Incidental Mutation 'R2095:Zfp738'
ID |
232069 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp738
|
Ensembl Gene |
ENSMUSG00000048280 |
Gene Name |
zinc finger protein 738 |
Synonyms |
6720487G11Rik, 3830402I07Rik |
MMRRC Submission |
040099-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R2095 (G1)
|
Quality Score |
210 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
67815560-67831631 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 67819422 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Isoleucine
at position 180
(L180I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135050
(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 |
possibly damaging
Transcript: ENSMUST00000137496
AA Change: L190I
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000121275 Gene: ENSMUSG00000048280 AA Change: L190I
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 damaging
Transcript: ENSMUST00000175821
AA Change: L180I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135050 Gene: ENSMUSG00000048280 AA Change: L180I
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: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
97% (58/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9530002B09Rik |
C |
A |
4: 122,596,151 (GRCm39) |
Y127* |
probably null |
Het |
Adam33 |
C |
T |
2: 130,895,629 (GRCm39) |
G562D |
probably damaging |
Het |
Adh1 |
T |
C |
3: 137,988,557 (GRCm39) |
F177L |
probably damaging |
Het |
Arhgef17 |
T |
C |
7: 100,530,470 (GRCm39) |
T1439A |
probably damaging |
Het |
Arl5c |
C |
T |
11: 97,884,277 (GRCm39) |
E105K |
probably damaging |
Het |
Armc3 |
T |
A |
2: 19,293,740 (GRCm39) |
D510E |
possibly damaging |
Het |
Bbx |
T |
C |
16: 50,045,052 (GRCm39) |
E395G |
possibly damaging |
Het |
Cacna2d2 |
G |
A |
9: 107,404,364 (GRCm39) |
E1087K |
probably benign |
Het |
Casq1 |
T |
C |
1: 172,043,529 (GRCm39) |
N113S |
probably benign |
Het |
Cbfa2t3 |
A |
G |
8: 123,361,727 (GRCm39) |
S432P |
probably benign |
Het |
Ccn2 |
T |
C |
10: 24,472,377 (GRCm39) |
V140A |
probably benign |
Het |
Cd163 |
A |
G |
6: 124,294,781 (GRCm39) |
D615G |
probably damaging |
Het |
Chrnb2 |
A |
T |
3: 89,668,744 (GRCm39) |
D190E |
probably benign |
Het |
Clec9a |
T |
C |
6: 129,393,321 (GRCm39) |
L115P |
possibly damaging |
Het |
Cluh |
C |
T |
11: 74,552,550 (GRCm39) |
R532* |
probably null |
Het |
Cntnap5a |
T |
A |
1: 116,369,990 (GRCm39) |
L869Q |
probably damaging |
Het |
Cyp3a57 |
A |
T |
5: 145,305,944 (GRCm39) |
K143* |
probably null |
Het |
Dcaf12 |
G |
T |
4: 41,294,085 (GRCm39) |
H351N |
probably benign |
Het |
Dtna |
T |
A |
18: 23,702,805 (GRCm39) |
L112Q |
probably damaging |
Het |
Fnta |
G |
A |
8: 26,489,907 (GRCm39) |
Q303* |
probably null |
Het |
Frs2 |
T |
C |
10: 116,910,507 (GRCm39) |
E285G |
probably benign |
Het |
Gabra4 |
T |
C |
5: 71,781,455 (GRCm39) |
I293V |
probably damaging |
Het |
Gm2431 |
A |
T |
7: 141,811,518 (GRCm39) |
C129S |
unknown |
Het |
Gnl2 |
C |
T |
4: 124,928,111 (GRCm39) |
R49C |
probably damaging |
Het |
Helz |
T |
A |
11: 107,536,972 (GRCm39) |
Y275N |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,189,289 (GRCm39) |
E1231G |
probably damaging |
Het |
Kctd11 |
T |
A |
11: 69,770,402 (GRCm39) |
D212V |
probably damaging |
Het |
Klf3 |
T |
A |
5: 64,979,245 (GRCm39) |
M29K |
probably benign |
Het |
Klhl21 |
T |
C |
4: 152,093,850 (GRCm39) |
S151P |
probably benign |
Het |
Lsm14b |
A |
T |
2: 179,673,580 (GRCm39) |
|
probably benign |
Het |
Mlxipl |
T |
C |
5: 135,150,974 (GRCm39) |
|
probably benign |
Het |
Mov10 |
G |
A |
3: 104,708,847 (GRCm39) |
R389C |
probably damaging |
Het |
Msh6 |
A |
G |
17: 88,295,661 (GRCm39) |
M1071V |
possibly damaging |
Het |
Myh8 |
G |
T |
11: 67,177,050 (GRCm39) |
A401S |
probably benign |
Het |
Ndufv3 |
T |
C |
17: 31,746,460 (GRCm39) |
S117P |
possibly damaging |
Het |
Obscn |
A |
T |
11: 58,984,410 (GRCm39) |
|
probably null |
Het |
Or1e22 |
T |
A |
11: 73,377,420 (GRCm39) |
T77S |
probably damaging |
Het |
Or2l13 |
T |
C |
16: 19,305,681 (GRCm39) |
I31T |
probably benign |
Het |
Or4c11c |
T |
C |
2: 88,661,634 (GRCm39) |
Y58H |
probably damaging |
Het |
Or8g50 |
T |
A |
9: 39,648,557 (GRCm39) |
Y149N |
probably damaging |
Het |
Pcdhb17 |
T |
A |
18: 37,619,375 (GRCm39) |
D388E |
probably benign |
Het |
Pgm3 |
T |
C |
9: 86,438,394 (GRCm39) |
T423A |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
S1pr5 |
T |
A |
9: 21,156,154 (GRCm39) |
T91S |
probably benign |
Het |
Sgcz |
T |
C |
8: 38,007,546 (GRCm39) |
|
probably benign |
Het |
Slc33a1 |
A |
G |
3: 63,871,376 (GRCm39) |
L79P |
probably damaging |
Het |
Slco2a1 |
A |
G |
9: 102,954,167 (GRCm39) |
T383A |
probably benign |
Het |
Slit1 |
G |
A |
19: 41,594,819 (GRCm39) |
R1184W |
probably damaging |
Het |
Spta1 |
T |
A |
1: 174,071,764 (GRCm39) |
M2248K |
possibly damaging |
Het |
Stub1 |
A |
G |
17: 26,049,864 (GRCm39) |
Y304H |
probably damaging |
Het |
Taar7e |
T |
A |
10: 23,913,949 (GRCm39) |
Y146* |
probably null |
Het |
Tbc1d1 |
C |
T |
5: 64,473,844 (GRCm39) |
S660L |
probably benign |
Het |
Tcea2 |
C |
A |
2: 181,328,725 (GRCm39) |
F259L |
probably damaging |
Het |
Tcp11l1 |
T |
A |
2: 104,512,185 (GRCm39) |
K482N |
probably damaging |
Het |
Trpv6 |
C |
T |
6: 41,598,690 (GRCm39) |
R645Q |
probably damaging |
Het |
Uaca |
T |
A |
9: 60,748,125 (GRCm39) |
S30T |
probably benign |
Het |
Ubap2 |
C |
G |
4: 41,206,901 (GRCm39) |
V492L |
possibly damaging |
Het |
Ube3c |
T |
C |
5: 29,873,038 (GRCm39) |
F1026S |
probably damaging |
Het |
Vmn2r8 |
T |
G |
5: 108,956,487 (GRCm39) |
D45A |
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 |
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 |
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'- TGACAGAGAACGGAAAGCCT -3'
(R):5'- AGTCCATCATTAAGTTCTGAAGAGAA -3'
Sequencing Primer
(F):5'- TGCCACATACTTCACACTTGTAAGG -3'
(R):5'- TCTGAAGAGAACAGAATTCATGCAG -3'
|
Posted On |
2014-09-18 |