Incidental Mutation 'R1187:Zfp629'
| ID |
102265 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp629
|
| Ensembl Gene |
ENSMUSG00000045639 |
| Gene Name |
zinc finger protein 629 |
| Synonyms |
9330199A09Rik |
| MMRRC Submission |
039259-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.220)
|
| Stock # |
R1187 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
127206203-127214969 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127211059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 250
(K250R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113903
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058038]
[ENSMUST00000084564]
[ENSMUST00000122066]
[ENSMUST00000128731]
[ENSMUST00000131318]
[ENSMUST00000132524]
[ENSMUST00000134446]
[ENSMUST00000152315]
[ENSMUST00000151107]
|
| AlphaFold |
Q6A085 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058038
AA Change: K250R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053760
Gene: ENSMUSG00000045639
AA Change: K250R
| 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: ENSMUST00000084564
AA Change: K250R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000081612
Gene: ENSMUSG00000045639
AA Change: K250R
| 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 damaging
Transcript: ENSMUST00000122066
AA Change: K250R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113903
Gene: ENSMUSG00000045639
AA Change: K250R
| 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: 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151107
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 89.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
T |
11: 9,478,981 (GRCm39) |
M4276I |
probably benign |
Het |
| Apol7b |
A |
T |
15: 77,307,603 (GRCm39) |
F297L |
possibly damaging |
Het |
| Capsl |
C |
T |
15: 9,457,807 (GRCm39) |
R9W |
probably damaging |
Het |
| Catsperb |
T |
C |
12: 101,591,991 (GRCm39) |
V1107A |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,820,656 (GRCm39) |
N132K |
probably damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,715,504 (GRCm39) |
I544M |
probably benign |
Het |
| Cma2 |
T |
C |
14: 56,210,280 (GRCm39) |
V55A |
probably benign |
Het |
| Col10a1 |
A |
T |
10: 34,270,834 (GRCm39) |
I269F |
probably benign |
Het |
| Col26a1 |
G |
A |
5: 136,773,020 (GRCm39) |
H385Y |
probably damaging |
Het |
| Ctdp1 |
A |
G |
18: 80,492,702 (GRCm39) |
Y598H |
probably damaging |
Het |
| Dnajc1 |
A |
G |
2: 18,289,520 (GRCm39) |
S296P |
probably benign |
Het |
| Dvl2 |
A |
T |
11: 69,896,962 (GRCm39) |
T250S |
probably benign |
Het |
| Etv1 |
A |
G |
12: 38,915,563 (GRCm39) |
Y410C |
probably damaging |
Het |
| Krcc1 |
A |
T |
6: 71,261,612 (GRCm39) |
K215* |
probably null |
Het |
| Lrr1 |
A |
T |
12: 69,221,796 (GRCm39) |
T313S |
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,866,039 (GRCm39) |
E1234V |
probably damaging |
Het |
| Mepe |
G |
A |
5: 104,486,114 (GRCm39) |
R418H |
probably damaging |
Het |
| Myrfl |
G |
A |
10: 116,667,447 (GRCm39) |
T331I |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,233,687 (GRCm39) |
W26R |
probably damaging |
Het |
| Nsrp1 |
G |
A |
11: 76,936,853 (GRCm39) |
P448S |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Olfml2a |
A |
G |
2: 38,849,825 (GRCm39) |
N514D |
probably damaging |
Het |
| Or2l5 |
T |
C |
16: 19,333,796 (GRCm39) |
T197A |
probably benign |
Het |
| Or2y17 |
T |
G |
11: 49,231,417 (GRCm39) |
D19E |
probably damaging |
Het |
| Pcdhb1 |
C |
T |
18: 37,398,597 (GRCm39) |
R183C |
probably damaging |
Het |
| Phf14 |
T |
G |
6: 11,941,495 (GRCm39) |
C41G |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,361,447 (GRCm39) |
V499A |
possibly damaging |
Het |
| Plcb4 |
A |
G |
2: 135,810,314 (GRCm39) |
I638V |
probably benign |
Het |
| Ppp4c |
T |
A |
7: 126,385,372 (GRCm39) |
I296F |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,577,610 (GRCm39) |
V2388A |
probably damaging |
Het |
| Rgl1 |
T |
C |
1: 152,420,184 (GRCm39) |
D353G |
probably benign |
Het |
| Rnf19b |
T |
G |
4: 128,969,360 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
C |
T |
2: 112,788,521 (GRCm39) |
D190N |
probably damaging |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Sema3e |
G |
A |
5: 14,282,098 (GRCm39) |
M411I |
probably damaging |
Het |
| Sgsh |
A |
T |
11: 119,237,404 (GRCm39) |
Y403* |
probably null |
Het |
| Sh2d7 |
T |
A |
9: 54,448,471 (GRCm39) |
L164Q |
probably benign |
Het |
| Slfn8 |
A |
T |
11: 82,894,314 (GRCm39) |
V775E |
probably damaging |
Het |
| Smgc |
G |
A |
15: 91,744,798 (GRCm39) |
G287S |
probably damaging |
Het |
| Soat1 |
T |
A |
1: 156,261,745 (GRCm39) |
Y421F |
probably damaging |
Het |
| Sri |
T |
C |
5: 8,109,416 (GRCm39) |
Y52H |
probably damaging |
Het |
| Stat4 |
C |
A |
1: 52,115,836 (GRCm39) |
Q259K |
probably damaging |
Het |
| Trpm5 |
A |
G |
7: 142,628,206 (GRCm39) |
L1023P |
probably damaging |
Het |
| Ush1c |
T |
A |
7: 45,858,338 (GRCm39) |
N650I |
probably benign |
Het |
| Vmn2r8 |
G |
T |
5: 108,951,085 (GRCm39) |
S120* |
probably null |
Het |
| Zbed6 |
G |
A |
1: 133,586,941 (GRCm39) |
T132I |
probably damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp758 |
T |
A |
17: 22,594,171 (GRCm39) |
I187N |
probably benign |
Het |
| Zfp85 |
T |
A |
13: 67,897,835 (GRCm39) |
K79I |
probably damaging |
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 |
|
|
R1217:Zfp629
|
UTSW |
7 |
127,211,916 (GRCm39) |
start gained |
probably benign |
|
|
R1507:Zfp629
|
UTSW |
7 |
127,211,033 (GRCm39) |
nonsense |
probably null |
|
|
R1526:Zfp629
|
UTSW |
7 |
127,209,931 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
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'- TGGATGAAACTCTTGCCGCACTC -3'
(R):5'- CTGGAACAGCACACCTGTAGTCAC -3'
Sequencing Primer
(F):5'- TGCAGCGATAGGGCTTCTC -3'
(R):5'- GCTTTAGCCAGTGGTCCAAAC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation