Incidental Mutation 'R9248:Jakmip2'
| ID |
701395 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jakmip2
|
| Ensembl Gene |
ENSMUSG00000024502 |
| Gene Name |
janus kinase and microtubule interacting protein 2 |
| Synonyms |
6430702L21Rik, D930046L20Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.316)
|
| Stock # |
R9248 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
43664472-43820838 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 43685242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 682
(M682R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082254]
|
| AlphaFold |
D3YXK0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082254
AA Change: M682R
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502
AA Change: M682R
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
13 |
102 |
N/A |
INTRINSIC |
|
coiled coil region
|
206 |
249 |
N/A |
INTRINSIC |
|
Pfam:JAKMIP_CC3
|
409 |
602 |
2.3e-86 |
PFAM |
|
coiled coil region
|
698 |
808 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (55/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is reported to be a component of the Golgi matrix. It may act as a golgin protein by negatively regulating transit of secretory cargo and by acting as a structural scaffold of the Golgi. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1b |
T |
C |
9: 118,983,002 (GRCm39) |
N132S |
probably benign |
Het |
| Agpat2 |
A |
G |
2: 26,483,601 (GRCm39) |
*279Q |
probably null |
Het |
| Akr1c19 |
C |
A |
13: 4,292,974 (GRCm39) |
D243E |
probably benign |
Het |
| Alg2 |
A |
G |
4: 47,474,001 (GRCm39) |
F96L |
probably benign |
Het |
| Apob |
C |
T |
12: 8,065,231 (GRCm39) |
Q4067* |
probably null |
Het |
| C1ra |
A |
T |
6: 124,489,580 (GRCm39) |
|
probably benign |
Het |
| C8a |
T |
C |
4: 104,703,199 (GRCm39) |
Y330C |
probably damaging |
Het |
| Ccdc185 |
A |
G |
1: 182,576,221 (GRCm39) |
V156A |
probably benign |
Het |
| Ces1g |
A |
G |
8: 94,060,319 (GRCm39) |
L100P |
possibly damaging |
Het |
| Cnbd1 |
T |
C |
4: 18,862,113 (GRCm39) |
N359S |
possibly damaging |
Het |
| Crybb2 |
C |
T |
5: 113,211,094 (GRCm39) |
A65T |
probably benign |
Het |
| Dcaf5 |
T |
C |
12: 80,386,563 (GRCm39) |
D521G |
probably benign |
Het |
| Dnmt1 |
A |
G |
9: 20,833,408 (GRCm39) |
F631L |
possibly damaging |
Het |
| Dok1 |
T |
A |
6: 83,008,893 (GRCm39) |
D263V |
possibly damaging |
Het |
| Ecel1 |
A |
G |
1: 87,081,112 (GRCm39) |
F293L |
probably benign |
Het |
| Ehmt1 |
A |
T |
2: 24,738,077 (GRCm39) |
L509Q |
possibly damaging |
Het |
| Fbln2 |
T |
A |
6: 91,231,556 (GRCm39) |
V551E |
possibly damaging |
Het |
| Fig4 |
C |
T |
10: 41,153,478 (GRCm39) |
V108I |
probably benign |
Het |
| Gpa33 |
A |
G |
1: 165,991,396 (GRCm39) |
Y209C |
probably damaging |
Het |
| Heatr5a |
T |
C |
12: 51,963,026 (GRCm39) |
H52R |
|
Het |
| Heatr9 |
A |
T |
11: 83,409,281 (GRCm39) |
D157E |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Layn |
A |
G |
9: 50,968,760 (GRCm39) |
S328P |
possibly damaging |
Het |
| Mblac2 |
A |
G |
13: 81,859,769 (GRCm39) |
D41G |
probably damaging |
Het |
| Mboat1 |
A |
G |
13: 30,410,392 (GRCm39) |
Y283C |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,736,226 (GRCm39) |
V334A |
possibly damaging |
Het |
| Mroh4 |
C |
T |
15: 74,485,167 (GRCm39) |
R515H |
possibly damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Nsrp1 |
G |
A |
11: 76,937,036 (GRCm39) |
R387W |
probably benign |
Het |
| Or5p59 |
T |
C |
7: 107,703,256 (GRCm39) |
S247P |
probably damaging |
Het |
| Or8c16 |
T |
C |
9: 38,130,706 (GRCm39) |
Y193H |
probably benign |
Het |
| Ostm1 |
T |
C |
10: 42,574,210 (GRCm39) |
V301A |
probably damaging |
Het |
| Pcdhb13 |
A |
T |
18: 37,577,608 (GRCm39) |
D662V |
probably damaging |
Het |
| Pfpl |
T |
A |
19: 12,406,374 (GRCm39) |
S208R |
probably damaging |
Het |
| Plin5 |
A |
T |
17: 56,419,324 (GRCm39) |
V366E |
probably damaging |
Het |
| Rmi1 |
A |
G |
13: 58,556,899 (GRCm39) |
I383V |
probably benign |
Het |
| Rnh1 |
T |
C |
7: 140,740,714 (GRCm39) |
T414A |
probably benign |
Het |
| Sash1 |
C |
A |
10: 8,617,296 (GRCm39) |
G537W |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,370,551 (GRCm39) |
N264S |
probably benign |
Het |
| Speg |
A |
C |
1: 75,398,420 (GRCm39) |
T1956P |
probably damaging |
Het |
| St14 |
T |
C |
9: 31,002,905 (GRCm39) |
Y666C |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,727,481 (GRCm39) |
H1448L |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,154,230 (GRCm39) |
|
probably benign |
Het |
| Taf9 |
T |
A |
13: 100,790,860 (GRCm39) |
|
probably benign |
Het |
| Thumpd2 |
G |
A |
17: 81,334,040 (GRCm39) |
A516V |
possibly damaging |
Het |
| Tmem132e |
A |
G |
11: 82,335,308 (GRCm39) |
K797E |
probably damaging |
Het |
| Tpte |
A |
G |
8: 22,841,489 (GRCm39) |
T494A |
possibly damaging |
Het |
| Ttc41 |
T |
A |
10: 86,567,113 (GRCm39) |
L593Q |
probably benign |
Het |
| Uggt1 |
A |
C |
1: 36,249,103 (GRCm39) |
I279S |
possibly damaging |
Het |
| Uxs1 |
A |
G |
1: 43,804,084 (GRCm39) |
F277S |
probably damaging |
Het |
| Vat1 |
A |
T |
11: 101,351,380 (GRCm39) |
N320K |
possibly damaging |
Het |
| Wdr81 |
G |
T |
11: 75,336,256 (GRCm39) |
A592E |
|
Het |
| Zfp780b |
C |
T |
7: 27,673,143 (GRCm39) |
|
probably null |
Het |
| Zfp944 |
A |
T |
17: 22,562,619 (GRCm39) |
|
probably null |
Het |
| Zfp956 |
G |
T |
6: 47,934,437 (GRCm39) |
G136W |
possibly damaging |
Het |
|
| Other mutations in Jakmip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01154:Jakmip2
|
APN |
18 |
43,723,744 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01311:Jakmip2
|
APN |
18 |
43,690,389 (GRCm39) |
splice site |
probably benign |
|
|
IGL01467:Jakmip2
|
APN |
18 |
43,715,352 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL01947:Jakmip2
|
APN |
18 |
43,680,159 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02010:Jakmip2
|
APN |
18 |
43,692,158 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02040:Jakmip2
|
APN |
18 |
43,704,919 (GRCm39) |
missense |
probably benign |
|
|
IGL02143:Jakmip2
|
APN |
18 |
43,696,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02246:Jakmip2
|
APN |
18 |
43,700,223 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02350:Jakmip2
|
APN |
18 |
43,680,192 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02357:Jakmip2
|
APN |
18 |
43,680,192 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02725:Jakmip2
|
APN |
18 |
43,695,655 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02833:Jakmip2
|
APN |
18 |
43,708,516 (GRCm39) |
splice site |
probably benign |
|
|
IGL02866:Jakmip2
|
APN |
18 |
43,685,266 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02981:Jakmip2
|
APN |
18 |
43,695,595 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0042:Jakmip2
|
UTSW |
18 |
43,685,210 (GRCm39) |
splice site |
probably benign |
|
|
R0044:Jakmip2
|
UTSW |
18 |
43,715,170 (GRCm39) |
missense |
probably benign |
|
|
R0436:Jakmip2
|
UTSW |
18 |
43,691,234 (GRCm39) |
nonsense |
probably null |
|
|
R1453:Jakmip2
|
UTSW |
18 |
43,692,279 (GRCm39) |
splice site |
probably null |
|
|
R1682:Jakmip2
|
UTSW |
18 |
43,714,896 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1829:Jakmip2
|
UTSW |
18 |
43,715,145 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1908:Jakmip2
|
UTSW |
18 |
43,700,209 (GRCm39) |
missense |
probably benign |
|
|
R2070:Jakmip2
|
UTSW |
18 |
43,696,395 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2168:Jakmip2
|
UTSW |
18 |
43,698,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2985:Jakmip2
|
UTSW |
18 |
43,704,246 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3896:Jakmip2
|
UTSW |
18 |
43,682,751 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4243:Jakmip2
|
UTSW |
18 |
43,710,501 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4245:Jakmip2
|
UTSW |
18 |
43,710,501 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4614:Jakmip2
|
UTSW |
18 |
43,695,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4687:Jakmip2
|
UTSW |
18 |
43,710,477 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4830:Jakmip2
|
UTSW |
18 |
43,700,208 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4852:Jakmip2
|
UTSW |
18 |
43,710,465 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5099:Jakmip2
|
UTSW |
18 |
43,701,173 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5381:Jakmip2
|
UTSW |
18 |
43,715,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5753:Jakmip2
|
UTSW |
18 |
43,692,181 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5883:Jakmip2
|
UTSW |
18 |
43,715,059 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6261:Jakmip2
|
UTSW |
18 |
43,708,599 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6382:Jakmip2
|
UTSW |
18 |
43,704,244 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6527:Jakmip2
|
UTSW |
18 |
43,689,589 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6612:Jakmip2
|
UTSW |
18 |
43,690,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6679:Jakmip2
|
UTSW |
18 |
43,699,014 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7070:Jakmip2
|
UTSW |
18 |
43,690,393 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7103:Jakmip2
|
UTSW |
18 |
43,673,648 (GRCm39) |
splice site |
probably null |
|
|
R7434:Jakmip2
|
UTSW |
18 |
43,690,444 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7446:Jakmip2
|
UTSW |
18 |
43,710,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7515:Jakmip2
|
UTSW |
18 |
43,704,191 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7586:Jakmip2
|
UTSW |
18 |
43,673,676 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7720:Jakmip2
|
UTSW |
18 |
43,704,973 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7999:Jakmip2
|
UTSW |
18 |
43,696,398 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9002:Jakmip2
|
UTSW |
18 |
43,715,323 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9184:Jakmip2
|
UTSW |
18 |
43,715,352 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9252:Jakmip2
|
UTSW |
18 |
43,715,194 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9674:Jakmip2
|
UTSW |
18 |
43,704,961 (GRCm39) |
missense |
probably benign |
|
|
R9691:Jakmip2
|
UTSW |
18 |
43,673,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9788:Jakmip2
|
UTSW |
18 |
43,704,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0057:Jakmip2
|
UTSW |
18 |
43,699,035 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTGGGGAAAGACTAGAGCTG -3'
(R):5'- TAACACTCCTTCAGACTCCTGG -3'
Sequencing Primer
(F):5'- AGACTAGAGCTGGAGGTTATGTTAC -3'
(R):5'- TTCAGACTCCTGGAGATAAAAGTGC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation