Incidental Mutation 'R2007:Gemin4'
| ID |
222531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gemin4
|
| Ensembl Gene |
ENSMUSG00000049396 |
| Gene Name |
gem nuclear organelle associated protein 4 |
| Synonyms |
|
| MMRRC Submission |
040016-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R2007 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
76101397-76108398 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 76103444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 439
(A439V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099558
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040806]
[ENSMUST00000094014]
[ENSMUST00000102500]
[ENSMUST00000129853]
[ENSMUST00000169701]
[ENSMUST00000169560]
|
| AlphaFold |
Q6P6L6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040806
|
| SMART Domains |
Protein: ENSMUSP00000039763
Gene: ENSMUSG00000038057
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACBP
|
3 |
83 |
7.4e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094014
|
| SMART Domains |
Protein: ENSMUSP00000091553
Gene: ENSMUSG00000069808
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
TLC
|
33 |
249 |
7.47e-34 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102500
AA Change: A439V
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127340
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129853
|
| SMART Domains |
Protein: ENSMUSP00000114936
Gene: ENSMUSG00000069808
| Domain | Start | End | E-Value | Type |
|---|
|
TLC
|
1 |
166 |
6.2e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143822
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169532
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169701
|
| SMART Domains |
Protein: ENSMUSP00000131174
Gene: ENSMUSG00000017286
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyoxalase_2
|
143 |
256 |
2.7e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169560
|
| SMART Domains |
Protein: ENSMUSP00000131151
Gene: ENSMUSG00000069808
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
TLC
|
33 |
217 |
4.92e-11 |
SMART |
|
| Meta Mutation Damage Score |
0.0920 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
96% (66/69) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele die before E5.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,519,855 (GRCm39) |
N1387K |
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,141,987 (GRCm39) |
F8L |
probably benign |
Het |
| Abcg5 |
G |
T |
17: 84,977,348 (GRCm39) |
L270M |
probably damaging |
Het |
| Acad10 |
A |
G |
5: 121,772,814 (GRCm39) |
L489S |
probably damaging |
Het |
| Acsf2 |
G |
A |
11: 94,462,466 (GRCm39) |
T183I |
possibly damaging |
Het |
| Adamts7 |
A |
T |
9: 90,059,909 (GRCm39) |
E282V |
probably damaging |
Het |
| Adcy4 |
C |
T |
14: 56,015,770 (GRCm39) |
G440R |
possibly damaging |
Het |
| AI429214 |
G |
A |
8: 37,460,923 (GRCm39) |
V24I |
probably benign |
Het |
| Angptl3 |
T |
C |
4: 98,925,634 (GRCm39) |
I320T |
probably damaging |
Het |
| Apoa5 |
A |
T |
9: 46,181,665 (GRCm39) |
Q247L |
possibly damaging |
Het |
| Astn1 |
T |
G |
1: 158,436,875 (GRCm39) |
V811G |
probably damaging |
Het |
| Bard1 |
C |
T |
1: 71,070,562 (GRCm39) |
V641I |
probably benign |
Het |
| Calb2 |
T |
C |
8: 110,894,702 (GRCm39) |
E23G |
probably benign |
Het |
| Cdkl4 |
A |
G |
17: 80,863,730 (GRCm39) |
|
probably benign |
Het |
| Cep85l |
A |
G |
10: 53,154,171 (GRCm39) |
|
probably benign |
Het |
| Cfap91 |
T |
C |
16: 38,118,616 (GRCm39) |
I728V |
probably benign |
Het |
| Chd1 |
G |
T |
17: 15,951,268 (GRCm39) |
G281V |
probably damaging |
Het |
| Col17a1 |
C |
T |
19: 47,656,141 (GRCm39) |
G586E |
probably damaging |
Het |
| Cpne3 |
T |
A |
4: 19,553,833 (GRCm39) |
D66V |
probably damaging |
Het |
| Csde1 |
A |
T |
3: 102,952,107 (GRCm39) |
I204L |
probably damaging |
Het |
| Dchs1 |
A |
T |
7: 105,404,532 (GRCm39) |
V2670E |
probably damaging |
Het |
| Ddx10 |
A |
G |
9: 53,124,578 (GRCm39) |
V428A |
probably benign |
Het |
| Dgkh |
T |
A |
14: 78,840,489 (GRCm39) |
D530V |
probably benign |
Het |
| Dis3l |
A |
T |
9: 64,215,558 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
G |
1: 34,265,093 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
C |
T |
11: 29,798,814 (GRCm39) |
|
probably null |
Het |
| En1 |
A |
T |
1: 120,531,133 (GRCm39) |
E124D |
probably benign |
Het |
| Exo1 |
G |
A |
1: 175,736,096 (GRCm39) |
E827K |
probably damaging |
Het |
| Fktn |
T |
C |
4: 53,735,099 (GRCm39) |
F246L |
possibly damaging |
Het |
| Fndc1 |
G |
A |
17: 7,997,580 (GRCm39) |
|
probably benign |
Het |
| Foxp2 |
G |
A |
6: 15,396,818 (GRCm39) |
C381Y |
probably damaging |
Het |
| Galnt6 |
A |
T |
15: 100,595,047 (GRCm39) |
Y485N |
probably damaging |
Het |
| Gpatch8 |
A |
G |
11: 102,391,657 (GRCm39) |
I155T |
unknown |
Het |
| Hmcn2 |
A |
G |
2: 31,328,267 (GRCm39) |
D4316G |
possibly damaging |
Het |
| Hnrnpr |
T |
A |
4: 136,046,824 (GRCm39) |
|
probably benign |
Het |
| Hpx |
G |
A |
7: 105,244,781 (GRCm39) |
R135C |
probably damaging |
Het |
| Khdrbs2 |
T |
G |
1: 32,559,629 (GRCm39) |
E151A |
probably benign |
Het |
| Krt6b |
A |
T |
15: 101,586,562 (GRCm39) |
L309H |
probably damaging |
Het |
| Lce1c |
G |
T |
3: 92,587,765 (GRCm39) |
C64F |
unknown |
Het |
| Marchf6 |
C |
T |
15: 31,462,087 (GRCm39) |
|
probably null |
Het |
| Myt1 |
C |
A |
2: 181,437,552 (GRCm39) |
R88S |
probably benign |
Het |
| Nemp1 |
A |
G |
10: 127,529,446 (GRCm39) |
S194G |
probably benign |
Het |
| Nphp4 |
A |
G |
4: 152,639,111 (GRCm39) |
K914R |
probably damaging |
Het |
| Or3a1 |
T |
A |
11: 74,225,212 (GRCm39) |
T282S |
possibly damaging |
Het |
| Osbp |
T |
C |
19: 11,951,265 (GRCm39) |
M270T |
probably benign |
Het |
| Parg |
T |
C |
14: 31,932,531 (GRCm39) |
M457T |
possibly damaging |
Het |
| Phf20 |
T |
C |
2: 156,129,874 (GRCm39) |
M482T |
probably benign |
Het |
| Pik3c2a |
G |
A |
7: 115,941,472 (GRCm39) |
T1598I |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,798,759 (GRCm39) |
M2689T |
probably damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,944,216 (GRCm39) |
V1091E |
probably damaging |
Het |
| Ptcd2 |
A |
T |
13: 99,456,744 (GRCm39) |
L360Q |
probably damaging |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Serpinc1 |
A |
T |
1: 160,821,110 (GRCm39) |
T65S |
probably benign |
Het |
| Sipa1l2 |
G |
A |
8: 126,166,176 (GRCm39) |
T1486I |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,068,968 (GRCm39) |
L949P |
probably damaging |
Het |
| Ssc5d |
T |
G |
7: 4,931,628 (GRCm39) |
C278W |
probably damaging |
Het |
| Tbc1d14 |
T |
G |
5: 36,728,718 (GRCm39) |
H216P |
possibly damaging |
Het |
| Tmem183a |
A |
G |
1: 134,277,861 (GRCm39) |
F301S |
probably damaging |
Het |
| Tmem233 |
A |
C |
5: 116,189,496 (GRCm39) |
N94K |
possibly damaging |
Het |
| Tmprss13 |
A |
G |
9: 45,243,843 (GRCm39) |
D193G |
probably damaging |
Het |
| Tprkb |
T |
C |
6: 85,910,030 (GRCm39) |
|
probably benign |
Het |
| Tram1l1 |
A |
G |
3: 124,115,488 (GRCm39) |
H216R |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,564,484 (GRCm39) |
V28551A |
probably damaging |
Het |
| Ubtfl1 |
A |
G |
9: 18,320,547 (GRCm39) |
N25S |
possibly damaging |
Het |
| Unc80 |
C |
A |
1: 66,542,935 (GRCm39) |
N396K |
probably damaging |
Het |
| Vmn1r171 |
T |
C |
7: 23,332,012 (GRCm39) |
L79P |
probably damaging |
Het |
| Vmn2r115 |
G |
T |
17: 23,566,927 (GRCm39) |
V480F |
possibly damaging |
Het |
| Xpo4 |
T |
C |
14: 57,824,101 (GRCm39) |
I995V |
probably null |
Het |
|
| Other mutations in Gemin4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01412:Gemin4
|
APN |
11 |
76,104,311 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01654:Gemin4
|
APN |
11 |
76,104,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01656:Gemin4
|
APN |
11 |
76,104,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02890:Gemin4
|
APN |
11 |
76,102,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02967:Gemin4
|
APN |
11 |
76,103,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0359:Gemin4
|
UTSW |
11 |
76,102,988 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0413:Gemin4
|
UTSW |
11 |
76,102,148 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1538:Gemin4
|
UTSW |
11 |
76,101,987 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1632:Gemin4
|
UTSW |
11 |
76,101,815 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1762:Gemin4
|
UTSW |
11 |
76,101,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Gemin4
|
UTSW |
11 |
76,101,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1784:Gemin4
|
UTSW |
11 |
76,101,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1785:Gemin4
|
UTSW |
11 |
76,101,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1786:Gemin4
|
UTSW |
11 |
76,101,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1835:Gemin4
|
UTSW |
11 |
76,104,122 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2117:Gemin4
|
UTSW |
11 |
76,101,827 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2131:Gemin4
|
UTSW |
11 |
76,101,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Gemin4
|
UTSW |
11 |
76,101,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2140:Gemin4
|
UTSW |
11 |
76,101,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2141:Gemin4
|
UTSW |
11 |
76,101,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2142:Gemin4
|
UTSW |
11 |
76,101,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3937:Gemin4
|
UTSW |
11 |
76,103,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4112:Gemin4
|
UTSW |
11 |
76,103,645 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4444:Gemin4
|
UTSW |
11 |
76,102,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5502:Gemin4
|
UTSW |
11 |
76,104,227 (GRCm39) |
nonsense |
probably null |
|
|
R5702:Gemin4
|
UTSW |
11 |
76,101,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5744:Gemin4
|
UTSW |
11 |
76,102,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6044:Gemin4
|
UTSW |
11 |
76,103,760 (GRCm39) |
missense |
probably benign |
|
|
R6924:Gemin4
|
UTSW |
11 |
76,103,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6931:Gemin4
|
UTSW |
11 |
76,101,782 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7278:Gemin4
|
UTSW |
11 |
76,102,932 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7286:Gemin4
|
UTSW |
11 |
76,103,579 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7288:Gemin4
|
UTSW |
11 |
76,104,206 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7358:Gemin4
|
UTSW |
11 |
76,104,278 (GRCm39) |
nonsense |
probably null |
|
|
R7572:Gemin4
|
UTSW |
11 |
76,104,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8132:Gemin4
|
UTSW |
11 |
76,103,739 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8345:Gemin4
|
UTSW |
11 |
76,101,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8695:Gemin4
|
UTSW |
11 |
76,102,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8902:Gemin4
|
UTSW |
11 |
76,102,848 (GRCm39) |
nonsense |
probably null |
|
|
R9233:Gemin4
|
UTSW |
11 |
76,103,942 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9495:Gemin4
|
UTSW |
11 |
76,101,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Gemin4
|
UTSW |
11 |
76,108,405 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGCCCCAAATAATGCAGG -3'
(R):5'- AGGTGGTCTCAGAATTGGC -3'
Sequencing Primer
(F):5'- GGACACCAGAAAGAACTTTATTTTTG -3'
(R):5'- TCAGAATTGGCTGAGTGTGTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation