Incidental Mutation 'R4066:Spic'
ID |
316120 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spic
|
Ensembl Gene |
ENSMUSG00000004359 |
Gene Name |
Spi-C transcription factor (Spi-1/PU.1 related) |
Synonyms |
Spi-C, C76795, Prf |
MMRRC Submission |
040973-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.587)
|
Stock # |
R4066 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
88511131-88518885 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 88511545 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 237
(H237R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000004473
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004473]
[ENSMUST00000133724]
[ENSMUST00000138734]
|
AlphaFold |
Q6P3D7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004473
AA Change: H237R
PolyPhen 2
Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000004473 Gene: ENSMUSG00000004359 AA Change: H237R
Domain | Start | End | E-Value | Type |
ETS
|
111 |
199 |
6.67e-32 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133724
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138734
|
SMART Domains |
Protein: ENSMUSP00000118799 Gene: ENSMUSG00000004359
Domain | Start | End | E-Value | Type |
ETS
|
111 |
167 |
1.14e-5 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144338
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219708
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220161
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
96% (50/52) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene regulates the development of red pulp macrophages, which are necessary for iron homeostasis and the recycling of red blood cells. [provided by RefSeq, Aug 2016] PHENOTYPE: Homozygote null mice have prenatal lethality with incomplete penetrance, absent red pulp macrophages, decreased phagocytosis of senescent red blood cell, and enlargement of spleens with age due to an increase in splenic iron levels. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam23 |
A |
T |
1: 63,602,584 (GRCm39) |
H582L |
probably damaging |
Het |
Ankrd13d |
C |
T |
19: 4,320,388 (GRCm39) |
A118T |
probably benign |
Het |
Arhgap30 |
C |
T |
1: 171,235,891 (GRCm39) |
T755I |
probably benign |
Het |
Cab39l |
A |
G |
14: 59,784,454 (GRCm39) |
H285R |
probably benign |
Het |
Dpyd |
AAT |
AATGTATATATAT |
3: 118,690,738 (GRCm39) |
|
probably benign |
Het |
Dspp |
T |
A |
5: 104,325,060 (GRCm39) |
N474K |
unknown |
Het |
Fanci |
T |
C |
7: 79,062,505 (GRCm39) |
|
probably null |
Het |
Fras1 |
T |
A |
5: 96,918,542 (GRCm39) |
I3526K |
possibly damaging |
Het |
Fut8 |
T |
A |
12: 77,510,835 (GRCm39) |
Y421N |
probably damaging |
Het |
Gm12258 |
C |
T |
11: 58,749,352 (GRCm39) |
L176F |
probably benign |
Het |
Gm8220 |
A |
T |
14: 44,523,095 (GRCm39) |
R12* |
probably null |
Het |
Hecw1 |
T |
C |
13: 14,491,016 (GRCm39) |
S659G |
probably damaging |
Het |
Hnrnpr |
C |
A |
4: 136,066,657 (GRCm39) |
|
probably benign |
Het |
Htt |
C |
T |
5: 35,036,191 (GRCm39) |
T2046I |
probably benign |
Het |
Kat7 |
T |
C |
11: 95,174,967 (GRCm39) |
D259G |
possibly damaging |
Het |
Klra9 |
T |
C |
6: 130,165,707 (GRCm39) |
T103A |
probably benign |
Het |
Lad1 |
A |
G |
1: 135,755,165 (GRCm39) |
E147G |
probably damaging |
Het |
Lipo2 |
T |
C |
19: 33,698,259 (GRCm39) |
I373V |
probably benign |
Het |
Ltb4r1 |
G |
T |
14: 56,004,952 (GRCm39) |
W85L |
probably damaging |
Het |
Ltn1 |
T |
C |
16: 87,213,118 (GRCm39) |
Y481C |
possibly damaging |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Muc4 |
A |
T |
16: 32,569,869 (GRCm39) |
I310F |
possibly damaging |
Het |
Myl10 |
A |
G |
5: 136,724,304 (GRCm39) |
K70E |
probably damaging |
Het |
Nptx2 |
G |
T |
5: 144,493,122 (GRCm39) |
W403L |
probably damaging |
Het |
Nyap2 |
A |
G |
1: 81,219,550 (GRCm39) |
Y524C |
probably damaging |
Het |
Or4a72 |
T |
A |
2: 89,405,523 (GRCm39) |
L182F |
probably damaging |
Het |
Or6b2b |
A |
G |
1: 92,418,911 (GRCm39) |
C189R |
probably damaging |
Het |
Or8b1 |
T |
A |
9: 38,399,778 (GRCm39) |
M151K |
probably benign |
Het |
Pde9a |
A |
G |
17: 31,662,812 (GRCm39) |
*64W |
probably null |
Het |
Ppp2r5b |
T |
C |
19: 6,279,360 (GRCm39) |
Y379C |
probably damaging |
Het |
Rd3l |
T |
G |
12: 111,945,945 (GRCm39) |
N178T |
probably benign |
Het |
Recql4 |
A |
G |
15: 76,590,027 (GRCm39) |
Y673H |
probably damaging |
Het |
Rnps1-ps |
T |
A |
6: 7,983,009 (GRCm39) |
|
noncoding transcript |
Het |
Shcbp1 |
A |
G |
8: 4,798,716 (GRCm39) |
I401T |
probably damaging |
Het |
Shd |
A |
T |
17: 56,278,581 (GRCm39) |
D48V |
probably damaging |
Het |
Slc14a1 |
A |
G |
18: 78,154,592 (GRCm39) |
W209R |
probably damaging |
Het |
Slc2a9 |
T |
C |
5: 38,640,692 (GRCm39) |
K6E |
probably benign |
Het |
Slco6d1 |
A |
G |
1: 98,391,571 (GRCm39) |
|
probably benign |
Het |
Stau2 |
A |
G |
1: 16,464,283 (GRCm39) |
S156P |
possibly damaging |
Het |
Stmn2 |
T |
C |
3: 8,574,668 (GRCm39) |
|
probably benign |
Het |
Togaram2 |
C |
A |
17: 72,023,233 (GRCm39) |
|
probably benign |
Het |
Trpc5 |
T |
A |
X: 143,202,594 (GRCm39) |
R545* |
probably null |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Wdfy3 |
C |
T |
5: 102,070,313 (GRCm39) |
V1152I |
probably benign |
Het |
Xpo4 |
G |
T |
14: 57,825,511 (GRCm39) |
H939N |
probably benign |
Het |
|
Other mutations in Spic |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00815:Spic
|
APN |
10 |
88,511,729 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01503:Spic
|
APN |
10 |
88,511,623 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01611:Spic
|
APN |
10 |
88,511,864 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL01792:Spic
|
APN |
10 |
88,515,807 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0047:Spic
|
UTSW |
10 |
88,511,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R0047:Spic
|
UTSW |
10 |
88,511,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R0126:Spic
|
UTSW |
10 |
88,511,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R0166:Spic
|
UTSW |
10 |
88,511,579 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0585:Spic
|
UTSW |
10 |
88,511,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R4067:Spic
|
UTSW |
10 |
88,511,545 (GRCm39) |
missense |
possibly damaging |
0.63 |
R4436:Spic
|
UTSW |
10 |
88,512,817 (GRCm39) |
missense |
probably benign |
0.03 |
R4748:Spic
|
UTSW |
10 |
88,511,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R5001:Spic
|
UTSW |
10 |
88,511,761 (GRCm39) |
missense |
possibly damaging |
0.61 |
R8165:Spic
|
UTSW |
10 |
88,513,428 (GRCm39) |
missense |
probably damaging |
0.98 |
R8247:Spic
|
UTSW |
10 |
88,511,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R8411:Spic
|
UTSW |
10 |
88,514,498 (GRCm39) |
missense |
possibly damaging |
0.74 |
R8681:Spic
|
UTSW |
10 |
88,511,847 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9700:Spic
|
UTSW |
10 |
88,515,757 (GRCm39) |
missense |
probably benign |
0.14 |
R9777:Spic
|
UTSW |
10 |
88,514,421 (GRCm39) |
missense |
possibly damaging |
0.59 |
W0251:Spic
|
UTSW |
10 |
88,515,766 (GRCm39) |
missense |
probably damaging |
0.97 |
X0018:Spic
|
UTSW |
10 |
88,514,427 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCAATATGTAAACACTGCCTGG -3'
(R):5'- CAGAGCCCTGAGGAATTATGCC -3'
Sequencing Primer
(F):5'- GTAAACACTGCCTGGAAGGTTCTC -3'
(R):5'- CCCTGAGGAATTATGCCAGAACTG -3'
|
Posted On |
2015-05-15 |