Incidental Mutation 'R2171:Zfp738'
ID |
237505 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp738
|
Ensembl Gene |
ENSMUSG00000048280 |
Gene Name |
zinc finger protein 738 |
Synonyms |
6720487G11Rik, 3830402I07Rik |
MMRRC Submission |
040173-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R2171 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
67815560-67831631 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 67819096 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 298
(Y298*)
|
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 null
Transcript: ENSMUST00000137496
AA Change: Y298*
|
SMART Domains |
Protein: ENSMUSP00000121275 Gene: ENSMUSG00000048280 AA Change: Y298*
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abt1 |
A |
G |
13: 23,606,387 (GRCm39) |
L189P |
probably damaging |
Het |
Adgrl3 |
C |
A |
5: 81,660,362 (GRCm39) |
S377* |
probably null |
Het |
Adgrv1 |
A |
G |
13: 81,419,037 (GRCm39) |
V5986A |
probably damaging |
Het |
Arv1 |
T |
G |
8: 125,455,094 (GRCm39) |
C102W |
probably damaging |
Het |
Asb18 |
T |
C |
1: 89,896,419 (GRCm39) |
H207R |
probably benign |
Het |
Bach2 |
T |
C |
4: 32,501,662 (GRCm39) |
V13A |
probably damaging |
Het |
Bccip |
T |
C |
7: 133,320,843 (GRCm39) |
S206P |
probably benign |
Het |
Cdhr4 |
T |
C |
9: 107,870,117 (GRCm39) |
S41P |
probably benign |
Het |
Chd7 |
A |
G |
4: 8,752,424 (GRCm39) |
Y307C |
probably damaging |
Het |
Clec4f |
A |
T |
6: 83,629,846 (GRCm39) |
S237R |
possibly damaging |
Het |
Cntnap5a |
A |
G |
1: 116,116,132 (GRCm39) |
D538G |
possibly damaging |
Het |
Col9a2 |
T |
A |
4: 120,902,198 (GRCm39) |
C173* |
probably null |
Het |
Ctr9 |
T |
A |
7: 110,646,117 (GRCm39) |
M703K |
possibly damaging |
Het |
Cyp2a12 |
A |
G |
7: 26,729,057 (GRCm39) |
Y83C |
probably damaging |
Het |
Eef1akmt3 |
A |
C |
10: 126,868,843 (GRCm39) |
D210E |
probably benign |
Het |
Erbin |
A |
G |
13: 103,971,466 (GRCm39) |
F717L |
probably benign |
Het |
Gtf3a |
A |
G |
5: 146,892,272 (GRCm39) |
N341S |
probably benign |
Het |
Hltf |
T |
C |
3: 20,113,245 (GRCm39) |
V6A |
probably damaging |
Het |
Itga6 |
T |
A |
2: 71,650,358 (GRCm39) |
Y135N |
probably damaging |
Het |
Krt73 |
T |
C |
15: 101,709,345 (GRCm39) |
Q154R |
possibly damaging |
Het |
Lce1a1 |
C |
T |
3: 92,554,048 (GRCm39) |
C142Y |
unknown |
Het |
Lcorl |
A |
T |
5: 45,904,493 (GRCm39) |
I112N |
probably damaging |
Het |
Ltbp1 |
C |
T |
17: 75,598,312 (GRCm39) |
H916Y |
probably damaging |
Het |
Lypla2 |
T |
C |
4: 135,697,915 (GRCm39) |
|
probably null |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Mmp1a |
T |
A |
9: 7,475,357 (GRCm39) |
D375E |
probably damaging |
Het |
Nlrp14 |
T |
G |
7: 106,781,709 (GRCm39) |
L302R |
probably damaging |
Het |
Npy2r |
T |
G |
3: 82,447,708 (GRCm39) |
T243P |
possibly damaging |
Het |
Or11h4 |
A |
T |
14: 50,973,876 (GRCm39) |
S248T |
probably benign |
Het |
Or51k2 |
T |
C |
7: 103,595,992 (GRCm39) |
V73A |
probably damaging |
Het |
Paqr9 |
A |
T |
9: 95,442,931 (GRCm39) |
H307L |
probably damaging |
Het |
Phc3 |
T |
C |
3: 31,005,078 (GRCm39) |
T172A |
probably damaging |
Het |
Pigs |
A |
G |
11: 78,219,638 (GRCm39) |
T39A |
probably damaging |
Het |
Pik3c2g |
C |
T |
6: 139,801,012 (GRCm39) |
Q386* |
probably null |
Het |
Pira2 |
T |
C |
7: 3,847,417 (GRCm39) |
S91G |
probably benign |
Het |
Plxna2 |
T |
A |
1: 194,482,925 (GRCm39) |
N1539K |
probably damaging |
Het |
Poc5 |
C |
T |
13: 96,547,257 (GRCm39) |
H507Y |
probably damaging |
Het |
Pou2f1 |
A |
T |
1: 165,707,925 (GRCm39) |
|
probably benign |
Het |
Pthlh |
T |
G |
6: 147,158,694 (GRCm39) |
K89Q |
probably damaging |
Het |
Rims4 |
A |
T |
2: 163,706,046 (GRCm39) |
|
probably null |
Het |
Rnf138 |
A |
G |
18: 21,159,143 (GRCm39) |
N188D |
probably damaging |
Het |
Rreb1 |
A |
G |
13: 38,114,822 (GRCm39) |
D727G |
probably benign |
Het |
Sc5d |
T |
G |
9: 42,166,682 (GRCm39) |
K286Q |
probably benign |
Het |
Slc10a5 |
C |
T |
3: 10,400,342 (GRCm39) |
G106D |
possibly damaging |
Het |
Smg6 |
A |
T |
11: 74,929,472 (GRCm39) |
Q967L |
probably damaging |
Het |
Spty2d1 |
C |
T |
7: 46,644,361 (GRCm39) |
R636H |
probably damaging |
Het |
Srms |
A |
T |
2: 180,850,573 (GRCm39) |
Y195* |
probably null |
Het |
Susd4 |
A |
G |
1: 182,719,759 (GRCm39) |
D458G |
probably benign |
Het |
Tecta |
T |
C |
9: 42,270,220 (GRCm39) |
R1363G |
probably damaging |
Het |
Thbs1 |
G |
A |
2: 117,953,060 (GRCm39) |
G890D |
probably damaging |
Het |
Tpp2 |
T |
C |
1: 43,996,606 (GRCm39) |
V317A |
probably benign |
Het |
Ttpa |
T |
C |
4: 20,021,357 (GRCm39) |
V175A |
probably damaging |
Het |
Vps13b |
G |
T |
15: 35,887,343 (GRCm39) |
D3251Y |
probably benign |
Het |
Vps54 |
A |
G |
11: 21,248,810 (GRCm39) |
D441G |
probably benign |
Het |
Zfp804a |
G |
A |
2: 82,087,527 (GRCm39) |
C452Y |
possibly damaging |
Het |
Zxdc |
A |
G |
6: 90,359,461 (GRCm39) |
K698E |
possibly damaging |
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 |
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 |
R2226: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'- TGATGACAGAGAACGGAAAGCCT -3'
(R):5'- CAACATCCATCAAGACTTTCCAG -3'
Sequencing Primer
(F):5'- CGGAAAGCCTTTTGACATACTTCAC -3'
(R):5'- CCATACAAGTGTACAGTATGTGGC -3'
|
Posted On |
2014-10-02 |