Incidental Mutation 'R5981:Rbm44'
| ID |
481408 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm44
|
| Ensembl Gene |
ENSMUSG00000070732 |
| Gene Name |
RNA binding motif protein 44 |
| Synonyms |
LOC329207 |
| MMRRC Submission |
043250-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R5981 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
91072811-91098517 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91080411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 166
(S166P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094698]
[ENSMUST00000188818]
|
| AlphaFold |
Q3V089 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094698
AA Change: S200P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000092286
Gene: ENSMUSG00000070732
AA Change: S200P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
227 |
238 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
460 |
N/A |
INTRINSIC |
|
RRM
|
793 |
861 |
8.27e-7 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000188818
AA Change: S166P
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190965
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Male mice homozygous or heterozygous for a knock-out allele exhibit enhanced fertility with increased litter size. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
T |
C |
3: 59,659,299 (GRCm39) |
Y251H |
probably benign |
Het |
| Ccr3 |
G |
A |
9: 123,828,820 (GRCm39) |
G52S |
probably damaging |
Het |
| Cep192 |
T |
C |
18: 67,993,661 (GRCm39) |
L1992P |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,515,293 (GRCm39) |
K23E |
probably damaging |
Het |
| Col12a1 |
G |
A |
9: 79,585,788 (GRCm39) |
R1224C |
probably damaging |
Het |
| Cox7c |
A |
T |
13: 86,194,780 (GRCm39) |
S5R |
possibly damaging |
Het |
| Eps8 |
A |
G |
6: 137,459,208 (GRCm39) |
V765A |
probably damaging |
Het |
| Frg1 |
T |
C |
8: 41,863,307 (GRCm39) |
D104G |
possibly damaging |
Het |
| Gm11032 |
T |
C |
11: 4,571,697 (GRCm39) |
V34A |
probably benign |
Het |
| Hid1 |
G |
A |
11: 115,241,774 (GRCm39) |
T612I |
possibly damaging |
Het |
| Hivep1 |
C |
T |
13: 42,313,664 (GRCm39) |
T1968I |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 76,905,229 (GRCm39) |
D444G |
probably damaging |
Het |
| Ms4a1 |
T |
C |
19: 11,229,180 (GRCm39) |
E242G |
probably benign |
Het |
| Mx1 |
T |
C |
16: 97,255,405 (GRCm39) |
D216G |
probably damaging |
Het |
| Panx3 |
A |
G |
9: 37,580,177 (GRCm39) |
S59P |
possibly damaging |
Het |
| Pcdhgb1 |
A |
G |
18: 37,814,907 (GRCm39) |
D466G |
probably damaging |
Het |
| Plg |
T |
C |
17: 12,597,605 (GRCm39) |
|
probably null |
Het |
| Prpf4b |
T |
C |
13: 35,070,693 (GRCm39) |
S427P |
probably benign |
Het |
| Recql |
A |
G |
6: 142,318,604 (GRCm39) |
L213P |
probably damaging |
Het |
| Rwdd1 |
A |
G |
10: 33,885,081 (GRCm39) |
Y60H |
probably damaging |
Het |
| Sult1b1 |
A |
C |
5: 87,682,816 (GRCm39) |
I43R |
probably damaging |
Het |
| Trak2 |
A |
T |
1: 58,947,849 (GRCm39) |
V597E |
probably benign |
Het |
| Usp17lb |
T |
A |
7: 104,490,394 (GRCm39) |
I177F |
probably damaging |
Het |
| Zfp410 |
A |
G |
12: 84,378,414 (GRCm39) |
E193G |
probably benign |
Het |
|
| Other mutations in Rbm44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00158:Rbm44
|
APN |
1 |
91,084,831 (GRCm39) |
missense |
probably benign |
|
|
IGL01089:Rbm44
|
APN |
1 |
91,096,419 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01339:Rbm44
|
APN |
1 |
91,096,686 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL01410:Rbm44
|
APN |
1 |
91,096,551 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01624:Rbm44
|
APN |
1 |
91,084,380 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01963:Rbm44
|
APN |
1 |
91,090,830 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02067:Rbm44
|
APN |
1 |
91,080,567 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02513:Rbm44
|
APN |
1 |
91,083,260 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02804:Rbm44
|
APN |
1 |
91,077,898 (GRCm39) |
intron |
probably benign |
|
|
IGL02806:Rbm44
|
APN |
1 |
91,080,799 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02887:Rbm44
|
APN |
1 |
91,080,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03309:Rbm44
|
APN |
1 |
91,096,562 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0360:Rbm44
|
UTSW |
1 |
91,080,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0364:Rbm44
|
UTSW |
1 |
91,080,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0647:Rbm44
|
UTSW |
1 |
91,084,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1345:Rbm44
|
UTSW |
1 |
91,080,481 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1352:Rbm44
|
UTSW |
1 |
91,080,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1575:Rbm44
|
UTSW |
1 |
91,084,565 (GRCm39) |
splice site |
probably null |
|
|
R1768:Rbm44
|
UTSW |
1 |
91,081,679 (GRCm39) |
splice site |
probably null |
|
|
R4901:Rbm44
|
UTSW |
1 |
91,081,050 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4913:Rbm44
|
UTSW |
1 |
91,083,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5023:Rbm44
|
UTSW |
1 |
91,096,820 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5569:Rbm44
|
UTSW |
1 |
91,096,460 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5874:Rbm44
|
UTSW |
1 |
91,084,562 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6441:Rbm44
|
UTSW |
1 |
91,084,799 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6515:Rbm44
|
UTSW |
1 |
91,092,860 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7380:Rbm44
|
UTSW |
1 |
91,079,938 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7783:Rbm44
|
UTSW |
1 |
91,096,551 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8004:Rbm44
|
UTSW |
1 |
91,079,880 (GRCm39) |
splice site |
probably benign |
|
|
R8678:Rbm44
|
UTSW |
1 |
91,080,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8891:Rbm44
|
UTSW |
1 |
91,090,136 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1176:Rbm44
|
UTSW |
1 |
91,081,122 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATCCTGAAGTGCACAAAAGAGTAG -3'
(R):5'- AGCTGCTTCTCTGTAAAATGCC -3'
Sequencing Primer
(F):5'- GCACAAAAGAGTAGAGATGATTTTTG -3'
(R):5'- CTCTGTAAAATGCCATCAAATGC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation