Incidental Mutation 'R6598:Zfp979'
| ID |
525029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp979
|
| Ensembl Gene |
ENSMUSG00000066000 |
| Gene Name |
zinc finger protein 979 |
| Synonyms |
Ssm1, 2610305D13Rik |
| MMRRC Submission |
044722-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R6598 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
147696394-147726970 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 147698223 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 162
(L162P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101345
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037565]
[ENSMUST00000105720]
[ENSMUST00000133006]
|
| AlphaFold |
A2A799 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037565
AA Change: L162P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000038153
Gene: ENSMUSG00000066000
AA Change: L162P
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
28 |
88 |
2.06e-16 |
SMART |
|
ZnF_C2H2
|
257 |
279 |
2.06e1 |
SMART |
|
ZnF_C2H2
|
285 |
307 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
313 |
335 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
341 |
363 |
1.4e1 |
SMART |
|
ZnF_C2H2
|
369 |
391 |
9.08e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105720
AA Change: L162P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101345
Gene: ENSMUSG00000066000
AA Change: L162P
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
28 |
88 |
2.06e-16 |
SMART |
|
ZnF_C2H2
|
257 |
279 |
2.06e1 |
SMART |
|
ZnF_C2H2
|
285 |
307 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
313 |
335 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
341 |
363 |
1.4e1 |
SMART |
|
ZnF_C2H2
|
369 |
391 |
9.08e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133006
|
| SMART Domains |
Protein: ENSMUSP00000114677
Gene: ENSMUSG00000066000
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
28 |
88 |
2.06e-16 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
A |
T |
14: 56,007,502 (GRCm39) |
S943T |
probably benign |
Het |
| Adgrv1 |
T |
G |
13: 81,654,298 (GRCm39) |
E2911A |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,430,896 (GRCm39) |
F819S |
probably damaging |
Het |
| Cald1 |
G |
A |
6: 34,723,575 (GRCm39) |
|
probably null |
Het |
| Clca3a2 |
G |
T |
3: 144,792,246 (GRCm39) |
Y338* |
probably null |
Het |
| Cmya5 |
C |
T |
13: 93,226,316 (GRCm39) |
G2924D |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,877,611 (GRCm39) |
L2122Q |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,909,161 (GRCm39) |
F1258S |
probably benign |
Het |
| Ddx39a |
T |
C |
8: 84,449,556 (GRCm39) |
V387A |
probably benign |
Het |
| Dscam |
A |
G |
16: 96,620,984 (GRCm39) |
C575R |
probably damaging |
Het |
| Dyrk4 |
C |
T |
6: 126,853,289 (GRCm39) |
V632M |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,609,902 (GRCm39) |
S111P |
possibly damaging |
Het |
| Fbxo40 |
A |
T |
16: 36,789,376 (GRCm39) |
L578Q |
probably damaging |
Het |
| Frem1 |
A |
T |
4: 82,932,065 (GRCm39) |
F212Y |
probably damaging |
Het |
| Golm2 |
A |
T |
2: 121,763,966 (GRCm39) |
E247D |
probably damaging |
Het |
| Golm2 |
G |
A |
2: 121,763,967 (GRCm39) |
E383K |
probably damaging |
Het |
| Icos |
T |
G |
1: 61,033,856 (GRCm39) |
I162S |
possibly damaging |
Het |
| Kcnj8 |
G |
T |
6: 142,515,959 (GRCm39) |
N49K |
probably damaging |
Het |
| Ldhb |
A |
T |
6: 142,436,326 (GRCm39) |
M281K |
possibly damaging |
Het |
| Med17 |
T |
C |
9: 15,182,996 (GRCm39) |
K350E |
probably benign |
Het |
| Mpo |
A |
T |
11: 87,690,798 (GRCm39) |
N412I |
probably benign |
Het |
| Mrps24 |
A |
T |
11: 5,654,713 (GRCm39) |
D80E |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,153,516 (GRCm39) |
D134G |
probably damaging |
Het |
| Ndufs1 |
T |
C |
1: 63,204,109 (GRCm39) |
Q140R |
probably null |
Het |
| Nsd1 |
T |
C |
13: 55,441,515 (GRCm39) |
V1662A |
possibly damaging |
Het |
| Or10ag53 |
C |
T |
2: 87,083,100 (GRCm39) |
T273I |
probably damaging |
Het |
| Or5p51 |
G |
A |
7: 107,444,470 (GRCm39) |
L157F |
probably benign |
Het |
| Or6c88 |
C |
A |
10: 129,407,238 (GRCm39) |
T238N |
probably damaging |
Het |
| Polq |
G |
A |
16: 36,881,993 (GRCm39) |
A1386T |
probably benign |
Het |
| Ppil1 |
C |
A |
17: 29,480,852 (GRCm39) |
V24F |
probably benign |
Het |
| Prim1 |
G |
T |
10: 127,856,049 (GRCm39) |
V165L |
possibly damaging |
Het |
| Slc12a2 |
G |
A |
18: 58,031,145 (GRCm39) |
V317I |
probably benign |
Het |
| Tbpl1 |
A |
G |
10: 22,583,748 (GRCm39) |
V103A |
probably damaging |
Het |
| Tmprss11c |
C |
T |
5: 86,437,092 (GRCm39) |
E10K |
probably benign |
Het |
| Unc80 |
T |
G |
1: 66,507,699 (GRCm39) |
|
probably null |
Het |
| Uqcrc1 |
G |
T |
9: 108,776,690 (GRCm39) |
V30F |
possibly damaging |
Het |
| Vmn1r88 |
T |
C |
7: 12,912,150 (GRCm39) |
Y169H |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,404,626 (GRCm39) |
|
probably benign |
Het |
| Zc3h13 |
A |
G |
14: 75,569,623 (GRCm39) |
D1490G |
probably damaging |
Het |
| Zer1 |
T |
A |
2: 30,003,286 (GRCm39) |
S44C |
probably damaging |
Het |
| Zfp106 |
T |
A |
2: 120,365,541 (GRCm39) |
K289* |
probably null |
Het |
| Zfp618 |
A |
G |
4: 63,007,636 (GRCm39) |
Y155C |
probably damaging |
Het |
|
| Other mutations in Zfp979 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01285:Zfp979
|
APN |
4 |
147,699,853 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01865:Zfp979
|
APN |
4 |
147,699,774 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02336:Zfp979
|
APN |
4 |
147,699,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0336:Zfp979
|
UTSW |
4 |
147,697,592 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1365:Zfp979
|
UTSW |
4 |
147,697,681 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1440:Zfp979
|
UTSW |
4 |
147,698,493 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1714:Zfp979
|
UTSW |
4 |
147,698,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1796:Zfp979
|
UTSW |
4 |
147,697,740 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2155:Zfp979
|
UTSW |
4 |
147,697,915 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3735:Zfp979
|
UTSW |
4 |
147,697,939 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3963:Zfp979
|
UTSW |
4 |
147,697,588 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3972:Zfp979
|
UTSW |
4 |
147,702,876 (GRCm39) |
nonsense |
probably null |
|
|
R4471:Zfp979
|
UTSW |
4 |
147,697,913 (GRCm39) |
nonsense |
probably null |
|
|
R4983:Zfp979
|
UTSW |
4 |
147,698,371 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5310:Zfp979
|
UTSW |
4 |
147,698,375 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5805:Zfp979
|
UTSW |
4 |
147,698,067 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5861:Zfp979
|
UTSW |
4 |
147,697,966 (GRCm39) |
nonsense |
probably null |
|
|
R6599:Zfp979
|
UTSW |
4 |
147,698,083 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6925:Zfp979
|
UTSW |
4 |
147,697,999 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7684:Zfp979
|
UTSW |
4 |
147,697,799 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7801:Zfp979
|
UTSW |
4 |
147,698,435 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8035:Zfp979
|
UTSW |
4 |
147,697,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8086:Zfp979
|
UTSW |
4 |
147,698,004 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8244:Zfp979
|
UTSW |
4 |
147,697,933 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8369:Zfp979
|
UTSW |
4 |
147,697,548 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8880:Zfp979
|
UTSW |
4 |
147,697,836 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8887:Zfp979
|
UTSW |
4 |
147,698,219 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8988:Zfp979
|
UTSW |
4 |
147,697,984 (GRCm39) |
missense |
probably benign |
|
|
R9016:Zfp979
|
UTSW |
4 |
147,697,504 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9356:Zfp979
|
UTSW |
4 |
147,698,358 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTGCTGACTTTGAAGATTGTC -3'
(R):5'- ACATTTTCAATGAGCATGGGC -3'
Sequencing Primer
(F):5'- CTGACTTTGAAGATTGTCACTCTGAG -3'
(R):5'- TCAATGAGCATGGGCATATCC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation