Zfp148'
| ID |
719357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp148
|
| Ensembl Gene |
ENSMUSG00000022811 |
| Gene Name |
zinc finger protein 148 |
| Synonyms |
2210405J08Rik, ZBP-89, BFCOL1, BERF-1, beta enolase repressor factor 1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9528 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
33201145-33324273 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33316660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 444
(I444N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089677]
[ENSMUST00000165418]
[ENSMUST00000232023]
|
| AlphaFold |
Q61624 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089677
AA Change: I444N
PolyPhen 2
Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000087106
Gene: ENSMUSG00000022811
AA Change: I444N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
141 |
149 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
171 |
193 |
4.4e-2 |
SMART |
|
ZnF_C2H2
|
199 |
221 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
227 |
249 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
255 |
278 |
4.57e0 |
SMART |
|
low complexity region
|
314 |
323 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
589 |
596 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165418
AA Change: I444N
PolyPhen 2
Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000126338
Gene: ENSMUSG00000022811
AA Change: I444N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
141 |
149 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
171 |
193 |
4.4e-2 |
SMART |
|
ZnF_C2H2
|
199 |
221 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
227 |
249 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
255 |
278 |
4.57e0 |
SMART |
|
low complexity region
|
314 |
323 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
589 |
596 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232023
AA Change: I402N
PolyPhen 2
Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Kruppel family of zinc finger DNA binding proteins. The encoded protein activates transcription of the T-cell receptor and intestinal alkaline phosphatase genes but represses transcription of the ornithine decarboxylase, vimentin, gastrin, stomelysin, and enolase genes. Increased expression of this gene results in decreased patient survival rates from colorectal cancer, while mutations in this gene have been associated with global developmental delay, hypoplastic corpus callosum, and dysmorphic facies. [provided by RefSeq, Feb 2017]
PHENOTYPE: Disruption of one allele results in haploinsufficient male infertility in which chimeric males display a loss of germ cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030452D12Rik |
A |
T |
8: 107,231,129 (GRCm39) |
D105V |
unknown |
Het |
| Abi2 |
T |
C |
1: 60,473,453 (GRCm39) |
S57P |
probably damaging |
Het |
| Acap2 |
C |
A |
16: 30,929,908 (GRCm39) |
K358N |
possibly damaging |
Het |
| Adgrd1 |
A |
G |
5: 129,256,740 (GRCm39) |
Y703C |
probably benign |
Het |
| Alpi |
A |
G |
1: 87,026,772 (GRCm39) |
|
probably null |
Het |
| Bpifb9b |
A |
G |
2: 154,153,297 (GRCm39) |
E121G |
probably benign |
Het |
| Btnl1 |
T |
A |
17: 34,603,352 (GRCm39) |
F338I |
possibly damaging |
Het |
| Clptm1l |
G |
A |
13: 73,760,550 (GRCm39) |
S311N |
possibly damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
T |
A |
1: 90,731,789 (GRCm39) |
K1488M |
probably damaging |
Het |
| Crot |
A |
T |
5: 9,043,575 (GRCm39) |
Y16N |
possibly damaging |
Het |
| Dnajc13 |
T |
C |
9: 104,114,904 (GRCm39) |
S56G |
probably benign |
Het |
| Dpep3 |
C |
A |
8: 106,704,251 (GRCm39) |
A230S |
probably benign |
Het |
| Gabrr2 |
T |
C |
4: 33,081,483 (GRCm39) |
I173T |
probably benign |
Het |
| Klhl5 |
T |
C |
5: 65,313,586 (GRCm39) |
|
probably null |
Het |
| Lekr1 |
T |
C |
3: 65,591,608 (GRCm39) |
F115S |
unknown |
Het |
| Lipc |
A |
T |
9: 70,841,841 (GRCm39) |
M1K |
probably null |
Het |
| Lrfn5 |
T |
A |
12: 61,886,408 (GRCm39) |
N65K |
probably benign |
Het |
| Mmp17 |
G |
C |
5: 129,683,392 (GRCm39) |
E509D |
probably benign |
Het |
| Myo1f |
T |
C |
17: 33,797,156 (GRCm39) |
|
probably null |
Het |
| Or10h28 |
T |
A |
17: 33,488,445 (GRCm39) |
V249E |
probably damaging |
Het |
| Or14a258 |
T |
A |
7: 86,035,059 (GRCm39) |
R270* |
probably null |
Het |
| Or1o3 |
T |
A |
17: 37,574,087 (GRCm39) |
H156L |
probably benign |
Het |
| Or7g32 |
A |
G |
9: 19,389,444 (GRCm39) |
F34S |
probably damaging |
Het |
| Pclo |
G |
A |
5: 14,727,691 (GRCm39) |
R2183Q |
unknown |
Het |
| Plec |
T |
A |
15: 76,061,033 (GRCm39) |
H2968L |
possibly damaging |
Het |
| Ppp2r1a |
A |
G |
17: 21,176,153 (GRCm39) |
E125G |
probably benign |
Het |
| Prkcd |
T |
C |
14: 30,323,768 (GRCm39) |
D458G |
probably damaging |
Het |
| Ptch1 |
A |
C |
13: 63,661,615 (GRCm39) |
N1174K |
probably benign |
Het |
| Sarnp |
A |
G |
10: 128,708,326 (GRCm39) |
R180G |
probably damaging |
Het |
| Secisbp2 |
A |
G |
13: 51,810,979 (GRCm39) |
K214E |
possibly damaging |
Het |
| Sorl1 |
C |
A |
9: 41,933,631 (GRCm39) |
|
probably null |
Het |
| Speg |
T |
A |
1: 75,364,447 (GRCm39) |
I276N |
possibly damaging |
Het |
| Txnrd3 |
A |
G |
6: 89,649,954 (GRCm39) |
Y518C |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,837,960 (GRCm39) |
I964F |
possibly damaging |
Het |
| Wars2 |
A |
G |
3: 99,111,922 (GRCm39) |
H140R |
possibly damaging |
Het |
|
| Other mutations in Zfp148 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01305:Zfp148
|
APN |
16 |
33,277,313 (GRCm39) |
missense |
probably benign |
|
|
IGL02059:Zfp148
|
APN |
16 |
33,316,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02389:Zfp148
|
APN |
16 |
33,315,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU22:Zfp148
|
UTSW |
16 |
33,277,313 (GRCm39) |
missense |
probably benign |
|
|
R0680:Zfp148
|
UTSW |
16 |
33,316,174 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1455:Zfp148
|
UTSW |
16 |
33,315,835 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2175:Zfp148
|
UTSW |
16 |
33,317,116 (GRCm39) |
nonsense |
probably null |
|
|
R2497:Zfp148
|
UTSW |
16 |
33,316,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4229:Zfp148
|
UTSW |
16 |
33,255,133 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4470:Zfp148
|
UTSW |
16 |
33,316,602 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4687:Zfp148
|
UTSW |
16 |
33,317,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4693:Zfp148
|
UTSW |
16 |
33,288,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4701:Zfp148
|
UTSW |
16 |
33,277,278 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5272:Zfp148
|
UTSW |
16 |
33,316,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5479:Zfp148
|
UTSW |
16 |
33,317,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5511:Zfp148
|
UTSW |
16 |
33,255,004 (GRCm39) |
start gained |
probably benign |
|
|
R5679:Zfp148
|
UTSW |
16 |
33,316,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5798:Zfp148
|
UTSW |
16 |
33,316,513 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6142:Zfp148
|
UTSW |
16 |
33,315,829 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6368:Zfp148
|
UTSW |
16 |
33,317,568 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6866:Zfp148
|
UTSW |
16 |
33,288,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7347:Zfp148
|
UTSW |
16 |
33,255,160 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7419:Zfp148
|
UTSW |
16 |
33,317,511 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7709:Zfp148
|
UTSW |
16 |
33,288,545 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8771:Zfp148
|
UTSW |
16 |
33,317,656 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9120:Zfp148
|
UTSW |
16 |
33,317,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9591:Zfp148
|
UTSW |
16 |
33,315,737 (GRCm39) |
missense |
|
|
|
Z1177:Zfp148
|
UTSW |
16 |
33,317,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Zfp148
|
UTSW |
16 |
33,316,839 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACCTAGAAGATGCATCTGGAG -3'
(R):5'- TTTCATCAATGACGCTGGCC -3'
Sequencing Primer
(F):5'- GATGCATCTGGAGAAATACACCC -3'
(R):5'- GGCGGCTTGTGTCACAGAAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation