Incidental Mutation 'R4117:Heph'
| ID |
315150 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Heph
|
| Ensembl Gene |
ENSMUSG00000031209 |
| Gene Name |
hephaestin |
| Synonyms |
sex linked anemia, sla, C130006F04Rik, Cpl |
| MMRRC Submission |
040991-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4117 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
X |
| Chromosomal Location |
95499042-95618091 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95544221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 615
(V615A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078301
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033553]
[ENSMUST00000079322]
[ENSMUST00000113838]
|
| AlphaFold |
Q9Z0Z4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033553
AA Change: V657A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000033553
Gene: ENSMUSG00000031209
AA Change: V657A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Cu-oxidase_3
|
95 |
209 |
6.1e-10 |
PFAM |
|
Blast:FA58C
|
252 |
372 |
4e-7 |
BLAST |
|
Pfam:Cu-oxidase_3
|
450 |
562 |
2e-8 |
PFAM |
|
Pfam:Cu-oxidase_3
|
806 |
905 |
1e-7 |
PFAM |
|
Pfam:Cu-oxidase_2
|
942 |
1065 |
7.5e-17 |
PFAM |
|
transmembrane domain
|
1109 |
1131 |
N/A |
INTRINSIC |
|
low complexity region
|
1134 |
1143 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079322
AA Change: V615A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000078301
Gene: ENSMUSG00000031209
AA Change: V615A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Cu-oxidase_3
|
95 |
209 |
2.6e-10 |
PFAM |
|
Blast:FA58C
|
252 |
372 |
3e-7 |
BLAST |
|
Pfam:Cu-oxidase_3
|
439 |
509 |
6.4e-7 |
PFAM |
|
internal_repeat_1
|
688 |
798 |
9.28e-22 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113838
AA Change: V657A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000109469
Gene: ENSMUSG00000031209
AA Change: V657A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Cu-oxidase_3
|
96 |
209 |
7.5e-10 |
PFAM |
|
Blast:FA58C
|
252 |
372 |
4e-7 |
BLAST |
|
Pfam:Cu-oxidase_3
|
439 |
562 |
1.8e-8 |
PFAM |
|
Pfam:Cu-oxidase_3
|
806 |
905 |
8.2e-8 |
PFAM |
|
Pfam:Cu-oxidase_2
|
941 |
1065 |
6.3e-16 |
PFAM |
|
transmembrane domain
|
1109 |
1131 |
N/A |
INTRINSIC |
|
low complexity region
|
1134 |
1143 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3100 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
97% (31/32) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the multicopper oxidase protein family. The encoded protein is involved in the transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system, and may be involved in copper transport and homeostasis. In mouse, defects in this gene can lead to severe microcytic anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Hemizygous male and homozygous female mutants are small and pale at birth, exhibit a hypochromic anemia which tends to disappear with age. Mutants have impaired iron transport in the placenta and in the gut. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
T |
C |
2: 155,398,313 (GRCm39) |
F358L |
probably damaging |
Het |
| Adamts16 |
A |
G |
13: 70,916,111 (GRCm39) |
Y775H |
probably benign |
Het |
| Bard1 |
A |
T |
1: 71,085,922 (GRCm39) |
H594Q |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cenpt |
G |
A |
8: 106,576,332 (GRCm39) |
S73L |
probably benign |
Het |
| Ctdnep1 |
C |
A |
11: 69,879,497 (GRCm39) |
A7D |
probably damaging |
Het |
| Fam210b |
T |
C |
2: 172,193,486 (GRCm39) |
S100P |
probably benign |
Het |
| Fyb1 |
A |
C |
15: 6,659,597 (GRCm39) |
D434A |
probably damaging |
Het |
| H2-T15 |
T |
C |
17: 36,368,496 (GRCm39) |
D144G |
probably damaging |
Het |
| Icam5 |
T |
A |
9: 20,948,886 (GRCm39) |
V746E |
probably damaging |
Het |
| Maml2 |
A |
G |
9: 13,617,230 (GRCm39) |
Q192R |
probably damaging |
Het |
| Npas4 |
T |
C |
19: 5,037,391 (GRCm39) |
Y301C |
probably damaging |
Het |
| Nup205 |
C |
T |
6: 35,217,947 (GRCm39) |
Q1767* |
probably null |
Het |
| Or51f5 |
T |
A |
7: 102,423,684 (GRCm39) |
|
probably null |
Het |
| Pigg |
A |
G |
5: 108,495,908 (GRCm39) |
R982G |
probably benign |
Het |
| Plekhg2 |
A |
T |
7: 28,060,313 (GRCm39) |
H1005Q |
probably benign |
Het |
| Rdh12 |
C |
T |
12: 79,260,419 (GRCm39) |
R172C |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Semp2l2b |
T |
A |
10: 21,943,615 (GRCm39) |
N122Y |
probably benign |
Het |
| Septin4 |
T |
C |
11: 87,459,108 (GRCm39) |
F494S |
probably damaging |
Het |
| Serpinb9 |
T |
A |
13: 33,199,579 (GRCm39) |
D291E |
probably benign |
Het |
| She |
A |
T |
3: 89,759,679 (GRCm39) |
Y394F |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,195,249 (GRCm39) |
S830G |
probably damaging |
Het |
| Stmn4 |
T |
C |
14: 66,598,581 (GRCm39) |
*217Q |
probably null |
Het |
| Stx17 |
A |
G |
4: 48,180,689 (GRCm39) |
D178G |
probably damaging |
Het |
| Tbc1d9 |
T |
G |
8: 83,992,776 (GRCm39) |
I960S |
possibly damaging |
Het |
| Ubxn10 |
G |
T |
4: 138,448,276 (GRCm39) |
D133E |
probably benign |
Het |
| Vmn2r42 |
T |
C |
7: 8,197,839 (GRCm39) |
Y260C |
probably damaging |
Het |
| Vmn2r7 |
A |
C |
3: 64,623,138 (GRCm39) |
|
probably benign |
Het |
| Zfp143 |
C |
T |
7: 109,691,120 (GRCm39) |
T557I |
probably damaging |
Het |
| Zfp607b |
A |
G |
7: 27,398,107 (GRCm39) |
I64V |
probably damaging |
Het |
|
| Other mutations in Heph |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00486:Heph
|
APN |
X |
95,571,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01515:Heph
|
APN |
X |
95,601,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02437:Heph
|
APN |
X |
95,516,633 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03065:Heph
|
APN |
X |
95,571,173 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0555:Heph
|
UTSW |
X |
95,601,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1864:Heph
|
UTSW |
X |
95,573,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1871:Heph
|
UTSW |
X |
95,542,690 (GRCm39) |
missense |
probably benign |
0.32 |
|
Z1088:Heph
|
UTSW |
X |
95,509,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Heph
|
UTSW |
X |
95,598,528 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGCTGATATGCTGCTGAC -3'
(R):5'- TCAAAACCCTGAGCACACTTCTTTC -3'
Sequencing Primer
(F):5'- GCTGCTGACTATGATTTGAGTAGTC -3'
(R):5'- GAGCACACTTCTTTCTTTTCACCAG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation