Incidental Mutation 'RF029:Gm572'
| ID |
604267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm572
|
| Ensembl Gene |
ENSMUSG00000070577 |
| Gene Name |
predicted gene 572 |
| Synonyms |
b2b1167Clo, LOC230909 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
RF029 (G1)
|
| Quality Score |
217.479 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
148727774-148756029 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
TGGGGGGGGGGGG to TGGGGG
at 148755850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105698]
|
| AlphaFold |
B1ARY8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000105698
|
| SMART Domains |
Protein: ENSMUSP00000101323
Gene: ENSMUSG00000070577
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:DUF4556
|
144 |
358 |
1.9e-117 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 98.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced allele show cardiovascular defects including double outlet right ventricle, dextrocardia and atrioventricular septal defects, heterotaxia with situs inversus totalis and right pulmonary isomerism, spleen hypoplasia, mid-line liver, and immotile respiratory cilia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
GGTGGCCAG |
GGTGGCCAGCAAAAACAGAAAGGAAAAAGTGGCCAG |
6: 131,529,858 (GRCm39) |
|
probably benign |
Het |
| Abca17 |
T |
TCCCTC |
17: 24,506,701 (GRCm39) |
|
probably benign |
Het |
| Amot |
GGAGCAGCAA |
G |
X: 144,233,984 (GRCm39) |
|
probably benign |
Het |
| C1s1 |
CCCATGGCTC |
CC |
6: 124,518,310 (GRCm39) |
|
probably null |
Het |
| Cacna1a |
CCA |
CCAACA |
8: 85,365,353 (GRCm39) |
|
probably benign |
Het |
| Ccdc170 |
ACC |
ACCGCC |
10: 4,511,026 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
CAGA |
CAGAGACACTGACCAGGGATGTGATAGA |
9: 86,922,483 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
CCAGGGA |
CCAGGGATGTGACAGACACACTGCACAGGGA |
9: 86,922,495 (GRCm39) |
|
probably benign |
Het |
| Defb22 |
GCGGCA |
GCGGCAGAGCTGGCCTTTGCGGCA |
2: 152,327,753 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
CGGAGCACAGTTCCTACCTCGTT |
CGGAGCACAGTTCCTACCTCGTTTTGGGGGAGGAGCACAGTTCCTACCTCGTT |
9: 20,821,419 (GRCm39) |
|
probably null |
Het |
| Eed |
C |
A |
7: 89,604,240 (GRCm39) |
A411S |
probably benign |
Het |
| Exd2 |
CCACAGC |
CC |
12: 80,522,720 (GRCm39) |
|
probably null |
Het |
| Fam171b |
GCAGC |
GCAGCATCAGC |
2: 83,643,236 (GRCm39) |
|
probably benign |
Het |
| Fbrsl1 |
GCGTGTGCTGGT |
GCGTGTGCTGGTTCGTGTGCTGGT |
5: 110,526,005 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA |
TAGATGTGAAACTCTTAGAGGTAAGA |
2: 82,824,352 (GRCm39) |
|
probably null |
Het |
| Gabre |
GGCTC |
GGCTCCTGCTC |
X: 71,313,665 (GRCm39) |
|
probably benign |
Het |
| Gm47955 |
G |
GTTGTGGCTT |
1: 82,938,248 (GRCm39) |
|
probably benign |
Het |
| Hic1 |
CGGGGGGGGGG |
CGGGGGGG |
11: 75,060,268 (GRCm39) |
|
probably benign |
Het |
| Ifi208 |
AGATG |
AG |
1: 173,505,262 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GTGG |
GTGGGGCTTGAACTGG |
3: 37,179,976 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
TG |
TGAGCACATGG |
6: 145,119,516 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CACAGCCACAGCCAC |
CACAGCCACAGCCACAACAGCCACAGCCAC |
1: 83,019,991 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
GCTCCAGCTCCAGCTCCAGCTCCA |
GCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA |
2: 181,339,372 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
CCAGCTCCAGCT |
CCAGCTCCAGCTACAGCTCCAGCT |
2: 181,339,381 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
TGAGGAGCAAGCTGAGA |
TGAGGAGCAAGCTGAGATACACGTTAGCTGGGAGGAGCAAGCTGAGA |
2: 119,458,075 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
CTGAGA |
CTGAGATACACGTTAGCAGTGAGGAGCAAGATGAGA |
2: 119,458,086 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Pnma8a |
CAACATC |
CAACATCTCATGATGCACCTGCTTAAACATC |
7: 16,695,369 (GRCm39) |
|
probably null |
Het |
| Polr1has |
CG |
CCACCACCACCACCCCCCCCAGG |
17: 37,275,963 (GRCm39) |
|
probably benign |
Het |
| Rasa2 |
CGC |
CGCAGC |
9: 96,513,520 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
TATTGCGGGACCAGGTATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
2: 155,938,015 (GRCm39) |
|
probably benign |
Het |
| Reep1 |
CGCCA |
CGCCAGCCA |
6: 71,684,950 (GRCm39) |
|
probably null |
Het |
| Tcof1 |
CAG |
CAGAAG |
18: 60,968,807 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
AGC |
AGCGGC |
18: 60,968,817 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
GCTGCTGCT |
GCTGCTGCTGCTGCTTCTGCTGCT |
15: 72,673,172 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
CAGCAACAG |
CAGCAACAGAAGCAACAG |
8: 109,682,724 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gm572 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00472:Gm572
|
APN |
4 |
148,751,849 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01766:Gm572
|
APN |
4 |
148,739,352 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02670:Gm572
|
APN |
4 |
148,735,685 (GRCm39) |
missense |
probably benign |
|
|
IGL02716:Gm572
|
APN |
4 |
148,739,327 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT1430001:Gm572
|
UTSW |
4 |
148,755,850 (GRCm39) |
missense |
unknown |
|
|
R1346:Gm572
|
UTSW |
4 |
148,739,354 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1546:Gm572
|
UTSW |
4 |
148,751,276 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1564:Gm572
|
UTSW |
4 |
148,735,643 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1672:Gm572
|
UTSW |
4 |
148,752,966 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2516:Gm572
|
UTSW |
4 |
148,748,841 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3852:Gm572
|
UTSW |
4 |
148,753,329 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4366:Gm572
|
UTSW |
4 |
148,739,322 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4884:Gm572
|
UTSW |
4 |
148,751,819 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4888:Gm572
|
UTSW |
4 |
148,751,302 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5026:Gm572
|
UTSW |
4 |
148,739,301 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5121:Gm572
|
UTSW |
4 |
148,751,302 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5797:Gm572
|
UTSW |
4 |
148,751,255 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5988:Gm572
|
UTSW |
4 |
148,752,964 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6827:Gm572
|
UTSW |
4 |
148,742,543 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7709:Gm572
|
UTSW |
4 |
148,753,408 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8298:Gm572
|
UTSW |
4 |
148,742,550 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8442:Gm572
|
UTSW |
4 |
148,743,450 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8906:Gm572
|
UTSW |
4 |
148,751,290 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9066:Gm572
|
UTSW |
4 |
148,751,278 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9262:Gm572
|
UTSW |
4 |
148,735,652 (GRCm39) |
missense |
probably benign |
|
|
R9435:Gm572
|
UTSW |
4 |
148,752,966 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9488:Gm572
|
UTSW |
4 |
148,752,913 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
RF030:Gm572
|
UTSW |
4 |
148,755,850 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCCCCAAACTCGGAATTAG -3'
(R):5'- GTGTAAATCTTCCCAGGGAGG -3'
Sequencing Primer
(F):5'- TCGGAATTAGAAACAAAGACAAAGCC -3'
(R):5'- CAAAGTCCATCTCACGCTT -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation