Incidental Mutation 'R1622:Zfp629'
| ID |
174708 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp629
|
| Ensembl Gene |
ENSMUSG00000045639 |
| Gene Name |
zinc finger protein 629 |
| Synonyms |
9330199A09Rik |
| MMRRC Submission |
039659-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.220)
|
| Stock # |
R1622 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
127206203-127214969 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127211012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 266
(C266R)
|
| 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 damaging
Transcript: ENSMUST00000058038
AA Change: C266R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053760
Gene: ENSMUSG00000045639
AA Change: C266R
| 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: ENSMUST00000084564
AA Change: C266R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081612
Gene: ENSMUSG00000045639
AA Change: C266R
| 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: C266R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113903
Gene: ENSMUSG00000045639
AA Change: C266R
| 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 |
0.9584 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldoart2 |
A |
G |
12: 55,612,696 (GRCm39) |
E207G |
probably benign |
Het |
| Arhgap19 |
T |
A |
19: 41,790,412 (GRCm39) |
S19C |
probably benign |
Het |
| Arhgef18 |
T |
A |
8: 3,491,272 (GRCm39) |
D374E |
possibly damaging |
Het |
| Atf2 |
A |
G |
2: 73,684,133 (GRCm39) |
|
probably null |
Het |
| Cadm1 |
A |
G |
9: 47,725,139 (GRCm39) |
N300S |
probably benign |
Het |
| Ccdc159 |
A |
T |
9: 21,840,666 (GRCm39) |
I78F |
possibly damaging |
Het |
| Cdh4 |
T |
C |
2: 179,530,885 (GRCm39) |
I589T |
possibly damaging |
Het |
| Clstn1 |
T |
C |
4: 149,713,864 (GRCm39) |
I182T |
probably damaging |
Het |
| Cnga3 |
T |
A |
1: 37,283,909 (GRCm39) |
|
probably benign |
Het |
| Cntln |
T |
A |
4: 84,981,418 (GRCm39) |
S865R |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,683,516 (GRCm39) |
G1552E |
unknown |
Het |
| Col6a4 |
A |
C |
9: 105,874,334 (GRCm39) |
S2218A |
probably benign |
Het |
| Ephb1 |
T |
C |
9: 101,878,910 (GRCm39) |
T527A |
probably benign |
Het |
| Fkbp15 |
T |
A |
4: 62,241,439 (GRCm39) |
I569F |
possibly damaging |
Het |
| Gabra4 |
A |
G |
5: 71,729,329 (GRCm39) |
S484P |
possibly damaging |
Het |
| Glce |
T |
C |
9: 61,977,843 (GRCm39) |
I14V |
possibly damaging |
Het |
| Gm4884 |
A |
T |
7: 40,692,265 (GRCm39) |
Q78L |
probably damaging |
Het |
| Gpn1 |
A |
G |
5: 31,660,748 (GRCm39) |
T180A |
possibly damaging |
Het |
| Gpr6 |
A |
T |
10: 40,947,288 (GRCm39) |
I98N |
probably damaging |
Het |
| Hcrtr2 |
T |
C |
9: 76,230,722 (GRCm39) |
N22S |
probably benign |
Het |
| Hfm1 |
C |
T |
5: 107,041,389 (GRCm39) |
V665I |
possibly damaging |
Het |
| Il4ra |
T |
A |
7: 125,169,225 (GRCm39) |
I159N |
possibly damaging |
Het |
| Irf8 |
G |
C |
8: 121,466,561 (GRCm39) |
C2S |
possibly damaging |
Het |
| Itih2 |
A |
T |
2: 10,106,890 (GRCm39) |
N701K |
probably benign |
Het |
| Lrrc4b |
GAGAAG |
GAG |
7: 44,111,654 (GRCm39) |
|
probably benign |
Het |
| Mmp10 |
T |
A |
9: 7,504,996 (GRCm39) |
Y263* |
probably null |
Het |
| Morc3 |
T |
A |
16: 93,671,694 (GRCm39) |
M835K |
probably benign |
Het |
| Msh3 |
A |
G |
13: 92,481,462 (GRCm39) |
|
probably null |
Het |
| Ncbp1 |
A |
G |
4: 46,171,963 (GRCm39) |
H777R |
possibly damaging |
Het |
| Nfatc1 |
A |
G |
18: 80,710,182 (GRCm39) |
M514T |
probably damaging |
Het |
| Nlrp3 |
T |
A |
11: 59,439,302 (GRCm39) |
I293N |
probably damaging |
Het |
| Pank2 |
A |
T |
2: 131,115,889 (GRCm39) |
E102D |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,754,505 (GRCm39) |
D175G |
probably benign |
Het |
| Pcdh9 |
T |
C |
14: 94,123,311 (GRCm39) |
D953G |
probably benign |
Het |
| Pibf1 |
G |
A |
14: 99,423,917 (GRCm39) |
V497I |
probably benign |
Het |
| Pkd1 |
G |
A |
17: 24,800,614 (GRCm39) |
M3085I |
probably benign |
Het |
| Prss58 |
A |
T |
6: 40,874,248 (GRCm39) |
C143S |
possibly damaging |
Het |
| Rassf8 |
A |
G |
6: 145,765,829 (GRCm39) |
|
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Spag7 |
T |
A |
11: 70,555,688 (GRCm39) |
D73V |
probably damaging |
Het |
| Sult3a1 |
A |
T |
10: 33,746,246 (GRCm39) |
M189L |
probably benign |
Het |
| Syt4 |
T |
C |
18: 31,577,069 (GRCm39) |
D95G |
probably damaging |
Het |
| Tbc1d8 |
A |
C |
1: 39,419,317 (GRCm39) |
S766A |
probably benign |
Het |
| Tmco5 |
A |
T |
2: 116,710,796 (GRCm39) |
M39L |
probably benign |
Het |
| Trcg1 |
A |
G |
9: 57,155,955 (GRCm39) |
N797S |
possibly damaging |
Het |
| Trim34a |
A |
T |
7: 103,910,545 (GRCm39) |
|
probably null |
Het |
| Ubr5 |
T |
C |
15: 38,009,357 (GRCm39) |
|
probably benign |
Het |
| Urb2 |
A |
G |
8: 124,756,363 (GRCm39) |
N690S |
probably benign |
Het |
| Zfp445 |
A |
G |
9: 122,681,614 (GRCm39) |
Y776H |
possibly damaging |
Het |
| Zfp52 |
G |
A |
17: 21,781,833 (GRCm39) |
M560I |
probably benign |
Het |
| Zfp608 |
A |
G |
18: 55,121,366 (GRCm39) |
S74P |
probably benign |
Het |
| Zscan2 |
A |
G |
7: 80,525,134 (GRCm39) |
K285R |
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 |
|
|
R1526:Zfp629
|
UTSW |
7 |
127,209,931 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
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'- ATCCTCGCGCAAATGTGTCCTC -3'
(R):5'- AGCTCCAATCTAGTGCAGCACCAG -3'
Sequencing Primer
(F):5'- AGCTCTGGATGAAACTCTTGC -3'
(R):5'- TGCGAGAAAGCCTTCACACA -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation