Incidental Mutation 'IGL01115:Speer2'
ID |
52939 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Speer2
|
Ensembl Gene |
ENSMUSG00000063163 |
Gene Name |
spermatogenesis associated glutamate (E)-rich protein 2 |
Synonyms |
SPEER-2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
IGL01115
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
69653762-69660617 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 69658539 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 42
(W42*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075821
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076500]
[ENSMUST00000164146]
[ENSMUST00000166256]
|
AlphaFold |
E9Q9U2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000076500
AA Change: W42*
|
SMART Domains |
Protein: ENSMUSP00000075821 Gene: ENSMUSG00000063163 AA Change: W42*
Domain | Start | End | E-Value | Type |
Pfam:Takusan
|
51 |
137 |
6.3e-28 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164146
|
SMART Domains |
Protein: ENSMUSP00000126059 Gene: ENSMUSG00000063163
Domain | Start | End | E-Value | Type |
Pfam:Takusan
|
33 |
121 |
1.9e-33 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166256
|
SMART Domains |
Protein: ENSMUSP00000130270 Gene: ENSMUSG00000063163
Domain | Start | End | E-Value | Type |
Pfam:Takusan
|
1 |
49 |
2.3e-14 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
T |
C |
17: 46,621,352 (GRCm39) |
T934A |
probably benign |
Het |
Ankzf1 |
T |
C |
1: 75,169,259 (GRCm39) |
L55P |
probably damaging |
Het |
Aoc1 |
T |
C |
6: 48,883,131 (GRCm39) |
S336P |
probably damaging |
Het |
Bmper |
T |
C |
9: 23,310,985 (GRCm39) |
|
probably benign |
Het |
Capza2 |
A |
G |
6: 17,654,122 (GRCm39) |
N58S |
probably damaging |
Het |
Cdca2 |
A |
G |
14: 67,952,146 (GRCm39) |
V75A |
probably damaging |
Het |
Chmp7 |
A |
G |
14: 69,958,772 (GRCm39) |
S181P |
probably damaging |
Het |
Colq |
A |
G |
14: 31,267,085 (GRCm39) |
|
probably benign |
Het |
Dennd5b |
A |
G |
6: 148,911,246 (GRCm39) |
|
probably benign |
Het |
Has3 |
A |
G |
8: 107,605,320 (GRCm39) |
T509A |
probably benign |
Het |
Hsh2d |
T |
C |
8: 72,954,463 (GRCm39) |
S282P |
probably damaging |
Het |
Impg2 |
C |
T |
16: 56,079,803 (GRCm39) |
P536S |
possibly damaging |
Het |
Naip1 |
T |
A |
13: 100,580,228 (GRCm39) |
|
probably null |
Het |
Napb |
T |
C |
2: 148,549,089 (GRCm39) |
Y111C |
probably damaging |
Het |
Or8w1 |
T |
C |
2: 87,465,728 (GRCm39) |
D121G |
probably damaging |
Het |
Osmr |
A |
G |
15: 6,876,682 (GRCm39) |
|
probably benign |
Het |
Pcdh10 |
A |
G |
3: 45,347,210 (GRCm39) |
T1002A |
probably damaging |
Het |
Plcg2 |
T |
C |
8: 118,284,068 (GRCm39) |
W122R |
probably damaging |
Het |
Prpf19 |
C |
T |
19: 10,877,567 (GRCm39) |
T204M |
probably damaging |
Het |
Ptbp1 |
T |
A |
10: 79,695,796 (GRCm39) |
|
probably benign |
Het |
Ptpre |
T |
A |
7: 135,272,493 (GRCm39) |
D402E |
probably damaging |
Het |
Siglec1 |
T |
C |
2: 130,916,422 (GRCm39) |
N1176S |
probably benign |
Het |
Son |
A |
G |
16: 91,456,346 (GRCm39) |
T1698A |
probably benign |
Het |
Spata6l |
T |
C |
19: 28,921,842 (GRCm39) |
|
probably null |
Het |
Taf5 |
T |
C |
19: 47,063,521 (GRCm39) |
V357A |
probably benign |
Het |
Tctn1 |
A |
G |
5: 122,402,270 (GRCm39) |
S55P |
probably benign |
Het |
Tmem115 |
T |
A |
9: 107,411,781 (GRCm39) |
L35Q |
probably damaging |
Het |
Tmem30c |
T |
A |
16: 57,096,480 (GRCm39) |
|
probably benign |
Het |
Tmprss7 |
T |
C |
16: 45,481,152 (GRCm39) |
D678G |
probably damaging |
Het |
Ugt1a7c |
A |
T |
1: 88,022,967 (GRCm39) |
Q42L |
probably damaging |
Het |
Unc13b |
T |
A |
4: 43,258,492 (GRCm39) |
V4099E |
probably damaging |
Het |
Usp36 |
G |
A |
11: 118,176,786 (GRCm39) |
L11F |
probably damaging |
Het |
Zfp955a |
T |
A |
17: 33,461,554 (GRCm39) |
K193* |
probably null |
Het |
Zranb2 |
T |
C |
3: 157,252,328 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Speer2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00693:Speer2
|
APN |
16 |
69,657,406 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01694:Speer2
|
APN |
16 |
69,655,001 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01694:Speer2
|
APN |
16 |
69,655,000 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02738:Speer2
|
APN |
16 |
69,658,600 (GRCm39) |
missense |
probably benign |
|
IGL03024:Speer2
|
APN |
16 |
69,655,003 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03062:Speer2
|
APN |
16 |
69,654,865 (GRCm39) |
missense |
probably damaging |
0.96 |
R0054:Speer2
|
UTSW |
16 |
69,655,640 (GRCm39) |
missense |
probably damaging |
0.99 |
R1248:Speer2
|
UTSW |
16 |
69,653,955 (GRCm39) |
splice site |
probably null |
|
R1952:Speer2
|
UTSW |
16 |
69,654,052 (GRCm39) |
missense |
probably damaging |
0.96 |
R1993:Speer2
|
UTSW |
16 |
69,654,965 (GRCm39) |
missense |
probably benign |
0.01 |
R1995:Speer2
|
UTSW |
16 |
69,654,965 (GRCm39) |
missense |
probably benign |
0.01 |
R2063:Speer2
|
UTSW |
16 |
69,657,385 (GRCm39) |
missense |
probably benign |
0.02 |
R2155:Speer2
|
UTSW |
16 |
69,657,485 (GRCm39) |
missense |
possibly damaging |
0.63 |
R2216:Speer2
|
UTSW |
16 |
69,655,730 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4547:Speer2
|
UTSW |
16 |
69,655,737 (GRCm39) |
missense |
probably damaging |
0.98 |
R4548:Speer2
|
UTSW |
16 |
69,655,737 (GRCm39) |
missense |
probably damaging |
0.98 |
R4625:Speer2
|
UTSW |
16 |
69,655,642 (GRCm39) |
nonsense |
probably null |
|
R4692:Speer2
|
UTSW |
16 |
69,654,860 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4841:Speer2
|
UTSW |
16 |
69,654,988 (GRCm39) |
missense |
probably benign |
0.26 |
R4842:Speer2
|
UTSW |
16 |
69,654,988 (GRCm39) |
missense |
probably benign |
0.26 |
R5035:Speer2
|
UTSW |
16 |
69,654,829 (GRCm39) |
critical splice donor site |
probably null |
|
R5133:Speer2
|
UTSW |
16 |
69,655,708 (GRCm39) |
missense |
probably null |
0.06 |
R5812:Speer2
|
UTSW |
16 |
69,655,783 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6348:Speer2
|
UTSW |
16 |
69,654,895 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6854:Speer2
|
UTSW |
16 |
69,655,775 (GRCm39) |
missense |
probably damaging |
0.96 |
R7446:Speer2
|
UTSW |
16 |
69,654,965 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8068:Speer2
|
UTSW |
16 |
69,657,412 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Posted On |
2013-06-21 |