Incidental Mutation 'R6611:Irx3'
| ID |
523579 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irx3
|
| Ensembl Gene |
ENSMUSG00000031734 |
| Gene Name |
Iroquois related homeobox 3 |
| Synonyms |
|
| MMRRC Submission |
044734-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6611 (G1)
|
| Quality Score |
98.0078 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
92525139-92528282 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92526631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 358
(T358A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093312]
[ENSMUST00000175795]
|
| AlphaFold |
P81067 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000062522
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093312
AA Change: T358A
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000091002
Gene: ENSMUSG00000031734
AA Change: T358A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
123 |
N/A |
INTRINSIC |
|
HOX
|
131 |
195 |
3.47e-12 |
SMART |
|
coiled coil region
|
210 |
244 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
300 |
N/A |
INTRINSIC |
|
IRO
|
345 |
362 |
2.66e-6 |
SMART |
|
low complexity region
|
365 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
416 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
436 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133337
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133528
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175795
AA Change: T358A
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135488
Gene: ENSMUSG00000031734
AA Change: T358A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
123 |
N/A |
INTRINSIC |
|
HOX
|
131 |
195 |
3.47e-12 |
SMART |
|
coiled coil region
|
210 |
244 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
300 |
N/A |
INTRINSIC |
|
IRO
|
345 |
362 |
2.66e-6 |
SMART |
|
low complexity region
|
365 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
416 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
436 |
461 |
N/A |
INTRINSIC |
|
low complexity region
|
495 |
507 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IRX3 is a member of the Iroquois homeobox gene family (see IRX1; MIM 606197) and plays a role in an early step of neural development (Bellefroid et al., 1998 [PubMed 9427753]). Members of this family appear to play multiple roles during pattern formation of vertebrate embryos (Lewis et al., 1999 [PubMed 10370142]).[supplied by OMIM, Aug 2009]
PHENOTYPE: Mice homozygous for a null allele display right bundle branch block, decreased body weight, increased energy expenditure, reduced adiposity and decreased susceptibility to diet induced obesity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009J06Rik |
A |
T |
6: 40,943,713 (GRCm39) |
T126S |
probably benign |
Het |
| Bex6 |
A |
G |
16: 32,005,483 (GRCm39) |
K97R |
probably benign |
Het |
| Brca2 |
T |
C |
5: 150,459,658 (GRCm39) |
L311P |
probably damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cdc16 |
C |
A |
8: 13,831,512 (GRCm39) |
P582T |
probably benign |
Het |
| Cep112 |
T |
C |
11: 108,397,377 (GRCm39) |
I280T |
possibly damaging |
Het |
| Cfhr4 |
A |
G |
1: 139,660,128 (GRCm39) |
Y666H |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,143,313 (GRCm39) |
F527L |
probably damaging |
Het |
| Drc3 |
G |
T |
11: 60,255,773 (GRCm39) |
R120L |
probably damaging |
Het |
| Efcab6 |
T |
A |
15: 83,777,036 (GRCm39) |
R1133S |
possibly damaging |
Het |
| Fer1l5 |
T |
C |
1: 36,445,735 (GRCm39) |
V834A |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,915,318 (GRCm38) |
Y1483C |
probably damaging |
Het |
| Fstl4 |
A |
T |
11: 53,077,552 (GRCm39) |
M770L |
probably benign |
Het |
| Gm10428 |
A |
T |
11: 62,644,115 (GRCm39) |
|
probably benign |
Het |
| Hmbs |
C |
A |
9: 44,252,988 (GRCm39) |
R15L |
probably damaging |
Het |
| Kmt2a |
T |
A |
9: 44,760,569 (GRCm39) |
I460L |
probably damaging |
Het |
| Mob2 |
G |
T |
7: 141,563,293 (GRCm39) |
F55L |
probably damaging |
Het |
| Muc6 |
G |
C |
7: 141,226,700 (GRCm39) |
|
probably benign |
Het |
| Ntrk2 |
T |
C |
13: 59,202,228 (GRCm39) |
L612P |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,955,056 (GRCm39) |
|
probably null |
Het |
| Or4d5 |
T |
C |
9: 40,012,316 (GRCm39) |
I157V |
probably benign |
Het |
| Or5j1 |
A |
T |
2: 86,879,577 (GRCm39) |
M1K |
probably null |
Het |
| Or8b44 |
A |
T |
9: 38,410,534 (GRCm39) |
T190S |
probably damaging |
Het |
| Oxct2a |
T |
C |
4: 123,216,640 (GRCm39) |
E247G |
probably damaging |
Het |
| Phykpl |
G |
T |
11: 51,489,181 (GRCm39) |
A336S |
probably damaging |
Het |
| Pik3r4 |
T |
G |
9: 105,521,476 (GRCm39) |
L14R |
probably damaging |
Het |
| Pnpla1 |
A |
G |
17: 29,100,021 (GRCm39) |
N296S |
probably benign |
Het |
| Pramel7 |
A |
G |
2: 87,320,393 (GRCm39) |
I300T |
probably damaging |
Het |
| Rictor |
T |
G |
15: 6,780,140 (GRCm39) |
C132G |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Slc9a9 |
G |
T |
9: 94,821,531 (GRCm39) |
R306L |
probably benign |
Het |
| Smc5 |
A |
G |
19: 23,206,283 (GRCm39) |
V681A |
probably benign |
Het |
| Snap91 |
C |
T |
9: 86,672,180 (GRCm39) |
S646N |
probably benign |
Het |
| Ssh3 |
T |
C |
19: 4,314,450 (GRCm39) |
N368S |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 4,995,273 (GRCm39) |
N8326K |
probably benign |
Het |
| Traf3 |
T |
G |
12: 111,204,074 (GRCm39) |
L21R |
possibly damaging |
Het |
| Ubxn11 |
C |
A |
4: 133,850,910 (GRCm39) |
T254K |
probably damaging |
Het |
|
| Other mutations in Irx3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0058:Irx3
|
UTSW |
8 |
92,527,168 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0080:Irx3
|
UTSW |
8 |
92,526,954 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0402:Irx3
|
UTSW |
8 |
92,527,296 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0418:Irx3
|
UTSW |
8 |
92,526,708 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0609:Irx3
|
UTSW |
8 |
92,527,721 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0709:Irx3
|
UTSW |
8 |
92,526,048 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1753:Irx3
|
UTSW |
8 |
92,527,362 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3406:Irx3
|
UTSW |
8 |
92,525,555 (GRCm39) |
missense |
unknown |
|
|
R5472:Irx3
|
UTSW |
8 |
92,526,108 (GRCm39) |
splice site |
probably null |
|
|
R5790:Irx3
|
UTSW |
8 |
92,526,304 (GRCm39) |
missense |
probably benign |
|
|
R5896:Irx3
|
UTSW |
8 |
92,527,763 (GRCm39) |
missense |
probably benign |
|
|
R6776:Irx3
|
UTSW |
8 |
92,526,463 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6861:Irx3
|
UTSW |
8 |
92,525,530 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6978:Irx3
|
UTSW |
8 |
92,527,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7472:Irx3
|
UTSW |
8 |
92,526,625 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8304:Irx3
|
UTSW |
8 |
92,526,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8412:Irx3
|
UTSW |
8 |
92,527,028 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8906:Irx3
|
UTSW |
8 |
92,526,915 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9157:Irx3
|
UTSW |
8 |
92,527,694 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTCCAAGCGGGGAATTTG -3'
(R):5'- AAACTTAGACAGCGCGGCAG -3'
Sequencing Primer
(F):5'- GCGGGGAATTTGCCAAGC -3'
(R):5'- TTTCGGACTGCAAAACTAGCG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation