Incidental Mutation 'R2226:Zfp738'
ID |
239744 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp738
|
Ensembl Gene |
ENSMUSG00000048280 |
Gene Name |
zinc finger protein 738 |
Synonyms |
6720487G11Rik, 3830402I07Rik |
MMRRC Submission |
040227-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R2226 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
67815560-67831631 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 67818431 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 520
(F520S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121275
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110973]
[ENSMUST00000125495]
[ENSMUST00000137496]
[ENSMUST00000175678]
[ENSMUST00000175821]
|
AlphaFold |
B8JJX8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000110973
|
SMART Domains |
Protein: ENSMUSP00000106600 Gene: ENSMUSG00000048280
Domain | Start | End | E-Value | Type |
KRAB
|
2 |
62 |
1.97e-31 |
SMART |
SCOP:d1fgja_
|
76 |
119 |
1e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125495
|
SMART Domains |
Protein: ENSMUSP00000135683 Gene: ENSMUSG00000048280
Domain | Start | End | E-Value | Type |
KRAB
|
5 |
65 |
1.97e-31 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000137496
AA Change: F520S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121275 Gene: ENSMUSG00000048280 AA Change: F520S
Domain | Start | End | E-Value | Type |
KRAB
|
15 |
75 |
1.97e-31 |
SMART |
ZnF_C2H2
|
91 |
111 |
3.13e1 |
SMART |
ZnF_C2H2
|
119 |
141 |
9.56e1 |
SMART |
ZnF_C2H2
|
147 |
169 |
3.58e-2 |
SMART |
ZnF_C2H2
|
175 |
197 |
3.21e-4 |
SMART |
ZnF_C2H2
|
203 |
225 |
6.78e-3 |
SMART |
ZnF_C2H2
|
231 |
253 |
8.34e-3 |
SMART |
ZnF_C2H2
|
259 |
281 |
6.67e-2 |
SMART |
ZnF_C2H2
|
287 |
309 |
1.12e-3 |
SMART |
ZnF_C2H2
|
315 |
337 |
3.83e-2 |
SMART |
ZnF_C2H2
|
343 |
365 |
8.34e-3 |
SMART |
ZnF_C2H2
|
371 |
393 |
4.87e-4 |
SMART |
ZnF_C2H2
|
427 |
449 |
9.58e-3 |
SMART |
ZnF_C2H2
|
455 |
477 |
1.38e-3 |
SMART |
ZnF_C2H2
|
483 |
505 |
3.89e-3 |
SMART |
ZnF_C2H2
|
511 |
533 |
7.49e-5 |
SMART |
ZnF_C2H2
|
539 |
561 |
5.5e-3 |
SMART |
ZnF_C2H2
|
567 |
589 |
5.42e-2 |
SMART |
ZnF_C2H2
|
595 |
617 |
7.78e-3 |
SMART |
ZnF_C2H2
|
623 |
645 |
2.05e-2 |
SMART |
ZnF_C2H2
|
651 |
673 |
2.57e-3 |
SMART |
ZnF_C2H2
|
679 |
701 |
7.26e-3 |
SMART |
ZnF_C2H2
|
735 |
757 |
5.42e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175678
|
SMART Domains |
Protein: ENSMUSP00000134865 Gene: ENSMUSG00000048280
Domain | Start | End | E-Value | Type |
KRAB
|
15 |
75 |
1.97e-31 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175821
|
SMART Domains |
Protein: ENSMUSP00000135050 Gene: ENSMUSG00000048280
Domain | Start | End | E-Value | Type |
KRAB
|
5 |
65 |
1.97e-31 |
SMART |
ZnF_C2H2
|
81 |
101 |
3.13e1 |
SMART |
ZnF_C2H2
|
109 |
131 |
9.56e1 |
SMART |
ZnF_C2H2
|
137 |
159 |
3.58e-2 |
SMART |
ZnF_C2H2
|
165 |
187 |
3.21e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225507
|
Meta Mutation Damage Score |
0.2114 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl3 |
A |
T |
4: 144,190,295 (GRCm39) |
V2E |
possibly damaging |
Het |
Aen |
C |
A |
7: 78,552,199 (GRCm39) |
T15K |
probably benign |
Het |
Aggf1 |
A |
G |
13: 95,507,354 (GRCm39) |
S144P |
probably damaging |
Het |
Ar |
T |
A |
X: 97,194,937 (GRCm39) |
M517K |
probably benign |
Het |
Ascc3 |
A |
G |
10: 50,630,148 (GRCm39) |
T1746A |
probably benign |
Het |
Atg9b |
A |
G |
5: 24,591,393 (GRCm39) |
V735A |
possibly damaging |
Het |
Atp1b3 |
A |
G |
9: 96,225,329 (GRCm39) |
F113S |
probably damaging |
Het |
Cacna1h |
T |
C |
17: 25,604,917 (GRCm39) |
N1132S |
probably benign |
Het |
Ccdc150 |
A |
G |
1: 54,404,084 (GRCm39) |
I943V |
probably null |
Het |
Cntnap4 |
A |
G |
8: 113,542,120 (GRCm39) |
D751G |
probably damaging |
Het |
Dgkk |
T |
A |
X: 6,741,487 (GRCm39) |
D102E |
probably damaging |
Het |
Efhb |
A |
T |
17: 53,769,457 (GRCm39) |
|
probably null |
Het |
Elfn2 |
A |
G |
15: 78,558,443 (GRCm39) |
W35R |
probably damaging |
Het |
Emcn |
T |
C |
3: 137,109,778 (GRCm39) |
I140T |
possibly damaging |
Het |
Epha2 |
G |
A |
4: 141,048,548 (GRCm39) |
R569H |
probably damaging |
Het |
Gabrg2 |
A |
T |
11: 41,862,735 (GRCm39) |
F116L |
probably damaging |
Het |
Gm11555 |
T |
G |
11: 99,540,585 (GRCm39) |
R141S |
unknown |
Het |
Hectd3 |
T |
C |
4: 116,852,886 (GRCm39) |
I96T |
possibly damaging |
Het |
Hnrnpul2 |
T |
A |
19: 8,802,349 (GRCm39) |
N405K |
probably damaging |
Het |
Iigp1 |
A |
T |
18: 60,522,960 (GRCm39) |
K26I |
possibly damaging |
Het |
Kirrel2 |
T |
C |
7: 30,153,579 (GRCm39) |
K260R |
probably damaging |
Het |
Kpna1 |
G |
A |
16: 35,851,591 (GRCm39) |
A392T |
probably damaging |
Het |
Krt19 |
T |
C |
11: 100,032,401 (GRCm39) |
E260G |
probably damaging |
Het |
Marchf7 |
A |
G |
2: 60,060,190 (GRCm39) |
R106G |
probably benign |
Het |
Mthfd2l |
G |
T |
5: 91,096,693 (GRCm39) |
E105* |
probably null |
Het |
Mtus1 |
C |
T |
8: 41,535,812 (GRCm39) |
V635M |
probably damaging |
Het |
Ndufaf5 |
T |
C |
2: 140,030,780 (GRCm39) |
V222A |
probably benign |
Het |
Nkpd1 |
A |
T |
7: 19,253,745 (GRCm39) |
Y37F |
probably benign |
Het |
Nsun7 |
T |
A |
5: 66,418,562 (GRCm39) |
Y97* |
probably null |
Het |
Nxph3 |
T |
C |
11: 95,404,990 (GRCm39) |
Y17C |
probably benign |
Het |
Or2l5 |
T |
C |
16: 19,333,996 (GRCm39) |
H130R |
probably benign |
Het |
Or4k1 |
A |
G |
14: 50,378,076 (GRCm39) |
S7P |
probably damaging |
Het |
Or51a5 |
A |
G |
7: 102,771,115 (GRCm39) |
M292T |
probably benign |
Het |
Or5aq1 |
A |
C |
2: 86,966,590 (GRCm39) |
V25G |
possibly damaging |
Het |
Or7g19 |
A |
T |
9: 18,856,177 (GRCm39) |
I78F |
probably damaging |
Het |
P2rx2 |
A |
G |
5: 110,490,745 (GRCm39) |
F26S |
probably damaging |
Het |
Pank1 |
A |
T |
19: 34,804,763 (GRCm39) |
L131Q |
probably damaging |
Het |
Pcx |
T |
C |
19: 4,668,026 (GRCm39) |
I516T |
possibly damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,376,188 (GRCm39) |
I950T |
possibly damaging |
Het |
Ppwd1 |
A |
G |
13: 104,353,753 (GRCm39) |
L335P |
probably damaging |
Het |
Ptch1 |
A |
G |
13: 63,661,485 (GRCm39) |
S1218P |
probably damaging |
Het |
Ptpn4 |
C |
T |
1: 119,610,515 (GRCm39) |
R664Q |
probably damaging |
Het |
Semp2l1 |
A |
T |
1: 32,584,934 (GRCm39) |
H325Q |
probably damaging |
Het |
Sfxn1 |
A |
G |
13: 54,239,536 (GRCm39) |
T20A |
possibly damaging |
Het |
Sgsm3 |
A |
G |
15: 80,888,069 (GRCm39) |
E53G |
probably damaging |
Het |
Slc22a19 |
C |
T |
19: 7,661,215 (GRCm39) |
V320M |
possibly damaging |
Het |
Slc25a33 |
A |
T |
4: 149,838,306 (GRCm39) |
I122N |
probably benign |
Het |
Spata31d1a |
T |
A |
13: 59,851,529 (GRCm39) |
I200L |
probably benign |
Het |
Spin2g |
A |
T |
X: 33,656,599 (GRCm39) |
I171N |
possibly damaging |
Het |
Srsf6 |
G |
A |
2: 162,773,619 (GRCm39) |
S10N |
probably damaging |
Het |
Tesl2 |
T |
A |
X: 23,825,173 (GRCm39) |
M1L |
probably null |
Het |
Thoc2l |
T |
A |
5: 104,667,286 (GRCm39) |
Y603N |
probably damaging |
Het |
Ttc12 |
A |
G |
9: 49,353,135 (GRCm39) |
|
probably null |
Het |
Vmn2r100 |
A |
G |
17: 19,742,634 (GRCm39) |
K336R |
probably benign |
Het |
Vmn2r108 |
A |
T |
17: 20,701,295 (GRCm39) |
Y68* |
probably null |
Het |
|
Other mutations in Zfp738 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01511:Zfp738
|
APN |
13 |
67,831,520 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01734:Zfp738
|
APN |
13 |
67,831,563 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL01980:Zfp738
|
APN |
13 |
67,818,096 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02052:Zfp738
|
APN |
13 |
67,819,600 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02330:Zfp738
|
APN |
13 |
67,819,550 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02686:Zfp738
|
APN |
13 |
67,821,771 (GRCm39) |
missense |
probably damaging |
1.00 |
I2505:Zfp738
|
UTSW |
13 |
67,821,186 (GRCm39) |
missense |
probably benign |
0.36 |
R0219:Zfp738
|
UTSW |
13 |
67,831,508 (GRCm39) |
intron |
probably benign |
|
R0491:Zfp738
|
UTSW |
13 |
67,818,140 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0722:Zfp738
|
UTSW |
13 |
67,819,643 (GRCm39) |
missense |
probably benign |
0.09 |
R1116:Zfp738
|
UTSW |
13 |
67,818,362 (GRCm39) |
splice site |
probably null |
|
R1425:Zfp738
|
UTSW |
13 |
67,818,894 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1854:Zfp738
|
UTSW |
13 |
67,818,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R2095:Zfp738
|
UTSW |
13 |
67,819,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R2171:Zfp738
|
UTSW |
13 |
67,819,096 (GRCm39) |
nonsense |
probably null |
|
R2180:Zfp738
|
UTSW |
13 |
67,819,313 (GRCm39) |
missense |
probably damaging |
1.00 |
R2225:Zfp738
|
UTSW |
13 |
67,818,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R2907:Zfp738
|
UTSW |
13 |
67,818,231 (GRCm39) |
missense |
probably benign |
0.33 |
R3605:Zfp738
|
UTSW |
13 |
67,819,508 (GRCm39) |
nonsense |
probably null |
|
R4731:Zfp738
|
UTSW |
13 |
67,818,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R5037:Zfp738
|
UTSW |
13 |
67,818,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R5223:Zfp738
|
UTSW |
13 |
67,821,182 (GRCm39) |
missense |
probably damaging |
0.99 |
R5259:Zfp738
|
UTSW |
13 |
67,817,805 (GRCm39) |
missense |
probably benign |
|
R5358:Zfp738
|
UTSW |
13 |
67,819,131 (GRCm39) |
missense |
probably damaging |
0.98 |
R6404:Zfp738
|
UTSW |
13 |
67,819,179 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6874:Zfp738
|
UTSW |
13 |
67,818,382 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7041:Zfp738
|
UTSW |
13 |
67,818,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R7172:Zfp738
|
UTSW |
13 |
67,818,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R7178:Zfp738
|
UTSW |
13 |
67,821,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R7308:Zfp738
|
UTSW |
13 |
67,817,672 (GRCm39) |
missense |
probably benign |
0.00 |
R7386:Zfp738
|
UTSW |
13 |
67,818,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R7453:Zfp738
|
UTSW |
13 |
67,818,474 (GRCm39) |
missense |
probably benign |
0.42 |
R7456:Zfp738
|
UTSW |
13 |
67,817,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R7467:Zfp738
|
UTSW |
13 |
67,821,080 (GRCm39) |
missense |
probably benign |
0.03 |
R7615:Zfp738
|
UTSW |
13 |
67,818,322 (GRCm39) |
missense |
probably damaging |
0.96 |
R7663:Zfp738
|
UTSW |
13 |
67,831,520 (GRCm39) |
critical splice donor site |
probably null |
|
R7752:Zfp738
|
UTSW |
13 |
67,821,110 (GRCm39) |
nonsense |
probably null |
|
R7901:Zfp738
|
UTSW |
13 |
67,821,110 (GRCm39) |
nonsense |
probably null |
|
R8042:Zfp738
|
UTSW |
13 |
67,819,010 (GRCm39) |
missense |
probably damaging |
0.98 |
R8288:Zfp738
|
UTSW |
13 |
67,818,908 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8340:Zfp738
|
UTSW |
13 |
67,819,231 (GRCm39) |
missense |
probably damaging |
0.98 |
R8735:Zfp738
|
UTSW |
13 |
67,819,550 (GRCm39) |
missense |
probably damaging |
0.99 |
R8846:Zfp738
|
UTSW |
13 |
67,818,155 (GRCm39) |
missense |
probably benign |
0.00 |
R8896:Zfp738
|
UTSW |
13 |
67,817,910 (GRCm39) |
missense |
|
|
R9124:Zfp738
|
UTSW |
13 |
67,819,457 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9233:Zfp738
|
UTSW |
13 |
67,819,017 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9513:Zfp738
|
UTSW |
13 |
67,817,635 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CATGAAACGCCTGGTCACATATAT -3'
(R):5'- AGGCTTTCCGTTCTCTGTCA -3'
Sequencing Primer
(F):5'- TGGTCACATATATCACACTTATAGGG -3'
(R):5'- CCCTACAAGTGTGAAGTATGTGGC -3'
|
Posted On |
2014-10-15 |