Incidental Mutation 'RF036:Dcdc2b'
| ID |
604575 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcdc2b
|
| Ensembl Gene |
ENSMUSG00000078552 |
| Gene Name |
doublecortin domain containing 2b |
| Synonyms |
Gm12964, LOC384062 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
RF036 (G1)
|
| Quality Score |
214.458 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
129502124-129508050 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
GCTGC to GCTGCCAGGCCTGC
at 129503444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137989
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102591]
[ENSMUST00000106037]
[ENSMUST00000129515]
[ENSMUST00000135628]
[ENSMUST00000137090]
[ENSMUST00000150110]
[ENSMUST00000151969]
[ENSMUST00000152126]
[ENSMUST00000172774]
[ENSMUST00000173758]
[ENSMUST00000173937]
[ENSMUST00000174073]
[ENSMUST00000174819]
[ENSMUST00000179209]
[ENSMUST00000181579]
|
| AlphaFold |
J3KML0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102591
|
| SMART Domains |
Protein: ENSMUSP00000099651
Gene: ENSMUSG00000028797
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM234
|
11 |
126 |
2.1e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106037
|
| SMART Domains |
Protein: ENSMUSP00000101653
Gene: ENSMUSG00000078552
| Domain | Start | End | E-Value | Type |
|---|
|
DCX
|
1 |
85 |
7.69e-26 |
SMART |
|
DCX
|
118 |
205 |
6.22e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129515
|
| SMART Domains |
Protein: ENSMUSP00000117184
Gene: ENSMUSG00000028797
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0546
|
11 |
62 |
1.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135628
|
| SMART Domains |
Protein: ENSMUSP00000120682
Gene: ENSMUSG00000028797
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0546
|
11 |
62 |
1.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137090
|
| SMART Domains |
Protein: ENSMUSP00000117568
Gene: ENSMUSG00000028797
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0546
|
11 |
62 |
1.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145345
|
| SMART Domains |
Protein: ENSMUSP00000122893
Gene: ENSMUSG00000028797
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM234
|
6 |
56 |
2.8e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150110
|
| SMART Domains |
Protein: ENSMUSP00000122513
Gene: ENSMUSG00000028797
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0546
|
11 |
58 |
1.6e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151969
|
| SMART Domains |
Protein: ENSMUSP00000120878
Gene: ENSMUSG00000028797
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0546
|
11 |
62 |
1.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152126
|
| SMART Domains |
Protein: ENSMUSP00000120224
Gene: ENSMUSG00000028797
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0546
|
11 |
62 |
1.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172774
|
| SMART Domains |
Protein: ENSMUSP00000133502
Gene: ENSMUSG00000028797
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0546
|
11 |
62 |
1.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173758
|
| SMART Domains |
Protein: ENSMUSP00000134588
Gene: ENSMUSG00000028797
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0546
|
11 |
117 |
3.2e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173937
|
| SMART Domains |
Protein: ENSMUSP00000133412
Gene: ENSMUSG00000028797
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0546
|
11 |
62 |
1.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174073
|
| SMART Domains |
Protein: ENSMUSP00000133325
Gene: ENSMUSG00000028797
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0546
|
11 |
62 |
1.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174819
|
| SMART Domains |
Protein: ENSMUSP00000133695
Gene: ENSMUSG00000028797
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0546
|
11 |
57 |
1.5e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179209
|
| SMART Domains |
Protein: ENSMUSP00000135913
Gene: ENSMUSG00000078552
| Domain | Start | End | E-Value | Type |
|---|
|
DCX
|
1 |
86 |
1.32e-24 |
SMART |
|
DCX
|
91 |
178 |
1.1e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181579
|
| SMART Domains |
Protein: ENSMUSP00000137989
Gene: ENSMUSG00000028797
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0546
|
11 |
124 |
4.4e-42 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. [provided by RefSeq, Oct 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
TCCCTG |
17: 24,506,701 (GRCm39) |
|
probably benign |
Het |
| Acap3 |
G |
GGGCTGCATCCTGGGC |
4: 155,989,544 (GRCm39) |
|
probably benign |
Het |
| Adgra3 |
GGCCGC |
GGC |
5: 50,215,983 (GRCm39) |
|
probably benign |
Het |
| Blm |
CCTCCTCCTCCT |
CCTCCTCCTCCTACTCCTCCTCCT |
7: 80,162,662 (GRCm39) |
|
probably null |
Het |
| Calhm1 |
C |
CTGTGGCTGTGGG |
19: 47,129,716 (GRCm39) |
|
probably benign |
Het |
| Cdx1 |
CTGCTG |
CTGCTGTTGCTG |
18: 61,152,942 (GRCm39) |
|
probably benign |
Het |
| Cherp |
ACCTGGACC |
AC |
8: 73,215,888 (GRCm39) |
|
probably null |
Het |
| Cherp |
TGGACC |
T |
8: 73,215,891 (GRCm39) |
|
probably null |
Het |
| Cyb5r4 |
CAGACACACTGCC |
CAGACACACTGCCTAGGGATGTGATAGACACACTGCC |
9: 86,922,483 (GRCm39) |
|
probably benign |
Het |
| Fam171b |
GCAGC |
GCAGCAACAGC |
2: 83,643,236 (GRCm39) |
|
probably benign |
Het |
| Foxd3 |
GGACCCTACGGCCG |
GG |
4: 99,545,633 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
TTTT |
TTTTTCTTT |
2: 82,814,707 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
GTGTGT |
GTGTGTATGTGT |
19: 11,489,142 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GTGG |
GTGGGGCTTGAATTGG |
3: 37,179,976 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
TCCTTTTCCTTTT |
TCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTGCCTTTTCCTTTT |
9: 106,447,810 (GRCm39) |
|
probably benign |
Het |
| Ivl |
TGCTGCTGCTGCTGC |
T |
3: 92,479,648 (GRCm39) |
|
probably null |
Het |
| Kif12 |
C |
CCTCCACCCGGCGGGT |
4: 63,089,664 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
CCAGCTCCAGCT |
CCAGCTCCAGCTACAGCTCCAGCT |
2: 181,339,381 (GRCm39) |
|
probably benign |
Het |
| Lrtm1 |
TAGCCTCAGTGGCC |
T |
14: 28,743,400 (GRCm39) |
|
probably null |
Het |
| Mamld1 |
CAG |
CAGAAG |
X: 70,162,446 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
CAG |
CAGGAG |
X: 70,162,434 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,441 (GRCm39) |
|
probably benign |
Het |
| Morn4 |
GTGAG |
GTGAGTCAGGCAATGAG |
19: 42,064,553 (GRCm39) |
|
probably null |
Het |
| Nefh |
GGGAC |
GGGACGTGGCATCACCTGTGGAC |
11: 4,891,048 (GRCm39) |
|
probably benign |
Het |
| Nefh |
TGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
TGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,010 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,016 (GRCm39) |
|
probably benign |
Het |
| Nefh |
TGGCCTC |
TGGCCTCGCCTGGGGACTGGGCCTC |
11: 4,891,036 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
TTAGCAGTGAGGAGCA |
TTAGCAGTGAGGAGCACGCTGAGATACACGCTAGCAGTGAGGAGCA |
2: 119,458,068 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
TGAGGAGCAAGCTGAGA |
TGAGGAGCAAGCTGAGATACACGTTAGCAGGGAGGAGCAAGCTGAGA |
2: 119,458,075 (GRCm39) |
|
probably benign |
Het |
| Or10j2 |
GTGACATC |
G |
1: 173,098,276 (GRCm39) |
|
probably null |
Het |
| Phc1 |
CTTGCTG |
CTTGCTGTTGCTG |
6: 122,300,539 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
TCATGGTCCTGTAGAGCAATGGGGATTC |
TCATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACGCATGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,774 (GRCm39) |
|
probably benign |
Het |
| Rnf144a |
TCTCTCTCTC |
TCTCTCTCTCTCTCTCACTCTCTCTC |
12: 26,364,007 (GRCm39) |
|
probably benign |
Het |
| Rnf144a |
CTCTC |
CTCTCTCTCTCTCTCTATCTC |
12: 26,364,012 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1 |
AGAGGAAG |
A |
14: 52,386,998 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
CG |
CGATG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
GTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
GTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
7: 127,384,472 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
G |
GCGATCCTCCCCAGTCCCGCAAGGCCAT |
5: 77,164,276 (GRCm39) |
|
probably benign |
Het |
| Stat1 |
G |
T |
1: 52,191,419 (GRCm39) |
E591D |
probably benign |
Het |
| Strn |
CTTACCCCAGTC |
CTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCATTACCCCAGTC |
17: 78,984,706 (GRCm39) |
|
probably null |
Het |
| Tcof1 |
CT |
CTAGT |
18: 60,961,480 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
AGC |
AGCGGC |
18: 60,968,808 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCACCA |
17: 48,097,028 (GRCm39) |
|
probably benign |
Het |
| Tomm5 |
GCATCTTCC |
GCATCTTCCACATCTTCC |
4: 45,107,973 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
GCTGCTGCTGCT |
GCTGCTGCTGCTGCTTCTGCTGCTGCT |
15: 72,673,169 (GRCm39) |
|
probably benign |
Het |
| Ubtf |
CTTC |
CTTCTTC |
11: 102,197,771 (GRCm39) |
|
probably benign |
Het |
| Usp2 |
ACTTAC |
ACTTACTCATGTGACCCGTTCTTCCCTTAC |
9: 44,000,421 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Dcdc2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02104:Dcdc2b
|
APN |
4 |
129,504,867 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03210:Dcdc2b
|
APN |
4 |
129,505,578 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0094:Dcdc2b
|
UTSW |
4 |
129,504,104 (GRCm39) |
splice site |
probably null |
|
|
R0362:Dcdc2b
|
UTSW |
4 |
129,504,031 (GRCm39) |
splice site |
probably null |
|
|
R4565:Dcdc2b
|
UTSW |
4 |
129,504,778 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4677:Dcdc2b
|
UTSW |
4 |
129,507,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Dcdc2b
|
UTSW |
4 |
129,505,060 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5364:Dcdc2b
|
UTSW |
4 |
129,502,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7399:Dcdc2b
|
UTSW |
4 |
129,503,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF031:Dcdc2b
|
UTSW |
4 |
129,503,444 (GRCm39) |
unclassified |
probably benign |
|
|
RF033:Dcdc2b
|
UTSW |
4 |
129,503,444 (GRCm39) |
unclassified |
probably benign |
|
|
RF039:Dcdc2b
|
UTSW |
4 |
129,503,444 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGACTCATTCTGCTGCAGAC -3'
(R):5'- GAATGCCAGCGTCAATTCAAC -3'
Sequencing Primer
(F):5'- TGCTGCAGACATCTCCCAG -3'
(R):5'- CAACTATTTCTGGATAGACAGCCTGG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation