Incidental Mutation 'R6876:Gimap3'
| ID |
536411 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gimap3
|
| Ensembl Gene |
ENSMUSG00000039264 |
| Gene Name |
GTPase, IMAP family member 3 |
| Synonyms |
2010110D23Rik, Ian4 |
| MMRRC Submission |
044972-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6876 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
48741398-48747785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 48742855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 25
(I25N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145211
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038811]
[ENSMUST00000204036]
|
| AlphaFold |
Q99MI6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038811
AA Change: I25N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047435
Gene: ENSMUSG00000039264
AA Change: I25N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
20 |
N/A |
INTRINSIC |
|
Pfam:AIG1
|
23 |
234 |
1.5e-79 |
PFAM |
|
Pfam:MMR_HSR1
|
24 |
147 |
5.3e-8 |
PFAM |
|
transmembrane domain
|
280 |
299 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204036
AA Change: I25N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145211
Gene: ENSMUSG00000039264
AA Change: I25N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
20 |
N/A |
INTRINSIC |
|
Pfam:AIG1
|
23 |
234 |
1.5e-79 |
PFAM |
|
Pfam:MMR_HSR1
|
24 |
147 |
5.3e-8 |
PFAM |
|
transmembrane domain
|
280 |
299 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a mitochondrial membrane protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. The expression of this gene is induced in BCR/ABL-expressing cells. The encoded protein lacks an N-terminal mitochondrial signal sequence. Experimental studies showed that mitochondrial localization relies on the C-terminal transmembrane domain. In humans, the IAN subfamily genes are located in a cluster at 7q36.1 [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
C |
5: 77,044,288 (GRCm39) |
T201A |
probably damaging |
Het |
| Abca12 |
T |
A |
1: 71,302,667 (GRCm39) |
D2184V |
probably damaging |
Het |
| Abcf1 |
C |
T |
17: 36,270,136 (GRCm39) |
D641N |
probably benign |
Het |
| Adgrv1 |
C |
A |
13: 81,303,273 (GRCm39) |
|
probably null |
Het |
| Aftph |
T |
C |
11: 20,659,744 (GRCm39) |
E693G |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,991,484 (GRCm39) |
D4256G |
probably damaging |
Het |
| Arv1 |
A |
G |
8: 125,457,651 (GRCm39) |
K185R |
probably damaging |
Het |
| Ces4a |
T |
A |
8: 105,871,624 (GRCm39) |
V258D |
possibly damaging |
Het |
| Col6a5 |
T |
C |
9: 105,814,506 (GRCm39) |
D502G |
unknown |
Het |
| Diaph1 |
A |
T |
18: 38,029,426 (GRCm39) |
H335Q |
unknown |
Het |
| Dtna |
G |
A |
18: 23,744,167 (GRCm39) |
V404I |
probably benign |
Het |
| Ephb1 |
T |
C |
9: 101,861,319 (GRCm39) |
D615G |
probably damaging |
Het |
| Hao1 |
A |
G |
2: 134,343,069 (GRCm39) |
V274A |
probably benign |
Het |
| Hirip3 |
T |
C |
7: 126,463,321 (GRCm39) |
S426P |
probably damaging |
Het |
| Igkv4-69 |
T |
C |
6: 69,260,818 (GRCm39) |
D103G |
probably damaging |
Het |
| Kdm8 |
T |
C |
7: 125,051,830 (GRCm39) |
V141A |
probably benign |
Het |
| Mink1 |
G |
T |
11: 70,498,261 (GRCm39) |
A553S |
probably benign |
Het |
| Mpl |
T |
A |
4: 118,314,317 (GRCm39) |
Y60F |
probably damaging |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Myo5a |
C |
A |
9: 75,067,772 (GRCm39) |
R609S |
probably benign |
Het |
| Myo5b |
A |
T |
18: 74,841,026 (GRCm39) |
H969L |
probably benign |
Het |
| Or1n2 |
T |
A |
2: 36,797,834 (GRCm39) |
I292N |
probably damaging |
Het |
| Or2h2c |
G |
C |
17: 37,422,098 (GRCm39) |
Q259E |
probably damaging |
Het |
| Or2y16 |
T |
C |
11: 49,335,068 (GRCm39) |
L130P |
probably damaging |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Prodh2 |
T |
A |
7: 30,205,925 (GRCm39) |
W207R |
probably damaging |
Het |
| Qng1 |
T |
C |
13: 58,532,910 (GRCm39) |
D20G |
probably damaging |
Het |
| Rfx6 |
A |
G |
10: 51,596,087 (GRCm39) |
K457E |
probably damaging |
Het |
| Sim1 |
A |
G |
10: 50,859,791 (GRCm39) |
E551G |
possibly damaging |
Het |
| Soat2 |
T |
C |
15: 102,069,049 (GRCm39) |
F358S |
probably damaging |
Het |
| Tes3-ps |
A |
G |
13: 49,647,195 (GRCm39) |
K24E |
probably benign |
Het |
| Txndc16 |
A |
G |
14: 45,400,497 (GRCm39) |
F335L |
possibly damaging |
Het |
| Unc45b |
T |
C |
11: 82,813,738 (GRCm39) |
Y382H |
probably benign |
Het |
| Vmn2r60 |
A |
G |
7: 41,785,087 (GRCm39) |
T100A |
probably null |
Het |
| Vmn2r93 |
T |
A |
17: 18,525,450 (GRCm39) |
H369Q |
probably benign |
Het |
| Yy1 |
A |
G |
12: 108,772,518 (GRCm39) |
I265V |
probably benign |
Het |
| Zfp54 |
A |
T |
17: 21,654,239 (GRCm39) |
K244N |
probably damaging |
Het |
|
| Other mutations in Gimap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01763:Gimap3
|
APN |
6 |
48,742,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02141:Gimap3
|
APN |
6 |
48,742,312 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02751:Gimap3
|
APN |
6 |
48,742,172 (GRCm39) |
missense |
probably benign |
|
|
R0333:Gimap3
|
UTSW |
6 |
48,742,664 (GRCm39) |
nonsense |
probably null |
|
|
R1081:Gimap3
|
UTSW |
6 |
48,742,086 (GRCm39) |
nonsense |
probably null |
|
|
R1911:Gimap3
|
UTSW |
6 |
48,742,646 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1936:Gimap3
|
UTSW |
6 |
48,742,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2990:Gimap3
|
UTSW |
6 |
48,742,785 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4052:Gimap3
|
UTSW |
6 |
48,743,447 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4433:Gimap3
|
UTSW |
6 |
48,742,880 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4571:Gimap3
|
UTSW |
6 |
48,742,654 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4672:Gimap3
|
UTSW |
6 |
48,742,687 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4709:Gimap3
|
UTSW |
6 |
48,742,327 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5094:Gimap3
|
UTSW |
6 |
48,742,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5510:Gimap3
|
UTSW |
6 |
48,742,183 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7359:Gimap3
|
UTSW |
6 |
48,742,280 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7923:Gimap3
|
UTSW |
6 |
48,742,561 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8322:Gimap3
|
UTSW |
6 |
48,742,370 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9009:Gimap3
|
UTSW |
6 |
48,742,094 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9051:Gimap3
|
UTSW |
6 |
48,742,259 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGTCTCCGATGTCCTTG -3'
(R):5'- TTGATCCCAGAAGTCCCCTGTG -3'
Sequencing Primer
(F):5'- CCATGTCTTGGTTCTGGGCC -3'
(R):5'- CAGAAGTCCCCTGTGTGATG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation