Incidental Mutation 'R1526:Zfp629'
ID |
167437 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp629
|
Ensembl Gene |
ENSMUSG00000045639 |
Gene Name |
zinc finger protein 629 |
Synonyms |
9330199A09Rik |
MMRRC Submission |
039566-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.277)
|
Stock # |
R1526 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
127206203-127214969 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 127209931 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 626
(P626Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113903
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058038]
[ENSMUST00000084564]
[ENSMUST00000122066]
[ENSMUST00000128731]
[ENSMUST00000131318]
[ENSMUST00000132524]
[ENSMUST00000134446]
[ENSMUST00000151107]
[ENSMUST00000152315]
|
AlphaFold |
Q6A085 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058038
AA Change: P626Q
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000053760 Gene: ENSMUSG00000045639 AA Change: P626Q
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
43 |
N/A |
INTRINSIC |
low complexity region
|
93 |
104 |
N/A |
INTRINSIC |
ZnF_C2H2
|
149 |
171 |
4.01e-5 |
SMART |
ZnF_C2H2
|
177 |
199 |
2.09e-3 |
SMART |
ZnF_C2H2
|
205 |
227 |
6.08e-5 |
SMART |
ZnF_C2H2
|
233 |
255 |
2.99e-4 |
SMART |
ZnF_C2H2
|
261 |
283 |
1.45e-2 |
SMART |
ZnF_C2H2
|
289 |
311 |
1.13e-4 |
SMART |
ZnF_C2H2
|
317 |
339 |
9.88e-5 |
SMART |
ZnF_C2H2
|
345 |
367 |
9.73e-4 |
SMART |
ZnF_C2H2
|
373 |
395 |
9.22e-5 |
SMART |
ZnF_C2H2
|
401 |
423 |
6.08e-5 |
SMART |
ZnF_C2H2
|
429 |
451 |
7.78e-3 |
SMART |
ZnF_C2H2
|
457 |
479 |
3.95e-4 |
SMART |
ZnF_C2H2
|
485 |
507 |
1.15e-5 |
SMART |
ZnF_C2H2
|
513 |
535 |
2.91e-2 |
SMART |
ZnF_C2H2
|
568 |
590 |
9.58e-3 |
SMART |
ZnF_C2H2
|
661 |
683 |
3.16e-3 |
SMART |
ZnF_C2H2
|
713 |
735 |
9.73e-4 |
SMART |
low complexity region
|
737 |
754 |
N/A |
INTRINSIC |
ZnF_C2H2
|
766 |
788 |
2.57e-3 |
SMART |
ZnF_C2H2
|
840 |
862 |
1.14e0 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084564
AA Change: P626Q
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000081612 Gene: ENSMUSG00000045639 AA Change: P626Q
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
43 |
N/A |
INTRINSIC |
low complexity region
|
93 |
104 |
N/A |
INTRINSIC |
ZnF_C2H2
|
149 |
171 |
4.01e-5 |
SMART |
ZnF_C2H2
|
177 |
199 |
2.09e-3 |
SMART |
ZnF_C2H2
|
205 |
227 |
6.08e-5 |
SMART |
ZnF_C2H2
|
233 |
255 |
2.99e-4 |
SMART |
ZnF_C2H2
|
261 |
283 |
1.45e-2 |
SMART |
ZnF_C2H2
|
289 |
311 |
1.13e-4 |
SMART |
ZnF_C2H2
|
317 |
339 |
9.88e-5 |
SMART |
ZnF_C2H2
|
345 |
367 |
9.73e-4 |
SMART |
ZnF_C2H2
|
373 |
395 |
9.22e-5 |
SMART |
ZnF_C2H2
|
401 |
423 |
6.08e-5 |
SMART |
ZnF_C2H2
|
429 |
451 |
7.78e-3 |
SMART |
ZnF_C2H2
|
457 |
479 |
3.95e-4 |
SMART |
ZnF_C2H2
|
485 |
507 |
1.15e-5 |
SMART |
ZnF_C2H2
|
513 |
535 |
2.91e-2 |
SMART |
ZnF_C2H2
|
568 |
590 |
9.58e-3 |
SMART |
ZnF_C2H2
|
661 |
683 |
3.16e-3 |
SMART |
ZnF_C2H2
|
713 |
735 |
9.73e-4 |
SMART |
low complexity region
|
737 |
754 |
N/A |
INTRINSIC |
ZnF_C2H2
|
766 |
788 |
2.57e-3 |
SMART |
ZnF_C2H2
|
840 |
862 |
1.14e0 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122066
AA Change: P626Q
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000113903 Gene: ENSMUSG00000045639 AA Change: P626Q
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
43 |
N/A |
INTRINSIC |
low complexity region
|
93 |
104 |
N/A |
INTRINSIC |
ZnF_C2H2
|
149 |
171 |
4.01e-5 |
SMART |
ZnF_C2H2
|
177 |
199 |
2.09e-3 |
SMART |
ZnF_C2H2
|
205 |
227 |
6.08e-5 |
SMART |
ZnF_C2H2
|
233 |
255 |
2.99e-4 |
SMART |
ZnF_C2H2
|
261 |
283 |
1.45e-2 |
SMART |
ZnF_C2H2
|
289 |
311 |
1.13e-4 |
SMART |
ZnF_C2H2
|
317 |
339 |
9.88e-5 |
SMART |
ZnF_C2H2
|
345 |
367 |
9.73e-4 |
SMART |
ZnF_C2H2
|
373 |
395 |
9.22e-5 |
SMART |
ZnF_C2H2
|
401 |
423 |
6.08e-5 |
SMART |
ZnF_C2H2
|
429 |
451 |
7.78e-3 |
SMART |
ZnF_C2H2
|
457 |
479 |
3.95e-4 |
SMART |
ZnF_C2H2
|
485 |
507 |
1.15e-5 |
SMART |
ZnF_C2H2
|
513 |
535 |
2.91e-2 |
SMART |
ZnF_C2H2
|
568 |
590 |
9.58e-3 |
SMART |
ZnF_C2H2
|
661 |
683 |
3.16e-3 |
SMART |
ZnF_C2H2
|
713 |
735 |
9.73e-4 |
SMART |
low complexity region
|
737 |
754 |
N/A |
INTRINSIC |
ZnF_C2H2
|
766 |
788 |
2.57e-3 |
SMART |
ZnF_C2H2
|
840 |
862 |
1.14e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128731
|
SMART Domains |
Protein: ENSMUSP00000140505 Gene: ENSMUSG00000045639
Domain | Start | End | E-Value | Type |
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131318
|
SMART Domains |
Protein: ENSMUSP00000116375 Gene: ENSMUSG00000045639
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
43 |
N/A |
INTRINSIC |
low complexity region
|
93 |
104 |
N/A |
INTRINSIC |
ZnF_C2H2
|
149 |
171 |
4.01e-5 |
SMART |
ZnF_C2H2
|
177 |
199 |
2.09e-3 |
SMART |
ZnF_C2H2
|
205 |
227 |
6.08e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132524
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134446
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151107
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152315
|
SMART Domains |
Protein: ENSMUSP00000114772 Gene: ENSMUSG00000045639
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
43 |
N/A |
INTRINSIC |
low complexity region
|
93 |
104 |
N/A |
INTRINSIC |
ZnF_C2H2
|
149 |
171 |
4.01e-5 |
SMART |
ZnF_C2H2
|
177 |
195 |
1.24e2 |
SMART |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asap2 |
G |
T |
12: 21,235,188 (GRCm39) |
A97S |
probably damaging |
Het |
Brd10 |
T |
C |
19: 29,712,545 (GRCm39) |
K785E |
probably damaging |
Het |
C1qtnf1 |
A |
T |
11: 118,334,616 (GRCm39) |
E32V |
possibly damaging |
Het |
Ccdc81 |
A |
G |
7: 89,525,081 (GRCm39) |
L500P |
probably damaging |
Het |
Cdo1 |
T |
C |
18: 46,861,130 (GRCm39) |
E27G |
probably benign |
Het |
Ceacam5 |
G |
A |
7: 17,484,620 (GRCm39) |
G454D |
probably damaging |
Het |
Cemip |
T |
C |
7: 83,600,648 (GRCm39) |
D991G |
probably damaging |
Het |
Cep170 |
A |
C |
1: 176,616,071 (GRCm39) |
I79S |
probably damaging |
Het |
Cep19 |
A |
G |
16: 31,926,039 (GRCm39) |
Q149R |
possibly damaging |
Het |
Cideb |
A |
T |
14: 55,992,619 (GRCm39) |
L99* |
probably null |
Het |
Cntnap5a |
A |
G |
1: 116,356,207 (GRCm39) |
N746S |
probably benign |
Het |
Col12a1 |
T |
C |
9: 79,564,080 (GRCm39) |
N1715S |
probably benign |
Het |
Col3a1 |
T |
C |
1: 45,360,848 (GRCm39) |
S93P |
unknown |
Het |
Csmd3 |
C |
A |
15: 47,449,028 (GRCm39) |
|
probably null |
Het |
Disp3 |
T |
C |
4: 148,344,373 (GRCm39) |
I510V |
probably benign |
Het |
Drosha |
T |
A |
15: 12,914,070 (GRCm39) |
V1115E |
probably damaging |
Het |
Dzip3 |
A |
C |
16: 48,757,369 (GRCm39) |
L888R |
probably damaging |
Het |
Emx2 |
C |
A |
19: 59,452,442 (GRCm39) |
A242E |
probably benign |
Het |
Fto |
G |
A |
8: 92,168,314 (GRCm39) |
E256K |
possibly damaging |
Het |
Gabrb2 |
A |
C |
11: 42,482,715 (GRCm39) |
Y191S |
possibly damaging |
Het |
Gm6526 |
A |
T |
14: 43,987,394 (GRCm39) |
H110L |
probably damaging |
Het |
Grin3b |
T |
A |
10: 79,810,436 (GRCm39) |
N647K |
probably damaging |
Het |
Ifit2 |
T |
G |
19: 34,550,602 (GRCm39) |
S47R |
probably benign |
Het |
Il5ra |
A |
T |
6: 106,712,781 (GRCm39) |
V244E |
possibly damaging |
Het |
Inppl1 |
A |
G |
7: 101,482,153 (GRCm39) |
L141P |
probably benign |
Het |
Iws1 |
A |
G |
18: 32,213,178 (GRCm39) |
D202G |
probably benign |
Het |
Kctd4 |
A |
C |
14: 76,200,523 (GRCm39) |
I165L |
probably benign |
Het |
Lrch3 |
G |
A |
16: 32,770,746 (GRCm39) |
C116Y |
probably damaging |
Het |
Mettl25 |
T |
C |
10: 105,668,844 (GRCm39) |
T93A |
possibly damaging |
Het |
Mgat4d |
A |
G |
8: 84,095,666 (GRCm39) |
I314V |
probably benign |
Het |
Mrgprb4 |
A |
T |
7: 47,848,159 (GRCm39) |
Y256* |
probably null |
Het |
Myo9b |
G |
T |
8: 71,808,408 (GRCm39) |
V1672L |
probably damaging |
Het |
Nek1 |
C |
T |
8: 61,502,975 (GRCm39) |
P449L |
probably benign |
Het |
Nucb2 |
G |
A |
7: 116,123,642 (GRCm39) |
|
probably null |
Het |
Obscn |
T |
C |
11: 58,919,412 (GRCm39) |
Y6864C |
probably damaging |
Het |
Omt2b |
A |
T |
9: 78,235,420 (GRCm39) |
|
probably benign |
Het |
Or2y3 |
T |
A |
17: 38,393,486 (GRCm39) |
I128F |
probably damaging |
Het |
Or4p18 |
C |
T |
2: 88,232,777 (GRCm39) |
C167Y |
probably damaging |
Het |
Or5ac15 |
G |
A |
16: 58,940,293 (GRCm39) |
L47F |
probably damaging |
Het |
Or6c208 |
A |
G |
10: 129,224,176 (GRCm39) |
K225E |
probably benign |
Het |
Otogl |
G |
T |
10: 107,705,387 (GRCm39) |
P647T |
probably damaging |
Het |
Oxnad1 |
A |
G |
14: 31,824,244 (GRCm39) |
D271G |
probably benign |
Het |
Pbx3 |
T |
C |
2: 34,261,776 (GRCm39) |
I53V |
probably damaging |
Het |
Pds5b |
T |
A |
5: 150,639,865 (GRCm39) |
|
probably null |
Het |
Ppp4r3a |
A |
T |
12: 101,007,000 (GRCm39) |
D810E |
probably damaging |
Het |
Ptpro |
A |
T |
6: 137,438,724 (GRCm39) |
D1189V |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,492,002 (GRCm39) |
N3758S |
probably damaging |
Het |
Scarb2 |
G |
A |
5: 92,594,200 (GRCm39) |
T454M |
possibly damaging |
Het |
Sec23a |
A |
C |
12: 59,032,972 (GRCm39) |
|
probably null |
Het |
Spire2 |
C |
T |
8: 124,095,502 (GRCm39) |
A535V |
probably benign |
Het |
Svopl |
A |
T |
6: 38,006,570 (GRCm39) |
F142L |
probably benign |
Het |
Tas2r144 |
T |
C |
6: 42,192,674 (GRCm39) |
I138T |
probably benign |
Het |
Tbc1d15 |
A |
G |
10: 115,039,135 (GRCm39) |
M535T |
probably benign |
Het |
Tnfaip1 |
C |
T |
11: 78,420,971 (GRCm39) |
V30M |
possibly damaging |
Het |
Topaz1 |
T |
A |
9: 122,625,108 (GRCm39) |
W1398R |
probably damaging |
Het |
Tpo |
A |
G |
12: 30,134,694 (GRCm39) |
S755P |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,606,460 (GRCm39) |
S18116R |
probably damaging |
Het |
Vmn2r78 |
A |
G |
7: 86,571,465 (GRCm39) |
|
probably null |
Het |
Wdr49 |
T |
A |
3: 75,304,227 (GRCm39) |
K494M |
probably benign |
Het |
Yeats2 |
A |
G |
16: 20,024,836 (GRCm39) |
M697V |
probably damaging |
Het |
Zfp407 |
G |
A |
18: 84,579,158 (GRCm39) |
P652S |
possibly damaging |
Het |
Zfp462 |
A |
G |
4: 55,009,002 (GRCm39) |
M323V |
probably benign |
Het |
Zfp804a |
A |
T |
2: 82,088,532 (GRCm39) |
Y787F |
probably benign |
Het |
|
Other mutations in Zfp629 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00957:Zfp629
|
APN |
7 |
127,211,896 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01541:Zfp629
|
APN |
7 |
127,211,917 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL02116:Zfp629
|
APN |
7 |
127,211,890 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02134:Zfp629
|
APN |
7 |
127,211,042 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02547:Zfp629
|
APN |
7 |
127,210,846 (GRCm39) |
splice site |
probably null |
|
IGL02858:Zfp629
|
APN |
7 |
127,209,484 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02867:Zfp629
|
APN |
7 |
127,209,203 (GRCm39) |
unclassified |
probably benign |
|
IGL02889:Zfp629
|
APN |
7 |
127,209,203 (GRCm39) |
unclassified |
probably benign |
|
R6768_Zfp629_044
|
UTSW |
7 |
127,209,997 (GRCm39) |
missense |
probably benign |
0.03 |
R0020:Zfp629
|
UTSW |
7 |
127,210,341 (GRCm39) |
missense |
probably benign |
0.02 |
R0137:Zfp629
|
UTSW |
7 |
127,210,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R0219:Zfp629
|
UTSW |
7 |
127,211,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R1061:Zfp629
|
UTSW |
7 |
127,211,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R1182:Zfp629
|
UTSW |
7 |
127,209,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R1187:Zfp629
|
UTSW |
7 |
127,209,401 (GRCm39) |
missense |
probably benign |
|
R1187:Zfp629
|
UTSW |
7 |
127,211,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R1217:Zfp629
|
UTSW |
7 |
127,211,916 (GRCm39) |
start gained |
probably benign |
|
R1507:Zfp629
|
UTSW |
7 |
127,211,033 (GRCm39) |
nonsense |
probably null |
|
R1622:Zfp629
|
UTSW |
7 |
127,211,012 (GRCm39) |
missense |
probably damaging |
1.00 |
R1704:Zfp629
|
UTSW |
7 |
127,210,036 (GRCm39) |
missense |
probably benign |
0.06 |
R1918:Zfp629
|
UTSW |
7 |
127,211,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R2147:Zfp629
|
UTSW |
7 |
127,209,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R2156:Zfp629
|
UTSW |
7 |
127,211,551 (GRCm39) |
missense |
probably benign |
0.00 |
R2258:Zfp629
|
UTSW |
7 |
127,210,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R2994:Zfp629
|
UTSW |
7 |
127,210,228 (GRCm39) |
missense |
probably damaging |
0.99 |
R3735:Zfp629
|
UTSW |
7 |
127,211,950 (GRCm39) |
splice site |
probably benign |
|
R4287:Zfp629
|
UTSW |
7 |
127,211,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R4610:Zfp629
|
UTSW |
7 |
127,211,492 (GRCm39) |
missense |
probably benign |
0.26 |
R4758:Zfp629
|
UTSW |
7 |
127,209,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R4899:Zfp629
|
UTSW |
7 |
127,210,190 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4922:Zfp629
|
UTSW |
7 |
127,211,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R5414:Zfp629
|
UTSW |
7 |
127,210,454 (GRCm39) |
missense |
probably damaging |
0.97 |
R5772:Zfp629
|
UTSW |
7 |
127,210,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R5907:Zfp629
|
UTSW |
7 |
127,209,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R6768:Zfp629
|
UTSW |
7 |
127,209,997 (GRCm39) |
missense |
probably benign |
0.03 |
R7122:Zfp629
|
UTSW |
7 |
127,210,484 (GRCm39) |
missense |
probably damaging |
0.99 |
R7156:Zfp629
|
UTSW |
7 |
127,211,463 (GRCm39) |
nonsense |
probably null |
|
R7407:Zfp629
|
UTSW |
7 |
127,209,415 (GRCm39) |
missense |
probably benign |
|
R7446:Zfp629
|
UTSW |
7 |
127,210,201 (GRCm39) |
missense |
probably benign |
0.00 |
R7780:Zfp629
|
UTSW |
7 |
127,211,601 (GRCm39) |
missense |
probably benign |
0.12 |
R7871:Zfp629
|
UTSW |
7 |
127,211,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R8542:Zfp629
|
UTSW |
7 |
127,210,364 (GRCm39) |
nonsense |
probably null |
|
R9095:Zfp629
|
UTSW |
7 |
127,209,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTTTCTGGTGCTGCAACAGCTC -3'
(R):5'- CCAAACCTCACAAGTGTCTGGTCTG -3'
Sequencing Primer
(F):5'- CACTCTGGGCATTTAAAGGGC -3'
(R):5'- CTGTGGAAAGGGCTTCAATG -3'
|
Posted On |
2014-04-13 |