Incidental Mutation 'R0020:Zfp629'
| ID |
19032 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp629
|
| Ensembl Gene |
ENSMUSG00000045639 |
| Gene Name |
zinc finger protein 629 |
| Synonyms |
9330199A09Rik |
| MMRRC Submission |
038315-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.220)
|
| Stock # |
R0020 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
127206203-127214969 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 127210341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 489
(E489D)
|
| 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 |
probably benign
Transcript: ENSMUST00000058038
AA Change: E489D
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000053760
Gene: ENSMUSG00000045639
AA Change: E489D
| 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: E489D
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000081612
Gene: ENSMUSG00000045639
AA Change: E489D
| 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: ENSMUST00000122066
AA Change: E489D
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000113903
Gene: ENSMUSG00000045639
AA Change: E489D
| 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 |
|
| Meta Mutation Damage Score |
0.0754 |
| Coding Region Coverage |
- 1x: 82.6%
- 3x: 76.6%
- 10x: 60.3%
- 20x: 42.3%
|
| Validation Efficiency |
92% (100/109) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agfg2 |
C |
T |
5: 137,652,064 (GRCm39) |
V432M |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,755,617 (GRCm39) |
I74K |
probably benign |
Het |
| Atf2 |
T |
C |
2: 73,676,628 (GRCm39) |
D122G |
possibly damaging |
Het |
| Brd10 |
A |
T |
19: 29,693,597 (GRCm39) |
D2032E |
probably damaging |
Het |
| Ccser1 |
C |
A |
6: 61,290,788 (GRCm39) |
T490K |
possibly damaging |
Het |
| Cip2a |
A |
T |
16: 48,821,975 (GRCm39) |
H201L |
probably damaging |
Het |
| Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
| Cnga4 |
G |
T |
7: 105,054,884 (GRCm39) |
R53L |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,739,272 (GRCm39) |
I319F |
probably damaging |
Het |
| Cst11 |
T |
A |
2: 148,613,253 (GRCm39) |
Y24F |
probably damaging |
Het |
| Cstb |
T |
A |
10: 78,263,170 (GRCm39) |
V65E |
probably benign |
Het |
| Cyp2j11 |
G |
A |
4: 96,195,641 (GRCm39) |
H352Y |
probably benign |
Het |
| Ezr |
G |
T |
17: 7,010,126 (GRCm39) |
Q308K |
probably damaging |
Het |
| F3 |
A |
T |
3: 121,525,265 (GRCm39) |
N169Y |
probably damaging |
Het |
| Fbp2 |
A |
T |
13: 63,001,862 (GRCm39) |
F118I |
probably damaging |
Het |
| Fcho1 |
C |
T |
8: 72,169,514 (GRCm39) |
G131R |
probably benign |
Het |
| Fhl5 |
A |
T |
4: 25,200,054 (GRCm39) |
V260E |
probably benign |
Het |
| Kcna10 |
A |
T |
3: 107,102,736 (GRCm39) |
I456F |
probably damaging |
Het |
| Loxl2 |
T |
C |
14: 69,898,242 (GRCm39) |
V232A |
probably damaging |
Het |
| Megf10 |
G |
T |
18: 57,420,965 (GRCm39) |
V868F |
possibly damaging |
Het |
| Megf9 |
A |
G |
4: 70,406,386 (GRCm39) |
V260A |
probably benign |
Het |
| Nampt |
A |
T |
12: 32,891,012 (GRCm39) |
S278C |
probably damaging |
Het |
| Nap1l1 |
A |
C |
10: 111,326,884 (GRCm39) |
E148D |
probably benign |
Het |
| Pamr1 |
C |
T |
2: 102,472,423 (GRCm39) |
T574I |
probably benign |
Het |
| Pde4d |
T |
A |
13: 110,091,104 (GRCm39) |
C35S |
possibly damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,825,765 (GRCm39) |
|
probably benign |
Het |
| Pkd2 |
A |
G |
5: 104,651,382 (GRCm39) |
E910G |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,420,268 (GRCm39) |
Y3002C |
probably damaging |
Het |
| Ppp6r2 |
T |
A |
15: 89,143,342 (GRCm39) |
M163K |
probably damaging |
Het |
| Prdm4 |
T |
C |
10: 85,743,487 (GRCm39) |
N256S |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rimoc1 |
T |
C |
15: 4,021,350 (GRCm39) |
|
probably benign |
Het |
| Scube2 |
A |
G |
7: 109,430,095 (GRCm39) |
|
probably benign |
Het |
| Slco1a8 |
A |
T |
6: 141,918,076 (GRCm39) |
V600E |
possibly damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,896,112 (GRCm39) |
I779F |
probably damaging |
Het |
| Tamalin |
T |
C |
15: 101,128,433 (GRCm39) |
V157A |
probably damaging |
Het |
| Uspl1 |
A |
G |
5: 149,146,589 (GRCm39) |
T447A |
probably damaging |
Het |
| Zfp282 |
T |
G |
6: 47,856,943 (GRCm39) |
W59G |
probably damaging |
Het |
| Zfp746 |
C |
A |
6: 48,041,641 (GRCm39) |
A362S |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2013-03-25 |
Incidental Mutation