Incidental Mutation 'R2994:Zfp629'
| ID |
257143 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp629
|
| Ensembl Gene |
ENSMUSG00000045639 |
| Gene Name |
zinc finger protein 629 |
| Synonyms |
9330199A09Rik |
| MMRRC Submission |
040529-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.220)
|
| Stock # |
R2994 (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 127210228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 527
(E527G)
|
| 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: E527G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000053760
Gene: ENSMUSG00000045639
AA Change: E527G
| 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: E527G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000081612
Gene: ENSMUSG00000045639
AA Change: E527G
| 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: E527G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113903
Gene: ENSMUSG00000045639
AA Change: E527G
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,603,538 (GRCm39) |
S577P |
probably damaging |
Het |
| Agrn |
T |
C |
4: 156,251,785 (GRCm39) |
T1826A |
possibly damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Btnl6 |
C |
A |
17: 34,734,498 (GRCm39) |
R88I |
possibly damaging |
Het |
| Cfap52 |
T |
A |
11: 67,830,617 (GRCm39) |
Y281F |
probably benign |
Het |
| CK137956 |
T |
C |
4: 127,845,300 (GRCm39) |
T148A |
probably benign |
Het |
| Fpr3 |
C |
T |
17: 18,191,130 (GRCm39) |
Q134* |
probably null |
Het |
| Gbp4 |
A |
T |
5: 105,284,886 (GRCm39) |
M1K |
probably null |
Het |
| Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
| Nedd4 |
A |
G |
9: 72,638,185 (GRCm39) |
D440G |
probably benign |
Het |
| Nlgn1 |
C |
T |
3: 25,490,162 (GRCm39) |
D522N |
probably damaging |
Het |
| Oprk1 |
T |
C |
1: 5,672,955 (GRCm39) |
V364A |
probably benign |
Het |
| Or1e35 |
T |
C |
11: 73,797,541 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or5d18 |
A |
G |
2: 87,865,301 (GRCm39) |
Y61H |
probably damaging |
Het |
| Polr1e |
T |
C |
4: 45,027,473 (GRCm39) |
|
probably null |
Het |
| Psmd11 |
T |
C |
11: 80,351,493 (GRCm39) |
Y239H |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,885,610 (GRCm39) |
D576V |
probably damaging |
Het |
| Rundc3a |
C |
T |
11: 102,291,489 (GRCm39) |
T327I |
probably damaging |
Het |
| Sh3rf1 |
A |
G |
8: 61,825,609 (GRCm39) |
T535A |
probably benign |
Het |
| Slc13a2 |
T |
A |
11: 78,295,563 (GRCm39) |
E101V |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,553,802 (GRCm39) |
T406S |
probably benign |
Het |
| Tjp2 |
T |
C |
19: 24,090,215 (GRCm39) |
E609G |
probably damaging |
Het |
| Zfp459 |
G |
A |
13: 67,556,853 (GRCm39) |
P77S |
possibly damaging |
Het |
| Zfp612 |
A |
G |
8: 110,816,049 (GRCm39) |
K380E |
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 |
|
|
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 |
|
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'- GAATCCTCTGGTGCTGCATG -3'
(R):5'- TATAAGTGCTCTGACTGTGGC -3'
Sequencing Primer
(F):5'- CCTCTGGTGCTGCATGAAGATG -3'
(R):5'- GCAAGAGTTTCATTCGCAGC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation