Incidental Mutation 'R5054:Zfp985'
| ID |
458156 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp985
|
| Ensembl Gene |
ENSMUSG00000065999 |
| Gene Name |
zinc finger protein 985 |
| Synonyms |
Gm13154 |
| MMRRC Submission |
042644-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.624)
|
| Stock # |
R5054 (G1)
|
| Quality Score |
76 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
147637734-147669655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 147667438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 102
(Y102F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081742]
[ENSMUST00000139784]
[ENSMUST00000143885]
|
| AlphaFold |
A2A7A5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081742
AA Change: Y102F
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000080438
Gene: ENSMUSG00000065999
AA Change: Y102F
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
72 |
4.36e-15 |
SMART |
|
ZnF_C2H2
|
238 |
260 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
266 |
288 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
294 |
316 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
322 |
344 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
350 |
372 |
7.67e-2 |
SMART |
|
ZnF_C2H2
|
378 |
400 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
406 |
428 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
434 |
456 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
462 |
484 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
490 |
512 |
2.09e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139784
AA Change: Y102F
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123296
Gene: ENSMUSG00000065999
AA Change: Y102F
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
72 |
4.36e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143885
|
| SMART Domains |
Protein: ENSMUSP00000121177
Gene: ENSMUSG00000065999
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
72 |
4.36e-15 |
SMART |
|
| Meta Mutation Damage Score |
0.2193 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
94% (67/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
A |
G |
13: 59,837,315 (GRCm39) |
Y257H |
probably damaging |
Het |
| Adam28 |
C |
T |
14: 68,855,164 (GRCm39) |
C659Y |
probably damaging |
Het |
| Adamtsl2 |
G |
A |
2: 26,991,732 (GRCm39) |
E627K |
probably damaging |
Het |
| Atad5 |
T |
A |
11: 79,985,502 (GRCm39) |
S196R |
probably benign |
Het |
| Bcam |
T |
A |
7: 19,490,785 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,962,320 (GRCm39) |
H3978R |
probably damaging |
Het |
| Btbd7 |
T |
C |
12: 102,804,471 (GRCm39) |
I190V |
probably benign |
Het |
| Ccdc8 |
T |
C |
7: 16,728,970 (GRCm39) |
V153A |
probably damaging |
Het |
| Cyp2a5 |
C |
G |
7: 26,540,529 (GRCm39) |
R68G |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,815,105 (GRCm39) |
Y1254C |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,085,007 (GRCm39) |
E2794G |
possibly damaging |
Het |
| Dytn |
C |
A |
1: 63,700,318 (GRCm39) |
V271L |
possibly damaging |
Het |
| Eif1ad15 |
T |
C |
12: 88,288,071 (GRCm39) |
I61V |
probably benign |
Het |
| Eif2s2 |
A |
C |
2: 154,734,590 (GRCm39) |
|
probably null |
Het |
| Fndc7 |
A |
G |
3: 108,788,663 (GRCm39) |
S193P |
probably damaging |
Het |
| Fzr1 |
G |
A |
10: 81,207,253 (GRCm39) |
|
probably benign |
Het |
| Gm17472 |
T |
C |
6: 42,957,938 (GRCm39) |
I69T |
probably damaging |
Het |
| Gmppa |
C |
A |
1: 75,416,015 (GRCm39) |
Y137* |
probably null |
Het |
| Gpr45 |
A |
G |
1: 43,071,809 (GRCm39) |
I151V |
probably benign |
Het |
| H1f0 |
G |
A |
15: 78,912,973 (GRCm39) |
A18T |
probably damaging |
Het |
| Hbb-bh1 |
C |
T |
7: 103,491,063 (GRCm39) |
V114I |
probably benign |
Het |
| Impa2 |
C |
A |
18: 67,439,797 (GRCm39) |
P98Q |
probably damaging |
Het |
| Kazn |
T |
C |
4: 141,835,957 (GRCm39) |
N573D |
unknown |
Het |
| Kcna2 |
A |
T |
3: 107,011,656 (GRCm39) |
D79V |
probably damaging |
Het |
| Kcna7 |
G |
A |
7: 45,056,015 (GRCm39) |
R77H |
probably damaging |
Het |
| Kif13a |
A |
G |
13: 46,956,122 (GRCm39) |
Y561H |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Klra1 |
T |
A |
6: 130,352,247 (GRCm39) |
Q165L |
probably damaging |
Het |
| Mat2b |
T |
A |
11: 40,570,869 (GRCm39) |
R318S |
probably damaging |
Het |
| Mgat4d |
G |
A |
8: 84,094,837 (GRCm39) |
|
probably null |
Het |
| Mtor |
T |
A |
4: 148,641,312 (GRCm39) |
|
probably null |
Het |
| Nostrin |
A |
T |
2: 69,006,057 (GRCm39) |
Q247L |
possibly damaging |
Het |
| Obi1 |
C |
T |
14: 104,745,466 (GRCm39) |
G70E |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,964,443 (GRCm39) |
E3033G |
probably damaging |
Het |
| Pam |
C |
A |
1: 97,749,642 (GRCm39) |
D839Y |
probably damaging |
Het |
| Pds5a |
A |
G |
5: 65,795,157 (GRCm39) |
V693A |
probably damaging |
Het |
| Pigo |
A |
T |
4: 43,021,337 (GRCm39) |
L535Q |
probably damaging |
Het |
| Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
| Ptar1 |
G |
T |
19: 23,671,729 (GRCm39) |
R44L |
probably damaging |
Het |
| Rad51c |
T |
C |
11: 87,288,580 (GRCm39) |
H201R |
probably benign |
Het |
| Rims2 |
A |
T |
15: 39,381,265 (GRCm39) |
|
probably null |
Het |
| Rpl22l1 |
T |
G |
3: 28,860,985 (GRCm39) |
S67A |
possibly damaging |
Het |
| Rps10 |
A |
G |
17: 27,849,454 (GRCm39) |
S143P |
probably damaging |
Het |
| Rundc1 |
T |
C |
11: 101,315,967 (GRCm39) |
V13A |
probably benign |
Het |
| Sephs2 |
C |
A |
7: 126,872,564 (GRCm39) |
M176I |
probably benign |
Het |
| Serpina16 |
C |
T |
12: 103,641,189 (GRCm39) |
V179I |
probably benign |
Het |
| Serpini2 |
T |
A |
3: 75,166,784 (GRCm39) |
T158S |
probably damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,072,979 (GRCm39) |
R701G |
probably damaging |
Het |
| Slc1a6 |
A |
G |
10: 78,650,436 (GRCm39) |
E558G |
probably damaging |
Het |
| Ssx2ip |
T |
C |
3: 146,136,672 (GRCm39) |
|
probably benign |
Het |
| Tbr1 |
A |
T |
2: 61,636,346 (GRCm39) |
I241F |
possibly damaging |
Het |
| Tgfa |
G |
C |
6: 86,247,064 (GRCm39) |
|
probably null |
Het |
| Tlr12 |
T |
A |
4: 128,511,063 (GRCm39) |
K396* |
probably null |
Het |
| Tmppe |
A |
G |
9: 114,235,026 (GRCm39) |
I442V |
probably benign |
Het |
| Tubb3 |
T |
C |
8: 124,147,607 (GRCm39) |
V180A |
probably damaging |
Het |
| Vmn1r222 |
A |
G |
13: 23,416,901 (GRCm39) |
V104A |
probably damaging |
Het |
| Vmn2r95 |
G |
T |
17: 18,671,708 (GRCm39) |
V482L |
possibly damaging |
Het |
| Zfp184 |
G |
T |
13: 22,143,452 (GRCm39) |
R386L |
possibly damaging |
Het |
| Zfp444 |
T |
A |
7: 6,192,792 (GRCm39) |
V270E |
probably damaging |
Het |
|
| Other mutations in Zfp985 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0098:Zfp985
|
UTSW |
4 |
147,661,566 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0324:Zfp985
|
UTSW |
4 |
147,667,314 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1307:Zfp985
|
UTSW |
4 |
147,667,704 (GRCm39) |
missense |
probably benign |
|
|
R1594:Zfp985
|
UTSW |
4 |
147,667,537 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1657:Zfp985
|
UTSW |
4 |
147,668,567 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1667:Zfp985
|
UTSW |
4 |
147,668,407 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1761:Zfp985
|
UTSW |
4 |
147,668,502 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1858:Zfp985
|
UTSW |
4 |
147,667,315 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2509:Zfp985
|
UTSW |
4 |
147,667,443 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2510:Zfp985
|
UTSW |
4 |
147,667,443 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2847:Zfp985
|
UTSW |
4 |
147,667,468 (GRCm39) |
nonsense |
probably null |
|
|
R2848:Zfp985
|
UTSW |
4 |
147,667,468 (GRCm39) |
nonsense |
probably null |
|
|
R4245:Zfp985
|
UTSW |
4 |
147,667,396 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4260:Zfp985
|
UTSW |
4 |
147,668,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4434:Zfp985
|
UTSW |
4 |
147,668,368 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4480:Zfp985
|
UTSW |
4 |
147,668,536 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4512:Zfp985
|
UTSW |
4 |
147,668,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4514:Zfp985
|
UTSW |
4 |
147,668,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4528:Zfp985
|
UTSW |
4 |
147,667,347 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4836:Zfp985
|
UTSW |
4 |
147,668,612 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4884:Zfp985
|
UTSW |
4 |
147,667,801 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5106:Zfp985
|
UTSW |
4 |
147,668,612 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5205:Zfp985
|
UTSW |
4 |
147,667,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5266:Zfp985
|
UTSW |
4 |
147,667,289 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5468:Zfp985
|
UTSW |
4 |
147,667,702 (GRCm39) |
missense |
probably benign |
|
|
R5533:Zfp985
|
UTSW |
4 |
147,667,440 (GRCm39) |
nonsense |
probably null |
|
|
R6282:Zfp985
|
UTSW |
4 |
147,667,805 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6303:Zfp985
|
UTSW |
4 |
147,668,232 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6609:Zfp985
|
UTSW |
4 |
147,668,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6609:Zfp985
|
UTSW |
4 |
147,667,578 (GRCm39) |
missense |
probably benign |
|
|
R6722:Zfp985
|
UTSW |
4 |
147,667,528 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6858:Zfp985
|
UTSW |
4 |
147,667,764 (GRCm39) |
nonsense |
probably null |
|
|
R7064:Zfp985
|
UTSW |
4 |
147,667,573 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7216:Zfp985
|
UTSW |
4 |
147,667,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7471:Zfp985
|
UTSW |
4 |
147,667,388 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7583:Zfp985
|
UTSW |
4 |
147,667,946 (GRCm39) |
nonsense |
probably null |
|
|
R7685:Zfp985
|
UTSW |
4 |
147,667,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8242:Zfp985
|
UTSW |
4 |
147,668,639 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8504:Zfp985
|
UTSW |
4 |
147,667,883 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8780:Zfp985
|
UTSW |
4 |
147,668,412 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8785:Zfp985
|
UTSW |
4 |
147,668,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9485:Zfp985
|
UTSW |
4 |
147,668,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9513:Zfp985
|
UTSW |
4 |
147,667,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9631:Zfp985
|
UTSW |
4 |
147,665,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9722:Zfp985
|
UTSW |
4 |
147,667,618 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9786:Zfp985
|
UTSW |
4 |
147,668,047 (GRCm39) |
missense |
probably benign |
|
|
X0050:Zfp985
|
UTSW |
4 |
147,667,728 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATAAGCTCACTGATTATTGAGTCCC -3'
(R):5'- CAAATTCTGCATTTCGCTTGTG -3'
Sequencing Primer
(F):5'- GTAATTCATGTCATCTCTAATTGCCC -3'
(R):5'- CTTCTGCATGTGGATTCC -3'
|
| Posted On |
2017-02-17 |
Incidental Mutation