Incidental Mutation 'IGL01528:Igfbp7'
| ID |
89653 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Igfbp7
|
| Ensembl Gene |
ENSMUSG00000036256 |
| Gene Name |
insulin-like growth factor binding protein 7 |
| Synonyms |
AGM, Fstl2, mac25 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01528
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
77497092-77555892 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 77499179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 273
(D273A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128318
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031167]
[ENSMUST00000046746]
[ENSMUST00000163898]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031167
|
| SMART Domains |
Protein: ENSMUSP00000031167
Gene: ENSMUSG00000029250
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:RNA_pol_Rpb2_1
|
38 |
442 |
2.5e-69 |
PFAM |
|
Pfam:RNA_pol_Rpb2_2
|
201 |
394 |
3.7e-57 |
PFAM |
|
Pfam:RNA_pol_Rpb2_3
|
468 |
532 |
6.1e-25 |
PFAM |
|
Pfam:RNA_pol_Rpb2_4
|
567 |
629 |
7.4e-27 |
PFAM |
|
Pfam:RNA_pol_Rpb2_5
|
653 |
700 |
1.6e-22 |
PFAM |
|
Pfam:RNA_pol_Rpb2_6
|
707 |
1080 |
4.5e-129 |
PFAM |
|
Pfam:RNA_pol_Rpb2_7
|
1082 |
1174 |
3.3e-35 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046746
AA Change: D242A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045057
Gene: ENSMUSG00000036256
AA Change: D242A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
IB
|
30 |
113 |
9.23e-19 |
SMART |
|
KAZAL
|
110 |
156 |
6.39e-12 |
SMART |
|
IG
|
166 |
266 |
5.53e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163898
AA Change: D273A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128318
Gene: ENSMUSG00000036256
AA Change: D273A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
IB
|
30 |
113 |
9.23e-19 |
SMART |
|
KAZAL
|
110 |
156 |
6.39e-12 |
SMART |
|
IG
|
197 |
297 |
5.53e-6 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 insulin-like growth factor (IGF)-binding protein (IGFBP) family. IGFBPs bind IGFs with high affinity, and regulate IGF availability in body fluids and tissues and modulate IGF binding to its receptors. This protein binds IGF-I and IGF-II with relatively low affinity, and belongs to a subfamily of low-affinity IGFBPs. It also stimulates prostacyclin production and cell adhesion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and one variant has been associated with retinal arterial macroaneurysm (PMID:21835307). [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit retarded mammary gland developmental in virgin and adult females, reduced mammary gland size and alveolar density during pregnancy, precocious involution in lactating mammary glands, and abnormal milk composition. [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 |
|---|
| AB124611 |
T |
A |
9: 21,451,190 (GRCm39) |
|
probably benign |
Het |
| Cdc45 |
A |
G |
16: 18,630,311 (GRCm39) |
F2S |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,381,403 (GRCm39) |
R598G |
possibly damaging |
Het |
| Cemip2 |
T |
C |
19: 21,812,909 (GRCm39) |
V1038A |
possibly damaging |
Het |
| Dusp22 |
C |
T |
13: 30,889,611 (GRCm39) |
T64I |
probably benign |
Het |
| Gfer |
T |
A |
17: 24,914,903 (GRCm39) |
T47S |
probably benign |
Het |
| Gfra2 |
T |
C |
14: 71,203,738 (GRCm39) |
S296P |
possibly damaging |
Het |
| Gjb2 |
G |
A |
14: 57,338,125 (GRCm39) |
L28F |
probably damaging |
Het |
| Gm17782 |
A |
G |
17: 36,472,682 (GRCm39) |
|
probably benign |
Het |
| Gm2832 |
T |
C |
14: 41,003,670 (GRCm39) |
V167A |
unknown |
Het |
| Gpr155 |
A |
G |
2: 73,192,767 (GRCm39) |
|
probably null |
Het |
| Gpr45 |
A |
G |
1: 43,072,383 (GRCm39) |
H342R |
probably benign |
Het |
| Gsdmd |
A |
T |
15: 75,735,354 (GRCm39) |
T33S |
possibly damaging |
Het |
| Hal |
T |
A |
10: 93,333,455 (GRCm39) |
L341Q |
probably damaging |
Het |
| Kdm2a |
T |
C |
19: 4,393,083 (GRCm39) |
D424G |
probably benign |
Het |
| Kif13a |
C |
T |
13: 47,018,313 (GRCm39) |
|
probably benign |
Het |
| Krt35 |
A |
T |
11: 99,985,420 (GRCm39) |
L207Q |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,809,194 (GRCm39) |
D2572E |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,322,804 (GRCm39) |
V1848A |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,686,957 (GRCm39) |
Y21H |
probably damaging |
Het |
| Ncan |
G |
T |
8: 70,562,731 (GRCm39) |
A509E |
probably benign |
Het |
| Or2q1 |
T |
C |
6: 42,795,208 (GRCm39) |
S268P |
probably damaging |
Het |
| Pde11a |
G |
A |
2: 76,025,300 (GRCm39) |
|
probably benign |
Het |
| Phf19 |
G |
T |
2: 34,787,119 (GRCm39) |
D448E |
probably damaging |
Het |
| Ptprj |
A |
T |
2: 90,282,488 (GRCm39) |
V799D |
probably damaging |
Het |
| Rpgrip1 |
T |
A |
14: 52,349,634 (GRCm39) |
Y7* |
probably null |
Het |
| Sema3c |
A |
G |
5: 17,919,413 (GRCm39) |
H483R |
probably benign |
Het |
| Slc4a11 |
A |
G |
2: 130,527,328 (GRCm39) |
|
probably benign |
Het |
| St3gal1 |
C |
A |
15: 66,984,466 (GRCm39) |
R103L |
probably benign |
Het |
| Tet2 |
A |
T |
3: 133,186,059 (GRCm39) |
V1126E |
possibly damaging |
Het |
| Tmem117 |
A |
T |
15: 94,992,545 (GRCm39) |
I402L |
probably benign |
Het |
| Ttc28 |
T |
A |
5: 111,249,826 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,702,182 (GRCm39) |
|
probably benign |
Het |
| Vmn1r7 |
T |
A |
6: 57,001,532 (GRCm39) |
M243L |
probably benign |
Het |
| Wnt1 |
G |
T |
15: 98,689,714 (GRCm39) |
W167L |
probably damaging |
Het |
| Zfp553 |
G |
T |
7: 126,835,387 (GRCm39) |
S314I |
probably damaging |
Het |
| Zranb2 |
T |
C |
3: 157,250,602 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Igfbp7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01323:Igfbp7
|
APN |
5 |
77,499,884 (GRCm39) |
splice site |
probably benign |
|
|
IGL02964:Igfbp7
|
APN |
5 |
77,499,188 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL03223:Igfbp7
|
APN |
5 |
77,497,318 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0403:Igfbp7
|
UTSW |
5 |
77,503,438 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0639:Igfbp7
|
UTSW |
5 |
77,499,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4647:Igfbp7
|
UTSW |
5 |
77,499,143 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4688:Igfbp7
|
UTSW |
5 |
77,555,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4945:Igfbp7
|
UTSW |
5 |
77,499,104 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4970:Igfbp7
|
UTSW |
5 |
77,555,608 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7095:Igfbp7
|
UTSW |
5 |
77,549,337 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7332:Igfbp7
|
UTSW |
5 |
77,499,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7751:Igfbp7
|
UTSW |
5 |
77,499,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8243:Igfbp7
|
UTSW |
5 |
77,549,339 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9709:Igfbp7
|
UTSW |
5 |
77,549,384 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2013-12-03 |
Incidental Mutation