Incidental Mutation 'R3694:Rbm4'
| ID |
268927 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm4
|
| Ensembl Gene |
ENSMUSG00000094936 |
| Gene Name |
RNA binding motif protein 4 |
| Synonyms |
Rbm4a, Lark1 |
| MMRRC Submission |
040689-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.615)
|
| Stock # |
R3694 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
4834321-4843929 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4837411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 358
(Y358H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137345
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164209]
[ENSMUST00000164376]
[ENSMUST00000172000]
[ENSMUST00000178353]
[ENSMUST00000178615]
[ENSMUST00000179909]
[ENSMUST00000180248]
[ENSMUST00000179189]
|
| AlphaFold |
Q8C7Q4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164209
|
| SMART Domains |
Protein: ENSMUSP00000129745
Gene: ENSMUSG00000094936
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
3 |
68 |
5.4e-20 |
SMART |
|
RRM
|
79 |
143 |
1.23e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164376
|
| SMART Domains |
Protein: ENSMUSP00000127564
Gene: ENSMUSG00000094936
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
3 |
68 |
5.4e-20 |
SMART |
|
RRM
|
79 |
144 |
4.77e-21 |
SMART |
|
ZnF_C2HC
|
161 |
172 |
4.62e0 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172000
AA Change: Y474H
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128810
Gene: ENSMUSG00000096370
AA Change: Y474H
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
2 |
69 |
1.96e-17 |
SMART |
|
Pfam:RRM_1
|
81 |
116 |
1.5e-5 |
PFAM |
|
RRM
|
119 |
184 |
5.4e-20 |
SMART |
|
RRM
|
195 |
260 |
4.77e-21 |
SMART |
|
ZnF_C2HC
|
277 |
293 |
1.75e-5 |
SMART |
|
low complexity region
|
343 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
399 |
412 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178353
|
| SMART Domains |
Protein: ENSMUSP00000136599
Gene: ENSMUSG00000096370
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
2 |
69 |
1.96e-17 |
SMART |
|
Pfam:RRM_1
|
81 |
118 |
5.6e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178404
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178615
|
| SMART Domains |
Protein: ENSMUSP00000136254
Gene: ENSMUSG00000094936
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
3 |
68 |
5.4e-20 |
SMART |
|
RRM
|
79 |
143 |
1.23e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178727
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000179909
AA Change: Y333H
|
| SMART Domains |
Protein: ENSMUSP00000136623
Gene: ENSMUSG00000096370
AA Change: Y333H
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
2 |
69 |
1.96e-17 |
SMART |
|
RRM
|
80 |
138 |
1.83e0 |
SMART |
|
ZnF_C2HC
|
136 |
152 |
1.75e-5 |
SMART |
|
low complexity region
|
202 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
271 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180248
AA Change: Y358H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137345
Gene: ENSMUSG00000094936
AA Change: Y358H
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
3 |
68 |
5.4e-20 |
SMART |
|
RRM
|
79 |
144 |
4.77e-21 |
SMART |
|
ZnF_C2HC
|
161 |
177 |
1.75e-5 |
SMART |
|
low complexity region
|
227 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
296 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179820
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179189
|
| SMART Domains |
Protein: ENSMUSP00000137174
Gene: ENSMUSG00000094936
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
3 |
68 |
5.4e-20 |
SMART |
|
RRM
|
79 |
144 |
4.77e-21 |
SMART |
|
ZnF_C2HC
|
161 |
177 |
1.75e-5 |
SMART |
|
| Meta Mutation Damage Score |
0.4637 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display reduced postnatal body weight, decreased insulin levels, smaller pancreatic islets and impaired glucose tolerance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
A |
G |
7: 12,284,443 (GRCm39) |
I97V |
possibly damaging |
Het |
| AI182371 |
A |
G |
2: 34,975,764 (GRCm39) |
C267R |
probably benign |
Het |
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atp8b1 |
G |
A |
18: 64,666,792 (GRCm39) |
T1135I |
possibly damaging |
Het |
| Avil |
T |
C |
10: 126,844,199 (GRCm39) |
Y253H |
probably damaging |
Het |
| Bcas3 |
G |
T |
11: 85,692,628 (GRCm39) |
V338L |
probably benign |
Het |
| Cabp2 |
A |
G |
19: 4,133,593 (GRCm39) |
T12A |
probably benign |
Het |
| Ccdc158 |
T |
C |
5: 92,757,904 (GRCm39) |
E1056G |
probably damaging |
Het |
| Clcn7 |
T |
A |
17: 25,378,681 (GRCm39) |
I722N |
probably damaging |
Het |
| Cnga3 |
T |
C |
1: 37,300,821 (GRCm39) |
Y552H |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyp3a25 |
A |
T |
5: 145,926,786 (GRCm39) |
|
probably null |
Het |
| Dmrta1 |
T |
A |
4: 89,580,415 (GRCm39) |
Y458* |
probably null |
Het |
| Eya1 |
A |
G |
1: 14,299,725 (GRCm39) |
Y343H |
probably damaging |
Het |
| Fads2b |
T |
G |
2: 85,324,454 (GRCm39) |
I291L |
probably benign |
Het |
| Fbln5 |
T |
C |
12: 101,731,511 (GRCm39) |
N228D |
probably benign |
Het |
| Fmo5 |
T |
C |
3: 97,553,230 (GRCm39) |
F393L |
probably damaging |
Het |
| Gpr63 |
A |
G |
4: 25,007,993 (GRCm39) |
Y239C |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,133,827 (GRCm39) |
M408V |
probably benign |
Het |
| Lztr1 |
G |
A |
16: 17,326,925 (GRCm39) |
A12T |
possibly damaging |
Het |
| Magi2 |
A |
AG |
5: 20,807,459 (GRCm39) |
|
probably null |
Het |
| Mutyh |
T |
A |
4: 116,673,651 (GRCm39) |
S146T |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,969,221 (GRCm39) |
K2460E |
probably damaging |
Het |
| Or4p18 |
A |
T |
2: 88,232,540 (GRCm39) |
I246N |
possibly damaging |
Het |
| Or5b112 |
T |
C |
19: 13,319,893 (GRCm39) |
I257T |
possibly damaging |
Het |
| Ppfia4 |
G |
T |
1: 134,240,305 (GRCm39) |
T896K |
probably damaging |
Het |
| Ppp2r2a |
C |
A |
14: 67,257,199 (GRCm39) |
D344Y |
probably damaging |
Het |
| Scn9a |
T |
G |
2: 66,392,749 (GRCm39) |
E281A |
probably benign |
Het |
| Strn |
T |
C |
17: 78,964,421 (GRCm39) |
N515D |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,061,708 (GRCm39) |
Y367* |
probably null |
Het |
| Syt7 |
G |
T |
19: 10,413,000 (GRCm39) |
R265L |
possibly damaging |
Het |
| Tub |
A |
G |
7: 108,627,039 (GRCm39) |
S313G |
probably benign |
Het |
| Vmn2r18 |
A |
G |
5: 151,508,033 (GRCm39) |
F364L |
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,450,044 (GRCm39) |
N97D |
probably damaging |
Het |
| Vmn2r85 |
A |
G |
10: 130,254,171 (GRCm39) |
S838P |
probably damaging |
Het |
| Vmn2r92 |
T |
A |
17: 18,372,205 (GRCm39) |
L5* |
probably null |
Het |
| Zfyve28 |
A |
G |
5: 34,374,812 (GRCm39) |
F401L |
probably damaging |
Het |
|
| Other mutations in Rbm4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0311:Rbm4
|
UTSW |
19 |
4,837,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2093:Rbm4
|
UTSW |
19 |
4,837,792 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3693:Rbm4
|
UTSW |
19 |
4,837,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3695:Rbm4
|
UTSW |
19 |
4,837,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6103:Rbm4
|
UTSW |
19 |
4,837,947 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7598:Rbm4
|
UTSW |
19 |
4,842,539 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7810:Rbm4
|
UTSW |
19 |
4,842,650 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8218:Rbm4
|
UTSW |
19 |
4,837,444 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8936:Rbm4
|
UTSW |
19 |
4,837,539 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAAGGATGTTTACCTCAAACTTC -3'
(R):5'- AATAGACATCTGTTGCCGCC -3'
Sequencing Primer
(F):5'- CAGCATTTAAAGATGTGTCTGTAGAC -3'
(R):5'- CTACTTCATATTACGGGCGGGATC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation