Incidental Mutation 'R6282:Zfp985'
| ID |
507990 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp985
|
| Ensembl Gene |
ENSMUSG00000065999 |
| Gene Name |
zinc finger protein 985 |
| Synonyms |
Gm13154 |
| MMRRC Submission |
044452-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.624)
|
| Stock # |
R6282 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
147637734-147669655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 147667805 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 224
(H224Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081742]
[ENSMUST00000139784]
[ENSMUST00000143885]
|
| AlphaFold |
A2A7A5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081742
AA Change: H224Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000080438
Gene: ENSMUSG00000065999
AA Change: H224Q
| 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 benign
Transcript: ENSMUST00000139784
|
| SMART Domains |
Protein: ENSMUSP00000123296
Gene: ENSMUSG00000065999
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
98% (45/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
A |
T |
2: 30,690,781 (GRCm39) |
L185Q |
possibly damaging |
Het |
| Abca6 |
A |
T |
11: 110,099,650 (GRCm39) |
C966S |
probably damaging |
Het |
| Atp13a4 |
A |
T |
16: 29,252,822 (GRCm39) |
I708N |
probably benign |
Het |
| Axin1 |
C |
G |
17: 26,362,011 (GRCm39) |
D118E |
probably damaging |
Het |
| Bace2 |
A |
T |
16: 97,216,297 (GRCm39) |
I297F |
probably damaging |
Het |
| Ccdc30 |
T |
A |
4: 119,181,214 (GRCm39) |
D649V |
probably damaging |
Het |
| Cd180 |
G |
A |
13: 102,830,265 (GRCm39) |
A20T |
possibly damaging |
Het |
| Cdk18 |
T |
C |
1: 132,047,758 (GRCm39) |
D112G |
probably damaging |
Het |
| Cuedc1 |
A |
G |
11: 88,074,228 (GRCm39) |
N254S |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,542,760 (GRCm39) |
H2470R |
probably damaging |
Het |
| Drap1 |
G |
A |
19: 5,474,464 (GRCm39) |
|
probably null |
Het |
| Fbxo5 |
T |
A |
10: 5,751,216 (GRCm39) |
K257M |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm12790 |
A |
G |
4: 101,824,713 (GRCm39) |
V185A |
possibly damaging |
Het |
| Gm7361 |
A |
G |
5: 26,465,411 (GRCm39) |
N136S |
probably benign |
Het |
| Il10ra |
C |
A |
9: 45,171,703 (GRCm39) |
C255F |
probably damaging |
Het |
| Insyn2b |
A |
G |
11: 34,352,819 (GRCm39) |
D287G |
possibly damaging |
Het |
| Itgam |
A |
T |
7: 127,684,114 (GRCm39) |
T340S |
probably benign |
Het |
| Ktn1 |
A |
T |
14: 47,901,428 (GRCm39) |
N62I |
probably damaging |
Het |
| Ldb2 |
A |
G |
5: 44,690,007 (GRCm39) |
L204P |
probably damaging |
Het |
| Map2k4 |
T |
C |
11: 65,597,842 (GRCm39) |
T90A |
possibly damaging |
Het |
| Mettl3 |
A |
T |
14: 52,535,428 (GRCm39) |
D287E |
probably benign |
Het |
| Mier2 |
A |
G |
10: 79,380,576 (GRCm39) |
F278S |
probably damaging |
Het |
| Mis18bp1 |
A |
G |
12: 65,195,937 (GRCm39) |
M609T |
probably benign |
Het |
| Myo1d |
A |
T |
11: 80,448,338 (GRCm39) |
V929D |
probably damaging |
Het |
| Naprt |
A |
T |
15: 75,763,828 (GRCm39) |
M364K |
probably benign |
Het |
| Nod2 |
T |
A |
8: 89,397,088 (GRCm39) |
C833S |
probably benign |
Het |
| Nrip3 |
C |
T |
7: 109,362,686 (GRCm39) |
|
probably null |
Het |
| Ntsr2 |
A |
G |
12: 16,708,426 (GRCm39) |
Y320C |
probably damaging |
Het |
| Or14j8 |
G |
A |
17: 38,263,315 (GRCm39) |
S200F |
possibly damaging |
Het |
| Or4p7 |
C |
A |
2: 88,221,877 (GRCm39) |
C95* |
probably null |
Het |
| Or51h1 |
G |
A |
7: 102,308,854 (GRCm39) |
M275I |
probably benign |
Het |
| Osbpl3 |
A |
T |
6: 50,325,063 (GRCm39) |
|
probably null |
Het |
| Pcdhb3 |
C |
T |
18: 37,434,699 (GRCm39) |
R222C |
probably damaging |
Het |
| Pik3cd |
G |
T |
4: 149,744,200 (GRCm39) |
R184S |
probably benign |
Het |
| Pramel32 |
T |
C |
4: 88,548,291 (GRCm39) |
E38G |
probably damaging |
Het |
| Rad50 |
A |
T |
11: 53,560,597 (GRCm39) |
|
probably null |
Het |
| Rad51ap2 |
A |
T |
12: 11,507,560 (GRCm39) |
H494L |
probably benign |
Het |
| Rbm25 |
T |
C |
12: 83,722,863 (GRCm39) |
M762T |
probably damaging |
Het |
| Sars1 |
G |
T |
3: 108,335,590 (GRCm39) |
S338* |
probably null |
Het |
| Usp35 |
T |
C |
7: 96,975,155 (GRCm39) |
E6G |
probably damaging |
Het |
| Vash2 |
T |
C |
1: 190,692,422 (GRCm39) |
Y251C |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wdr20 |
T |
A |
12: 110,763,443 (GRCm39) |
|
probably benign |
Het |
| Wfdc1 |
G |
A |
8: 120,406,146 (GRCm39) |
C87Y |
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 |
|
R5054:Zfp985
|
UTSW |
4 |
147,667,438 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
|
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'- TAGTCTCAATCAAGGAATCCACATG -3'
(R):5'- TTAAGACGGGATTTGTGAGTAAAGC -3'
Sequencing Primer
(F):5'- TCAAGGAATCCACATGCAGAAG -3'
(R):5'- GTGAGTAAAGCATTTGTCACATTCAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation