Incidental Mutation 'R6599:Zfp979'
| ID |
525105 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp979
|
| Ensembl Gene |
ENSMUSG00000066000 |
| Gene Name |
zinc finger protein 979 |
| Synonyms |
Ssm1, 2610305D13Rik |
| MMRRC Submission |
044723-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R6599 (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 T
at 147698083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 209
(C209S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101345
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037565]
[ENSMUST00000105720]
[ENSMUST00000133006]
|
| AlphaFold |
A2A799 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037565
AA Change: C209S
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000038153
Gene: ENSMUSG00000066000
AA Change: C209S
| 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: ENSMUST00000105720
AA Change: C209S
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000101345
Gene: ENSMUSG00000066000
AA Change: C209S
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.9%
|
| Validation Efficiency |
94% (32/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
C |
3: 137,882,250 (GRCm39) |
H150R |
probably benign |
Het |
| Acbd5 |
C |
T |
2: 22,959,092 (GRCm39) |
|
probably benign |
Het |
| Adcyap1r1 |
G |
A |
6: 55,456,979 (GRCm39) |
V237M |
probably damaging |
Het |
| Akr1c6 |
T |
G |
13: 4,499,318 (GRCm39) |
|
probably null |
Het |
| Ccdc7b |
T |
A |
8: 129,893,462 (GRCm39) |
F96L |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,315,484 (GRCm39) |
H2983R |
possibly damaging |
Het |
| Dhx40 |
T |
A |
11: 86,695,175 (GRCm39) |
I112L |
possibly damaging |
Het |
| Dnmbp |
A |
T |
19: 43,845,025 (GRCm39) |
D1070E |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ep300 |
G |
C |
15: 81,470,914 (GRCm39) |
D29H |
unknown |
Het |
| Exoc3 |
T |
C |
13: 74,337,277 (GRCm39) |
|
probably null |
Het |
| Fcsk |
A |
T |
8: 111,619,915 (GRCm39) |
|
probably null |
Het |
| Gm6401 |
C |
A |
14: 41,788,821 (GRCm39) |
E83* |
probably null |
Het |
| Gm8267 |
G |
T |
14: 44,955,367 (GRCm39) |
T218K |
possibly damaging |
Het |
| H1f3 |
T |
C |
13: 23,739,451 (GRCm39) |
|
probably null |
Het |
| Hif3a |
T |
A |
7: 16,776,530 (GRCm39) |
D470V |
possibly damaging |
Het |
| Igf2r |
T |
C |
17: 12,917,505 (GRCm39) |
S1526G |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,299,749 (GRCm39) |
D3101G |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,342,544 (GRCm39) |
|
probably null |
Het |
| Mthfs |
G |
A |
9: 89,121,961 (GRCm39) |
G149D |
probably damaging |
Het |
| Nnmt |
T |
C |
9: 48,514,669 (GRCm39) |
D116G |
probably benign |
Het |
| Nqo2 |
T |
C |
13: 34,163,539 (GRCm39) |
F22S |
probably damaging |
Het |
| Or1e29 |
T |
A |
11: 73,667,506 (GRCm39) |
M216L |
probably benign |
Het |
| Or7e175 |
T |
C |
9: 20,049,239 (GRCm39) |
S276P |
probably damaging |
Het |
| Parm1 |
T |
C |
5: 91,741,718 (GRCm39) |
S29P |
possibly damaging |
Het |
| Prokr2 |
C |
T |
2: 132,215,469 (GRCm39) |
V331M |
possibly damaging |
Het |
| Ptch1 |
T |
A |
13: 63,670,918 (GRCm39) |
I871F |
probably damaging |
Het |
| Rps6ka5 |
C |
A |
12: 100,564,168 (GRCm39) |
G227V |
probably damaging |
Het |
| Tcaim |
C |
T |
9: 122,663,844 (GRCm39) |
Q445* |
probably null |
Het |
| Trappc14 |
G |
T |
5: 138,261,720 (GRCm39) |
|
probably null |
Het |
| Trpc7 |
T |
C |
13: 56,958,193 (GRCm39) |
|
probably null |
Het |
| Ubxn7 |
A |
G |
16: 32,203,743 (GRCm39) |
E465G |
probably damaging |
Het |
| Unk |
G |
A |
11: 115,938,628 (GRCm39) |
R77Q |
probably damaging |
Het |
| Vmn1r226 |
A |
T |
17: 20,908,551 (GRCm39) |
N261I |
probably benign |
Het |
| Vmn1r87 |
T |
A |
7: 12,865,886 (GRCm39) |
K134* |
probably null |
Het |
| Vmn2r10 |
T |
A |
5: 109,143,944 (GRCm39) |
I669L |
probably benign |
Het |
| Vmn2r115 |
A |
G |
17: 23,565,006 (GRCm39) |
I298V |
probably benign |
Het |
| Yipf2 |
T |
C |
9: 21,501,144 (GRCm39) |
K85E |
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 |
|
|
R6598:Zfp979
|
UTSW |
4 |
147,698,223 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- CCTGTATGAATTCTCTGATGCATAC -3'
(R):5'- TCGGACCACTAAAGAAGTTTGC -3'
Sequencing Primer
(F):5'- ctgatggataccaagatagaact -3'
(R):5'- AGACTGTGTAAACCGTTTAAAGGTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation