Incidental Mutation 'R1352:Rbm44'
ID |
156685 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbm44
|
Ensembl Gene |
ENSMUSG00000070732 |
Gene Name |
RNA binding motif protein 44 |
Synonyms |
LOC329207 |
MMRRC Submission |
039417-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R1352 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
91072811-91098517 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 91080764 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 317
(D317E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092286
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094698]
[ENSMUST00000188818]
|
AlphaFold |
Q3V089 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094698
AA Change: D317E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000092286 Gene: ENSMUSG00000070732 AA Change: D317E
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 |
probably benign
Transcript: ENSMUST00000188818
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.5%
|
Validation Efficiency |
95% (42/44) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
A |
G |
7: 45,784,892 (GRCm39) |
|
probably benign |
Het |
Acbd3 |
T |
A |
1: 180,566,095 (GRCm39) |
Y263N |
probably damaging |
Het |
Aldh4a1 |
T |
C |
4: 139,362,830 (GRCm39) |
V142A |
probably benign |
Het |
Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
Cass4 |
T |
C |
2: 172,258,415 (GRCm39) |
S138P |
probably damaging |
Het |
Cbln4 |
T |
C |
2: 171,879,376 (GRCm39) |
K171E |
possibly damaging |
Het |
Cd226 |
A |
G |
18: 89,265,298 (GRCm39) |
Y79C |
probably damaging |
Het |
Dclre1a |
T |
C |
19: 56,533,595 (GRCm39) |
D333G |
probably damaging |
Het |
Dst |
T |
A |
1: 34,268,329 (GRCm39) |
|
probably null |
Het |
Eml5 |
A |
G |
12: 98,797,262 (GRCm39) |
|
probably benign |
Het |
Evx1 |
T |
C |
6: 52,293,995 (GRCm39) |
S388P |
probably damaging |
Het |
Gins1 |
T |
A |
2: 150,772,768 (GRCm39) |
L177* |
probably null |
Het |
Gm5422 |
A |
C |
10: 31,126,731 (GRCm39) |
|
noncoding transcript |
Het |
Gmppa |
T |
A |
1: 75,417,178 (GRCm39) |
D204E |
probably benign |
Het |
Ifna7 |
A |
C |
4: 88,734,897 (GRCm39) |
T145P |
possibly damaging |
Het |
Inhbb |
T |
C |
1: 119,348,425 (GRCm39) |
D131G |
probably benign |
Het |
Itpr2 |
T |
C |
6: 146,013,240 (GRCm39) |
K2679E |
probably damaging |
Het |
Kif20b |
C |
A |
19: 34,902,035 (GRCm39) |
H4N |
probably benign |
Het |
Kng1 |
G |
T |
16: 22,886,444 (GRCm39) |
|
probably null |
Het |
Lrrfip1 |
C |
T |
1: 91,043,089 (GRCm39) |
A498V |
probably benign |
Het |
Myo3a |
T |
A |
2: 22,328,486 (GRCm39) |
|
probably null |
Het |
Nkapl |
T |
C |
13: 21,652,230 (GRCm39) |
R128G |
unknown |
Het |
Or51v8 |
T |
C |
7: 103,319,518 (GRCm39) |
H240R |
probably damaging |
Het |
Or5bw2 |
A |
T |
7: 6,573,782 (GRCm39) |
Y264F |
probably benign |
Het |
Prlr |
T |
C |
15: 10,328,872 (GRCm39) |
V449A |
probably benign |
Het |
Sirt5 |
T |
C |
13: 43,548,283 (GRCm39) |
S310P |
probably damaging |
Het |
Spice1 |
T |
C |
16: 44,207,185 (GRCm39) |
S856P |
probably damaging |
Het |
Sptan1 |
T |
A |
2: 29,911,199 (GRCm39) |
|
probably benign |
Het |
St6gal1 |
A |
G |
16: 23,140,401 (GRCm39) |
K191E |
probably damaging |
Het |
Stat6 |
A |
T |
10: 127,486,680 (GRCm39) |
Q152L |
probably benign |
Het |
Stk3 |
T |
C |
15: 35,008,371 (GRCm39) |
D253G |
probably damaging |
Het |
Tas2r139 |
C |
T |
6: 42,117,874 (GRCm39) |
A2V |
probably benign |
Het |
Tfpi2 |
A |
G |
6: 3,968,281 (GRCm39) |
L15P |
probably damaging |
Het |
Topbp1 |
T |
A |
9: 103,224,207 (GRCm39) |
C1445S |
probably benign |
Het |
Trappc11 |
A |
T |
8: 47,978,081 (GRCm39) |
H195Q |
possibly damaging |
Het |
Ttc21a |
A |
T |
9: 119,783,718 (GRCm39) |
E600V |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,677,041 (GRCm39) |
|
probably benign |
Het |
Vmn2r88 |
T |
C |
14: 51,656,007 (GRCm39) |
S740P |
probably damaging |
Het |
Wrn |
A |
C |
8: 33,784,944 (GRCm39) |
V476G |
probably benign |
Het |
Zdbf2 |
C |
A |
1: 63,342,212 (GRCm39) |
A197E |
probably damaging |
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 |
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 |
|
R5981:Rbm44
|
UTSW |
1 |
91,080,411 (GRCm39) |
missense |
possibly damaging |
0.61 |
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'- AGCCCCTCTTTGGAGTCCCTTAATG -3'
(R):5'- GGTAATCTGTGACTGCCACCCTTG -3'
Sequencing Primer
(F):5'- GAGTCCCTTAATGGTTTTGCACAAG -3'
(R):5'- AAAAAGCCCGGCTCAGG -3'
|
Posted On |
2014-02-11 |