Incidental Mutation 'R2169:Zmym1'
| ID |
235656 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmym1
|
| Ensembl Gene |
ENSMUSG00000043872 |
| Gene Name |
zinc finger, MYM domain containing 1 |
| Synonyms |
5830412B09Rik |
| MMRRC Submission |
040172-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.211)
|
| Stock # |
R2169 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
126940887-126954945 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 126947996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055013]
[ENSMUST00000055013]
[ENSMUST00000106099]
[ENSMUST00000106099]
[ENSMUST00000106102]
[ENSMUST00000106102]
[ENSMUST00000136186]
|
| AlphaFold |
Q3TJB1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000055013
|
| SMART Domains |
Protein: ENSMUSP00000050669
Gene: ENSMUSG00000043872
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-FCS
|
6 |
46 |
2.4e-8 |
PFAM |
|
Pfam:zf-FCS
|
53 |
96 |
1.6e-10 |
PFAM |
|
low complexity region
|
155 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
243 |
N/A |
INTRINSIC |
|
Pfam:DUF4371
|
335 |
569 |
4.9e-55 |
PFAM |
|
Pfam:Dimer_Tnp_hAT
|
870 |
959 |
5.1e-18 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000055013
|
| SMART Domains |
Protein: ENSMUSP00000050669
Gene: ENSMUSG00000043872
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-FCS
|
6 |
46 |
2.4e-8 |
PFAM |
|
Pfam:zf-FCS
|
53 |
96 |
1.6e-10 |
PFAM |
|
low complexity region
|
155 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
243 |
N/A |
INTRINSIC |
|
Pfam:DUF4371
|
335 |
569 |
4.9e-55 |
PFAM |
|
Pfam:Dimer_Tnp_hAT
|
870 |
959 |
5.1e-18 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106099
|
| SMART Domains |
Protein: ENSMUSP00000101705
Gene: ENSMUSG00000043872
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-FCS
|
6 |
46 |
3.3e-9 |
PFAM |
|
Pfam:zf-FCS
|
53 |
96 |
4.6e-10 |
PFAM |
|
low complexity region
|
155 |
168 |
N/A |
INTRINSIC |
|
Pfam:DUF4371
|
237 |
471 |
2.8e-52 |
PFAM |
|
Pfam:Dimer_Tnp_hAT
|
772 |
861 |
5.3e-18 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106099
|
| SMART Domains |
Protein: ENSMUSP00000101705
Gene: ENSMUSG00000043872
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-FCS
|
6 |
46 |
3.3e-9 |
PFAM |
|
Pfam:zf-FCS
|
53 |
96 |
4.6e-10 |
PFAM |
|
low complexity region
|
155 |
168 |
N/A |
INTRINSIC |
|
Pfam:DUF4371
|
237 |
471 |
2.8e-52 |
PFAM |
|
Pfam:Dimer_Tnp_hAT
|
772 |
861 |
5.3e-18 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106102
|
| SMART Domains |
Protein: ENSMUSP00000101708
Gene: ENSMUSG00000043872
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-FCS
|
6 |
46 |
7.8e-9 |
PFAM |
|
Pfam:zf-FCS
|
53 |
96 |
1.1e-9 |
PFAM |
|
low complexity region
|
155 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
243 |
N/A |
INTRINSIC |
|
Pfam:DUF4371
|
335 |
569 |
7.4e-52 |
PFAM |
|
Pfam:Dimer_Tnp_hAT
|
870 |
959 |
1.7e-17 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106102
|
| SMART Domains |
Protein: ENSMUSP00000101708
Gene: ENSMUSG00000043872
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-FCS
|
6 |
46 |
7.8e-9 |
PFAM |
|
Pfam:zf-FCS
|
53 |
96 |
1.1e-9 |
PFAM |
|
low complexity region
|
155 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
243 |
N/A |
INTRINSIC |
|
Pfam:DUF4371
|
335 |
569 |
7.4e-52 |
PFAM |
|
Pfam:Dimer_Tnp_hAT
|
870 |
959 |
1.7e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119262
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124429
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136186
|
| SMART Domains |
Protein: ENSMUSP00000120772
Gene: ENSMUSG00000043872
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-FCS
|
6 |
46 |
1.5e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137236
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140605
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152607
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,622,349 (GRCm39) |
T606A |
probably benign |
Het |
| Adtrp |
T |
A |
13: 41,920,905 (GRCm39) |
S221C |
possibly damaging |
Het |
| Ap1g2 |
T |
A |
14: 55,336,797 (GRCm39) |
|
probably null |
Het |
| Arhgef5 |
A |
T |
6: 43,251,354 (GRCm39) |
M702L |
probably benign |
Het |
| Axdnd1 |
A |
G |
1: 156,245,879 (GRCm39) |
V34A |
probably damaging |
Het |
| Ccdc154 |
T |
A |
17: 25,389,897 (GRCm39) |
V509E |
probably damaging |
Het |
| Cttnbp2 |
C |
T |
6: 18,426,096 (GRCm39) |
D761N |
probably benign |
Het |
| Ddx18 |
A |
T |
1: 121,486,138 (GRCm39) |
|
probably null |
Het |
| Dipk1a |
A |
T |
5: 108,057,325 (GRCm39) |
L411* |
probably null |
Het |
| Fam241b |
A |
T |
10: 61,945,745 (GRCm39) |
I4N |
probably damaging |
Het |
| Gm5800 |
T |
C |
14: 51,951,135 (GRCm39) |
K155E |
possibly damaging |
Het |
| Hemgn |
T |
A |
4: 46,396,417 (GRCm39) |
H273L |
possibly damaging |
Het |
| Hsp90aa1 |
A |
G |
12: 110,659,168 (GRCm39) |
V543A |
probably damaging |
Het |
| Hspa1l |
A |
G |
17: 35,196,299 (GRCm39) |
K113E |
probably benign |
Het |
| Hspb2 |
A |
G |
9: 50,663,015 (GRCm39) |
I38T |
probably damaging |
Het |
| Htt |
A |
T |
5: 35,034,819 (GRCm39) |
E2021D |
probably benign |
Het |
| Lrpprc |
C |
T |
17: 85,077,505 (GRCm39) |
R394Q |
probably benign |
Het |
| Lrrc8b |
T |
C |
5: 105,629,753 (GRCm39) |
Y700H |
probably damaging |
Het |
| Mefv |
A |
G |
16: 3,528,752 (GRCm39) |
V593A |
probably benign |
Het |
| Mrgprh |
C |
T |
17: 13,095,856 (GRCm39) |
T32M |
probably benign |
Het |
| Mrpl18 |
A |
G |
17: 13,132,655 (GRCm39) |
|
probably null |
Het |
| Muc1 |
A |
G |
3: 89,138,903 (GRCm39) |
E504G |
probably damaging |
Het |
| Ndufa13 |
G |
A |
8: 70,347,169 (GRCm39) |
A77V |
probably damaging |
Het |
| Or8g33 |
A |
G |
9: 39,337,654 (GRCm39) |
F238L |
possibly damaging |
Het |
| Pgbd5 |
T |
A |
8: 125,111,363 (GRCm39) |
|
probably null |
Het |
| Pgm5 |
T |
A |
19: 24,812,179 (GRCm39) |
I118F |
probably damaging |
Het |
| Phyhip |
T |
C |
14: 70,704,572 (GRCm39) |
F264L |
possibly damaging |
Het |
| Polr3e |
C |
T |
7: 120,531,360 (GRCm39) |
R176W |
probably damaging |
Het |
| Prkacb |
C |
T |
3: 146,452,438 (GRCm39) |
|
probably null |
Het |
| Rab19 |
T |
G |
6: 39,360,975 (GRCm39) |
V41G |
possibly damaging |
Het |
| Rapgef5 |
A |
G |
12: 117,679,130 (GRCm39) |
Y234C |
probably benign |
Het |
| Slc26a5 |
T |
C |
5: 22,018,863 (GRCm39) |
T659A |
probably damaging |
Het |
| Slc6a2 |
G |
A |
8: 93,720,729 (GRCm39) |
V449I |
probably benign |
Het |
| Stab2 |
A |
G |
10: 86,723,726 (GRCm39) |
S1490P |
probably damaging |
Het |
| Tln1 |
T |
C |
4: 43,548,005 (GRCm39) |
T713A |
probably damaging |
Het |
| Tmc6 |
A |
T |
11: 117,659,932 (GRCm39) |
L732Q |
probably damaging |
Het |
| Unc80 |
C |
T |
1: 66,560,740 (GRCm39) |
H823Y |
possibly damaging |
Het |
| Vmn1r203 |
A |
T |
13: 22,708,905 (GRCm39) |
K229* |
probably null |
Het |
| Xylt1 |
G |
A |
7: 117,266,660 (GRCm39) |
G893R |
probably damaging |
Het |
| Ythdf1 |
A |
T |
2: 180,553,907 (GRCm39) |
S69T |
probably damaging |
Het |
| Zfp114 |
C |
T |
7: 23,880,509 (GRCm39) |
T285I |
probably benign |
Het |
| Zfp458 |
T |
C |
13: 67,405,113 (GRCm39) |
E439G |
probably damaging |
Het |
| Zfp65 |
G |
A |
13: 67,858,499 (GRCm39) |
T55I |
probably damaging |
Het |
|
| Other mutations in Zmym1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01140:Zmym1
|
APN |
4 |
126,943,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02326:Zmym1
|
APN |
4 |
126,941,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02392:Zmym1
|
APN |
4 |
126,942,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02431:Zmym1
|
APN |
4 |
126,941,557 (GRCm39) |
nonsense |
probably null |
|
|
IGL02512:Zmym1
|
APN |
4 |
126,942,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03303:Zmym1
|
APN |
4 |
126,942,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB009:Zmym1
|
UTSW |
4 |
126,944,578 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
BB019:Zmym1
|
UTSW |
4 |
126,944,578 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0195:Zmym1
|
UTSW |
4 |
126,941,704 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0266:Zmym1
|
UTSW |
4 |
126,941,818 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0416:Zmym1
|
UTSW |
4 |
126,952,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1374:Zmym1
|
UTSW |
4 |
126,943,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1480:Zmym1
|
UTSW |
4 |
126,942,405 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1704:Zmym1
|
UTSW |
4 |
126,942,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1806:Zmym1
|
UTSW |
4 |
126,941,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1815:Zmym1
|
UTSW |
4 |
126,942,814 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2124:Zmym1
|
UTSW |
4 |
126,943,363 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4027:Zmym1
|
UTSW |
4 |
126,943,672 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4410:Zmym1
|
UTSW |
4 |
126,941,897 (GRCm39) |
nonsense |
probably null |
|
|
R4572:Zmym1
|
UTSW |
4 |
126,944,628 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4788:Zmym1
|
UTSW |
4 |
126,948,090 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5120:Zmym1
|
UTSW |
4 |
126,945,230 (GRCm39) |
splice site |
probably null |
|
|
R5130:Zmym1
|
UTSW |
4 |
126,942,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5615:Zmym1
|
UTSW |
4 |
126,943,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6190:Zmym1
|
UTSW |
4 |
126,941,677 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7426:Zmym1
|
UTSW |
4 |
126,943,191 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7464:Zmym1
|
UTSW |
4 |
126,952,728 (GRCm39) |
nonsense |
probably null |
|
|
R7540:Zmym1
|
UTSW |
4 |
126,942,550 (GRCm39) |
missense |
probably benign |
|
|
R7779:Zmym1
|
UTSW |
4 |
126,948,038 (GRCm39) |
missense |
probably benign |
|
|
R7807:Zmym1
|
UTSW |
4 |
126,941,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7876:Zmym1
|
UTSW |
4 |
126,941,496 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7932:Zmym1
|
UTSW |
4 |
126,944,578 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8183:Zmym1
|
UTSW |
4 |
126,952,649 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8276:Zmym1
|
UTSW |
4 |
126,948,051 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8744:Zmym1
|
UTSW |
4 |
126,945,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8798:Zmym1
|
UTSW |
4 |
126,943,664 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9199:Zmym1
|
UTSW |
4 |
126,944,623 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9385:Zmym1
|
UTSW |
4 |
126,952,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
T0722:Zmym1
|
UTSW |
4 |
126,943,466 (GRCm39) |
missense |
probably benign |
0.05 |
|
T0722:Zmym1
|
UTSW |
4 |
126,942,043 (GRCm39) |
missense |
probably benign |
0.01 |
|
T0722:Zmym1
|
UTSW |
4 |
126,941,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
T0975:Zmym1
|
UTSW |
4 |
126,943,466 (GRCm39) |
missense |
probably benign |
0.05 |
|
T0975:Zmym1
|
UTSW |
4 |
126,942,043 (GRCm39) |
missense |
probably benign |
0.01 |
|
T0975:Zmym1
|
UTSW |
4 |
126,941,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTCAAGTAAGGACACTCTTCCC -3'
(R):5'- TGACAGCATCCTTAATTTCTGGAAC -3'
Sequencing Primer
(F):5'- TTCCCCCTGAAGTATGTGGGAC -3'
(R):5'- CAGCATAGCCCATACAGTGATTCTTG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation