Incidental Mutation 'PIT4260001:Clgn'
| ID |
554503 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clgn
|
| Ensembl Gene |
ENSMUSG00000002190 |
| Gene Name |
calmegin |
| Synonyms |
calnexin-t, Cln, 4930459O04Rik, A2/6 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.369)
|
| Stock # |
PIT4260001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
84116496-84155181 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84149753 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 418
(M418T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002259]
[ENSMUST00000109831]
|
| AlphaFold |
P52194 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002259
AA Change: M418T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000002259
Gene: ENSMUSG00000002190
AA Change: M418T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Calreticulin
|
62 |
429 |
6.6e-160 |
PFAM |
|
transmembrane domain
|
471 |
493 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
533 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109831
AA Change: M418T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105457
Gene: ENSMUSG00000002190
AA Change: M418T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Calreticulin
|
60 |
429 |
1.9e-154 |
PFAM |
|
transmembrane domain
|
471 |
493 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
533 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 92.7%
- 3x: 90.5%
- 10x: 84.8%
- 20x: 72.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene belongs to the calreticulin family, which includes calreticulin, calnexin, and calmegin, and encodes a calcium-binding molecular chaperone specifically expressed in pachytene stage male germ cells. It is required for the proper folding of newly synthesized membrane proteins in the endoplasmic reticulum including those critical for sperm migration from the uterus into the oviduct and sperm adhesion to and penetration of the zona pellucida. This gene plays a key role in spermatogenesis and male infertility. Alternative splice variants exist for this gene. [provided by RefSeq, Jul 2016]
PHENOTYPE: Males homozygous for a targeted null mutation exhibit severely impaired fertility associated with an apparent defect in either sperm/zona pellucida binding and/or sperm transit to the oviduct. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap3 |
A |
T |
18: 38,129,948 (GRCm39) |
L71Q |
probably benign |
Het |
| Atp10a |
A |
T |
7: 58,440,866 (GRCm39) |
K504* |
probably null |
Het |
| AW551984 |
T |
C |
9: 39,504,275 (GRCm39) |
T564A |
probably benign |
Het |
| Cep128 |
A |
G |
12: 91,265,808 (GRCm39) |
V268A |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,558,662 (GRCm39) |
|
probably null |
Het |
| Col4a3 |
A |
T |
1: 82,660,482 (GRCm39) |
E933D |
unknown |
Het |
| Csmd1 |
A |
T |
8: 16,120,327 (GRCm39) |
L1826Q |
probably damaging |
Het |
| Enpp2 |
C |
T |
15: 54,707,774 (GRCm39) |
|
probably null |
Het |
| Ep400 |
G |
A |
5: 110,841,037 (GRCm39) |
R1832* |
probably null |
Het |
| Exoc5 |
T |
C |
14: 49,286,222 (GRCm39) |
K135R |
probably benign |
Het |
| Fam83h |
A |
G |
15: 75,873,746 (GRCm39) |
F1197S |
probably damaging |
Het |
| Gabrg1 |
T |
C |
5: 70,939,623 (GRCm39) |
I170V |
probably benign |
Het |
| Gigyf2 |
C |
T |
1: 87,346,828 (GRCm39) |
R610C |
unknown |
Het |
| Gm16440 |
T |
C |
14: 17,575,339 (GRCm39) |
E119G |
probably benign |
Het |
| Gm17669 |
A |
G |
18: 67,695,508 (GRCm39) |
R18G |
probably damaging |
Het |
| Gxylt1 |
A |
G |
15: 93,159,708 (GRCm39) |
S100P |
probably damaging |
Het |
| H3c10 |
C |
A |
13: 21,902,089 (GRCm39) |
S87R |
possibly damaging |
Het |
| Hacd4 |
C |
G |
4: 88,316,342 (GRCm39) |
R259T |
unknown |
Het |
| Hacd4 |
T |
A |
4: 88,316,343 (GRCm39) |
R259* |
probably null |
Het |
| Hivep3 |
T |
C |
4: 119,956,379 (GRCm39) |
L1565P |
probably damaging |
Het |
| Iqsec1 |
T |
A |
6: 90,667,471 (GRCm39) |
D218V |
probably damaging |
Het |
| Matn2 |
C |
T |
15: 34,428,877 (GRCm39) |
T747I |
possibly damaging |
Het |
| Myl6b |
T |
A |
10: 128,332,175 (GRCm39) |
Q97L |
possibly damaging |
Het |
| Or5d18 |
A |
T |
2: 87,865,126 (GRCm39) |
M119K |
probably damaging |
Het |
| Pcdh1 |
A |
G |
18: 38,336,419 (GRCm39) |
V72A |
probably damaging |
Het |
| Pira2 |
T |
C |
7: 3,845,173 (GRCm39) |
T362A |
probably benign |
Het |
| Pira2 |
C |
T |
7: 3,845,169 (GRCm39) |
S363N |
probably benign |
Het |
| Pira2 |
G |
C |
7: 3,845,172 (GRCm39) |
T362S |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,293,130 (GRCm39) |
V2830A |
possibly damaging |
Het |
| Plpp1 |
A |
G |
13: 112,993,419 (GRCm39) |
D118G |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,626,793 (GRCm39) |
S1514P |
possibly damaging |
Het |
| Pou3f2 |
G |
T |
4: 22,487,291 (GRCm39) |
Q281K |
possibly damaging |
Het |
| Prl7a2 |
A |
T |
13: 27,843,259 (GRCm39) |
Y181* |
probably null |
Het |
| Prpf4b |
T |
A |
13: 35,068,274 (GRCm39) |
S368T |
probably benign |
Het |
| Prss45 |
A |
G |
9: 110,667,513 (GRCm39) |
D53G |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,609,641 (GRCm39) |
H4395L |
possibly damaging |
Het |
| Spp2 |
G |
T |
1: 88,338,927 (GRCm39) |
A97S |
probably benign |
Het |
| Strn4 |
T |
C |
7: 16,556,434 (GRCm39) |
F99S |
probably damaging |
Het |
| Tcaf2 |
T |
A |
6: 42,619,739 (GRCm39) |
H96L |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 36,054,557 (GRCm39) |
D601G |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,803,166 (GRCm39) |
M870L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,773,569 (GRCm39) |
T2351A |
unknown |
Het |
| Xirp2 |
T |
A |
2: 67,341,941 (GRCm39) |
I1394K |
possibly damaging |
Het |
| Zfc3h1 |
G |
T |
10: 115,226,794 (GRCm39) |
D284Y |
probably damaging |
Het |
|
| Other mutations in Clgn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01729:Clgn
|
APN |
8 |
84,124,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02158:Clgn
|
APN |
8 |
84,149,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03077:Clgn
|
APN |
8 |
84,150,769 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0604:Clgn
|
UTSW |
8 |
84,150,823 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1728:Clgn
|
UTSW |
8 |
84,149,659 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1729:Clgn
|
UTSW |
8 |
84,149,659 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2059:Clgn
|
UTSW |
8 |
84,126,607 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2182:Clgn
|
UTSW |
8 |
84,137,039 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3821:Clgn
|
UTSW |
8 |
84,147,106 (GRCm39) |
missense |
probably null |
0.02 |
|
R4542:Clgn
|
UTSW |
8 |
84,146,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5097:Clgn
|
UTSW |
8 |
84,137,152 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5677:Clgn
|
UTSW |
8 |
84,136,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5752:Clgn
|
UTSW |
8 |
84,123,670 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5802:Clgn
|
UTSW |
8 |
84,152,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6584:Clgn
|
UTSW |
8 |
84,126,665 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7542:Clgn
|
UTSW |
8 |
84,122,174 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7563:Clgn
|
UTSW |
8 |
84,147,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7819:Clgn
|
UTSW |
8 |
84,134,829 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9081:Clgn
|
UTSW |
8 |
84,153,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9351:Clgn
|
UTSW |
8 |
84,153,218 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
RF022:Clgn
|
UTSW |
8 |
84,152,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Clgn
|
UTSW |
8 |
84,124,310 (GRCm39) |
missense |
probably benign |
0.28 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAAGGCTTCCTCTTCCGC -3'
(R):5'- CCTTGGCATTTAGTAGTTACTGC -3'
Sequencing Primer
(F):5'- CGCTCCTTTTTATTTGTGTAATGGC -3'
(R):5'- AGTAGTTACTGCATCGGTATCACC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation