Incidental Mutation 'R6768:Zfp629'
| ID |
532044 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp629
|
| Ensembl Gene |
ENSMUSG00000045639 |
| Gene Name |
zinc finger protein 629 |
| Synonyms |
9330199A09Rik |
| MMRRC Submission |
044884-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.220)
|
| Stock # |
R6768 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
127206203-127214969 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 127209997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 604
(T604I)
|
| 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: T604I
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000053760
Gene: ENSMUSG00000045639
AA Change: T604I
| 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: T604I
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000081612
Gene: ENSMUSG00000045639
AA Change: T604I
| 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: T604I
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000113903
Gene: ENSMUSG00000045639
AA Change: T604I
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 97.2%
|
| Validation Efficiency |
96% (45/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
G |
A |
12: 113,453,863 (GRCm39) |
V227I |
probably benign |
Het |
| Agtrap |
A |
G |
4: 148,166,067 (GRCm39) |
V106A |
probably benign |
Het |
| Aldh3a2 |
A |
C |
11: 61,144,536 (GRCm39) |
S341A |
probably benign |
Het |
| Bmper |
T |
A |
9: 23,292,749 (GRCm39) |
C353S |
probably damaging |
Het |
| Casq1 |
C |
T |
1: 172,047,245 (GRCm39) |
D5N |
probably benign |
Het |
| Ccin |
G |
A |
4: 43,984,574 (GRCm39) |
R327H |
probably benign |
Het |
| Chuk |
A |
G |
19: 44,085,390 (GRCm39) |
V252A |
probably damaging |
Het |
| Colec11 |
T |
C |
12: 28,645,100 (GRCm39) |
|
probably null |
Het |
| Cpeb3 |
G |
A |
19: 37,002,432 (GRCm39) |
T643I |
possibly damaging |
Het |
| Cstpp1 |
A |
T |
2: 91,252,303 (GRCm39) |
H19Q |
probably damaging |
Het |
| Ctcfl |
A |
G |
2: 172,959,084 (GRCm39) |
V214A |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,220,793 (GRCm39) |
E2199G |
probably damaging |
Het |
| Eno2 |
T |
C |
6: 124,744,711 (GRCm39) |
E45G |
probably damaging |
Het |
| Foxa2 |
T |
C |
2: 147,885,747 (GRCm39) |
H181R |
probably damaging |
Het |
| Fpgs |
A |
G |
2: 32,576,635 (GRCm39) |
S331P |
probably benign |
Het |
| Gm47189 |
A |
G |
14: 41,492,035 (GRCm39) |
S81P |
probably benign |
Het |
| Igsf8 |
C |
A |
1: 172,145,099 (GRCm39) |
P142Q |
probably damaging |
Het |
| Islr |
G |
T |
9: 58,064,893 (GRCm39) |
Q205K |
possibly damaging |
Het |
| Josd1 |
A |
G |
15: 79,561,323 (GRCm39) |
W162R |
probably benign |
Het |
| Lrrc37a |
G |
A |
11: 103,390,949 (GRCm39) |
T1492I |
probably benign |
Het |
| Meox1 |
A |
G |
11: 101,770,161 (GRCm39) |
F189L |
probably damaging |
Het |
| Mtf1 |
G |
A |
4: 124,731,578 (GRCm39) |
D385N |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,314,832 (GRCm39) |
C315* |
probably null |
Het |
| Ncaph2 |
T |
A |
15: 89,248,202 (GRCm39) |
Y166* |
probably null |
Het |
| Nr1i3 |
G |
A |
1: 171,044,966 (GRCm39) |
V270M |
probably damaging |
Het |
| Or11h4b |
A |
G |
14: 50,919,049 (GRCm39) |
L14S |
probably damaging |
Het |
| Or13c7 |
T |
C |
4: 43,854,351 (GRCm39) |
I14T |
probably benign |
Het |
| Panx3 |
T |
C |
9: 37,575,322 (GRCm39) |
K180R |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
| Reln |
A |
C |
5: 22,183,905 (GRCm39) |
V1698G |
probably damaging |
Het |
| Rnf213 |
G |
T |
11: 119,333,062 (GRCm39) |
R2757L |
probably damaging |
Het |
| Scgb2b26 |
G |
T |
7: 33,644,379 (GRCm39) |
T4K |
probably damaging |
Het |
| Sdhb |
A |
G |
4: 140,706,364 (GRCm39) |
E267G |
probably damaging |
Het |
| Sorbs1 |
A |
T |
19: 40,315,991 (GRCm39) |
N383K |
probably damaging |
Het |
| Stk11ip |
T |
A |
1: 75,509,279 (GRCm39) |
C766S |
probably benign |
Het |
| Taf6l |
A |
C |
19: 8,751,913 (GRCm39) |
S592A |
probably damaging |
Het |
| Tmem145 |
G |
A |
7: 25,008,061 (GRCm39) |
G235D |
probably damaging |
Het |
| Tuba3b |
T |
A |
6: 145,564,455 (GRCm39) |
|
probably null |
Het |
| Ubl7 |
A |
T |
9: 57,820,045 (GRCm39) |
E32D |
probably benign |
Het |
| Vmn1r168 |
A |
T |
7: 23,240,460 (GRCm39) |
T106S |
probably damaging |
Het |
| Vmn2r59 |
C |
A |
7: 41,661,392 (GRCm39) |
V808F |
probably benign |
Het |
| Vmn2r61 |
C |
T |
7: 41,949,748 (GRCm39) |
P723S |
probably damaging |
Het |
| Wwc2 |
A |
G |
8: 48,353,826 (GRCm39) |
Y103H |
possibly damaging |
Het |
| Zfp11 |
G |
T |
5: 129,735,415 (GRCm39) |
D15E |
probably benign |
Het |
| Zfp428 |
G |
A |
7: 24,214,908 (GRCm39) |
G162R |
probably damaging |
Het |
| Zfpm1 |
C |
A |
8: 123,061,195 (GRCm39) |
D253E |
probably damaging |
Het |
| Zhx1 |
G |
T |
15: 57,917,499 (GRCm39) |
T249K |
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 |
127,211,059 (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 |
|
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'- TTTTCATTCCCGTGAGTGAGC -3'
(R):5'- TCAGGGTGACAGCTTGCTAG -3'
Sequencing Primer
(F):5'- AGGAAGCTTTCTCCACAGTG -3'
(R):5'- CTAGGGTTTGGGGATCCTGCC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation