Incidental Mutation 'R6683:Creb3l4'
| ID |
527568 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Creb3l4
|
| Ensembl Gene |
ENSMUSG00000027938 |
| Gene Name |
cAMP responsive element binding protein 3-like 4 |
| Synonyms |
5330432F22Rik, Tisp40beta, Tisp40, ATCE1, Tisp40alpha, mJAL, 1700012K17Rik, JAL |
| MMRRC Submission |
044802-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.670)
|
| Stock # |
R6683 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
90144807-90150819 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 90145112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 347
(T347S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029546]
[ENSMUST00000029547]
[ENSMUST00000107369]
[ENSMUST00000119304]
|
| AlphaFold |
Q9D2A5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029546
|
| SMART Domains |
Protein: ENSMUSP00000029546
Gene: ENSMUSG00000027937
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Pfam:JTB
|
37 |
143 |
5.6e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029547
AA Change: T347S
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000029547
Gene: ENSMUSG00000027938
AA Change: T347S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
86 |
N/A |
INTRINSIC |
|
BRLZ
|
191 |
255 |
1.49e-13 |
SMART |
|
low complexity region
|
275 |
291 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107369
AA Change: T347S
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000102992
Gene: ENSMUSG00000027938
AA Change: T347S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
86 |
N/A |
INTRINSIC |
|
BRLZ
|
191 |
255 |
1.49e-13 |
SMART |
|
low complexity region
|
275 |
291 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119304
|
| SMART Domains |
Protein: ENSMUSP00000113763
Gene: ENSMUSG00000027937
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Pfam:JTB
|
30 |
95 |
1.2e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123839
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157045
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a CREB (cyclic AMP-responsive element-binding) protein with a transmembrane domain which localizes it to the ER membrane. The encoded protein may play a role in adiposity and male germ cell development. Homozygous knockout mice for this gene show increased adipogenesis, elevated testicular germ cell apoptosis and defects in spermatogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous null mice display oligozoospermia but have normal fertility and sperm morphology and motility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
T |
C |
1: 74,321,604 (GRCm39) |
E169G |
possibly damaging |
Het |
| Acat2 |
G |
A |
17: 13,162,814 (GRCm39) |
R377C |
probably benign |
Het |
| Adgrg6 |
A |
G |
10: 14,331,911 (GRCm39) |
V398A |
probably damaging |
Het |
| BC025920 |
A |
G |
10: 81,445,135 (GRCm39) |
H86R |
probably damaging |
Het |
| BC028528 |
T |
C |
3: 95,795,539 (GRCm39) |
T88A |
probably damaging |
Het |
| Dhcr7 |
T |
C |
7: 143,397,048 (GRCm39) |
V180A |
probably damaging |
Het |
| Fam187a |
T |
C |
11: 102,777,015 (GRCm39) |
V273A |
probably damaging |
Het |
| Hdgfl3 |
G |
A |
7: 81,550,101 (GRCm39) |
R78W |
possibly damaging |
Het |
| Krt8 |
T |
C |
15: 101,906,439 (GRCm39) |
T357A |
probably benign |
Het |
| Lkaaear1 |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
2: 181,339,354 (GRCm39) |
|
probably benign |
Het |
| Ly6d |
A |
T |
15: 74,634,299 (GRCm39) |
V97D |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,711,062 (GRCm39) |
I115T |
probably benign |
Het |
| Muc2 |
G |
A |
7: 141,305,214 (GRCm39) |
V173I |
probably benign |
Het |
| Nck2 |
T |
C |
1: 43,608,338 (GRCm39) |
S327P |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,647,717 (GRCm39) |
R20G |
probably damaging |
Het |
| Nlrp4f |
G |
A |
13: 65,347,009 (GRCm39) |
T83I |
probably benign |
Het |
| Nploc4 |
A |
G |
11: 120,274,156 (GRCm39) |
S546P |
probably damaging |
Het |
| Or1e1d-ps1 |
A |
G |
11: 73,818,939 (GRCm39) |
Y36C |
probably damaging |
Het |
| Or51g2 |
C |
T |
7: 102,622,920 (GRCm39) |
R93Q |
probably benign |
Het |
| Or52e8 |
C |
T |
7: 104,625,175 (GRCm39) |
V10I |
probably benign |
Het |
| Or5b21 |
A |
G |
19: 12,840,014 (GRCm39) |
S292G |
probably damaging |
Het |
| Panx1 |
T |
C |
9: 14,919,307 (GRCm39) |
E184G |
probably benign |
Het |
| Parp14 |
T |
C |
16: 35,655,047 (GRCm39) |
Y1808C |
probably damaging |
Het |
| Plcb1 |
A |
T |
2: 134,628,513 (GRCm39) |
S21C |
probably benign |
Het |
| Ppil6 |
A |
G |
10: 41,374,427 (GRCm39) |
N103D |
probably benign |
Het |
| Pth1r |
C |
T |
9: 110,556,319 (GRCm39) |
|
probably null |
Het |
| Rapgef4 |
A |
T |
2: 71,885,123 (GRCm39) |
|
probably benign |
Het |
| Rlf |
A |
G |
4: 121,005,123 (GRCm39) |
S1286P |
probably damaging |
Het |
| Rnf217 |
A |
G |
10: 31,410,822 (GRCm39) |
V291A |
possibly damaging |
Het |
| Serpina3a |
T |
C |
12: 104,085,896 (GRCm39) |
M117T |
probably benign |
Het |
| St8sia4 |
T |
C |
1: 95,581,424 (GRCm39) |
D106G |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,098,207 (GRCm39) |
I485T |
probably damaging |
Het |
| Trdc |
T |
C |
14: 54,381,692 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,541,004 (GRCm39) |
L33994P |
probably damaging |
Het |
| Vmn2r42 |
T |
A |
7: 8,187,224 (GRCm39) |
K799N |
probably damaging |
Het |
| Zfp42 |
G |
A |
8: 43,749,093 (GRCm39) |
T136M |
possibly damaging |
Het |
| Znhit1 |
A |
T |
5: 137,011,487 (GRCm39) |
S109T |
probably benign |
Het |
|
| Other mutations in Creb3l4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00835:Creb3l4
|
APN |
3 |
90,149,294 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01015:Creb3l4
|
APN |
3 |
90,150,138 (GRCm39) |
start codon destroyed |
probably null |
|
|
IGL01092:Creb3l4
|
APN |
3 |
90,145,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02172:Creb3l4
|
APN |
3 |
90,150,082 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02291:Creb3l4
|
APN |
3 |
90,149,290 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1344:Creb3l4
|
UTSW |
3 |
90,146,045 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1418:Creb3l4
|
UTSW |
3 |
90,146,045 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1836:Creb3l4
|
UTSW |
3 |
90,146,210 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2154:Creb3l4
|
UTSW |
3 |
90,145,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2877:Creb3l4
|
UTSW |
3 |
90,149,615 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4923:Creb3l4
|
UTSW |
3 |
90,149,521 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6024:Creb3l4
|
UTSW |
3 |
90,146,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7567:Creb3l4
|
UTSW |
3 |
90,149,729 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8749:Creb3l4
|
UTSW |
3 |
90,145,199 (GRCm39) |
missense |
probably benign |
|
|
R8794:Creb3l4
|
UTSW |
3 |
90,145,225 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1088:Creb3l4
|
UTSW |
3 |
90,145,058 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCTTTGACCTTACCACAAAG -3'
(R):5'- AGGATGAGCCACGAAACAATTCTC -3'
Sequencing Primer
(F):5'- TTGACCTTACCACAAAGAAGAAATG -3'
(R):5'- CAAGTAGGAGTTCTGGGCCAGTC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation