Incidental Mutation 'RF029:C1s1'
| ID |
604270 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C1s1
|
| Ensembl Gene |
ENSMUSG00000038521 |
| Gene Name |
complement component 1, s subcomponent 1 |
| Synonyms |
C1s |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
RF029 (G1)
|
| Quality Score |
214.458 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
124530345-124542359 bp(-) (GRCm38) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
CCCATGGCTC to CC
at 124541351 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125531
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159463]
[ENSMUST00000160505]
[ENSMUST00000162443]
[ENSMUST00000162844]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000159463
|
| SMART Domains |
Protein: ENSMUSP00000125439
Gene: ENSMUSG00000038521
| Domain | Start | End | E-Value | Type |
|---|
|
CUB
|
15 |
136 |
1.08e-29 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000160505
|
| SMART Domains |
Protein: ENSMUSP00000125531
Gene: ENSMUSG00000038521
| Domain | Start | End | E-Value | Type |
|---|
|
CUB
|
15 |
136 |
1.08e-29 |
SMART |
|
EGF_CA
|
137 |
178 |
1.79e-7 |
SMART |
|
CUB
|
181 |
296 |
5.89e-31 |
SMART |
|
CCP
|
300 |
360 |
3.22e-5 |
SMART |
|
CCP
|
365 |
427 |
5.48e-8 |
SMART |
|
Tryp_SPc
|
443 |
681 |
1.88e-70 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162443
|
| SMART Domains |
Protein: ENSMUSP00000125712
Gene: ENSMUSG00000038521
| Domain | Start | End | E-Value | Type |
|---|
|
CUB
|
15 |
136 |
1.08e-29 |
SMART |
|
EGF_CA
|
137 |
178 |
1.79e-7 |
SMART |
|
CUB
|
181 |
296 |
5.89e-31 |
SMART |
|
CCP
|
300 |
360 |
3.22e-5 |
SMART |
|
CCP
|
365 |
427 |
5.48e-8 |
SMART |
|
Tryp_SPc
|
443 |
681 |
1.88e-70 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162844
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
GGTGGCCAG |
GGTGGCCAGCAAAAACAGAAAGGAAAAAGTGGCCAG |
6: 131,552,895 (GRCm38) |
|
probably benign |
Het |
| Abca17 |
T |
TCCCTC |
17: 24,287,727 (GRCm38) |
|
probably benign |
Het |
| Amot |
GGAGCAGCAA |
G |
X: 145,450,988 (GRCm38) |
|
probably benign |
Het |
| Cacna1a |
CCA |
CCAACA |
8: 84,638,724 (GRCm38) |
|
probably benign |
Het |
| Ccdc170 |
ACC |
ACCGCC |
10: 4,561,026 (GRCm38) |
|
probably benign |
Het |
| Cyb5r4 |
CAGA |
CAGAGACACTGACCAGGGATGTGATAGA |
9: 87,040,430 (GRCm38) |
|
probably benign |
Het |
| Cyb5r4 |
CCAGGGA |
CCAGGGATGTGACAGACACACTGCACAGGGA |
9: 87,040,442 (GRCm38) |
|
probably benign |
Het |
| Defb22 |
GCGGCA |
GCGGCAGAGCTGGCCTTTGCGGCA |
2: 152,485,833 (GRCm38) |
|
probably benign |
Het |
| Dnmt1 |
CGGAGCACAGTTCCTACCTCGTT |
CGGAGCACAGTTCCTACCTCGTTTTGGGGGAGGAGCACAGTTCCTACCTCGTT |
9: 20,910,123 (GRCm38) |
|
probably null |
Het |
| Eed |
C |
A |
7: 89,955,032 (GRCm38) |
A411S |
probably benign |
Het |
| Exd2 |
CCACAGC |
CC |
12: 80,475,946 (GRCm38) |
|
probably null |
Het |
| Fam171b |
GCAGC |
GCAGCATCAGC |
2: 83,812,892 (GRCm38) |
|
probably benign |
Het |
| Fbrsl1 |
GCGTGTGCTGGT |
GCGTGTGCTGGTTCGTGTGCTGGT |
5: 110,378,139 (GRCm38) |
|
probably benign |
Het |
| Fsip2 |
TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA |
TAGATGTGAAACTCTTAGAGGTAAGA |
2: 82,994,008 (GRCm38) |
|
probably null |
Het |
| Gabre |
GGCTC |
GGCTCCTGCTC |
X: 72,270,059 (GRCm38) |
|
probably benign |
Het |
| Gm47955 |
G |
GTTGTGGCTT |
1: 82,960,527 (GRCm38) |
|
probably benign |
Het |
| Gm572 |
TGGGGGGGGGGGG |
TGGGGG |
4: 148,671,393 (GRCm38) |
|
probably null |
Het |
| Hic1 |
CGGGGGGGGGG |
CGGGGGGG |
11: 75,169,442 (GRCm38) |
|
probably benign |
Het |
| Ifi208 |
AGATG |
AG |
1: 173,677,696 (GRCm38) |
|
probably benign |
Het |
| Il2 |
GTGG |
GTGGGGCTTGAACTGG |
3: 37,125,827 (GRCm38) |
|
probably benign |
Het |
| Krtap28-10 |
CACAGCCACAGCCAC |
CACAGCCACAGCCACAACAGCCACAGCCAC |
1: 83,042,270 (GRCm38) |
|
probably benign |
Het |
| Lkaaear1 |
GCTCCAGCTCCAGCTCCAGCTCCA |
GCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA |
2: 181,697,579 (GRCm38) |
|
probably benign |
Het |
| Lkaaear1 |
CCAGCTCCAGCT |
CCAGCTCCAGCTACAGCTCCAGCT |
2: 181,697,588 (GRCm38) |
|
probably benign |
Het |
| Lrmp |
TG |
TGAGCACATGG |
6: 145,173,790 (GRCm38) |
|
probably benign |
Het |
| Nusap1 |
TGAGGAGCAAGCTGAGA |
TGAGGAGCAAGCTGAGATACACGTTAGCTGGGAGGAGCAAGCTGAGA |
2: 119,627,594 (GRCm38) |
|
probably benign |
Het |
| Nusap1 |
CTGAGA |
CTGAGATACACGTTAGCAGTGAGGAGCAAGATGAGA |
2: 119,627,605 (GRCm38) |
|
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 109,624,195 (GRCm38) |
|
probably benign |
Het |
| Pnmal1 |
CAACATC |
CAACATCTCATGATGCACCTGCTTAAACATC |
7: 16,961,444 (GRCm38) |
|
probably null |
Het |
| Rasa2 |
CGC |
CGCAGC |
9: 96,631,467 (GRCm38) |
|
probably benign |
Het |
| Rbm12 |
TATTGCGGGACCAGGTATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
2: 156,096,095 (GRCm38) |
|
probably benign |
Het |
| Reep1 |
CGCCA |
CGCCAGCCA |
6: 71,707,966 (GRCm38) |
|
probably null |
Het |
| Tcof1 |
CAG |
CAGAAG |
18: 60,835,735 (GRCm38) |
|
probably benign |
Het |
| Tcof1 |
AGC |
AGCGGC |
18: 60,835,745 (GRCm38) |
|
probably benign |
Het |
| Trappc9 |
GCTGCTGCT |
GCTGCTGCTGCTGCTTCTGCTGCT |
15: 72,801,323 (GRCm38) |
|
probably benign |
Het |
| Zfhx3 |
CAGCAACAG |
CAGCAACAGAAGCAACAG |
8: 108,956,092 (GRCm38) |
|
probably benign |
Het |
| Znrd1as |
CG |
CCACCACCACCACCCCCCCCAGG |
17: 36,965,071 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in C1s1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02225:C1s1
|
APN |
6 |
124,541,334 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02590:C1s1
|
APN |
6 |
124,531,276 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL02968:C1s1
|
APN |
6 |
124,540,351 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03301:C1s1
|
APN |
6 |
124,541,324 (GRCm38) |
splice site |
probably benign |
|
|
BB008:C1s1
|
UTSW |
6 |
124,533,400 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB018:C1s1
|
UTSW |
6 |
124,533,400 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0105:C1s1
|
UTSW |
6 |
124,541,318 (GRCm38) |
splice site |
probably benign |
|
|
R0396:C1s1
|
UTSW |
6 |
124,533,354 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0759:C1s1
|
UTSW |
6 |
124,531,437 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1145:C1s1
|
UTSW |
6 |
124,540,800 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1145:C1s1
|
UTSW |
6 |
124,540,800 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1396:C1s1
|
UTSW |
6 |
124,531,051 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1466:C1s1
|
UTSW |
6 |
124,531,131 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1466:C1s1
|
UTSW |
6 |
124,531,131 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1627:C1s1
|
UTSW |
6 |
124,537,480 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1855:C1s1
|
UTSW |
6 |
124,534,356 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2010:C1s1
|
UTSW |
6 |
124,537,394 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2349:C1s1
|
UTSW |
6 |
124,541,473 (GRCm38) |
start gained |
probably benign |
|
|
R4544:C1s1
|
UTSW |
6 |
124,531,540 (GRCm38) |
missense |
probably benign |
0.31 |
|
R4661:C1s1
|
UTSW |
6 |
124,536,490 (GRCm38) |
missense |
probably benign |
0.22 |
|
R5383:C1s1
|
UTSW |
6 |
124,534,401 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5687:C1s1
|
UTSW |
6 |
124,540,950 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5846:C1s1
|
UTSW |
6 |
124,540,953 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6289:C1s1
|
UTSW |
6 |
124,531,176 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6410:C1s1
|
UTSW |
6 |
124,531,158 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6983:C1s1
|
UTSW |
6 |
124,540,896 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7931:C1s1
|
UTSW |
6 |
124,533,400 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8141:C1s1
|
UTSW |
6 |
124,531,362 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8341:C1s1
|
UTSW |
6 |
124,531,156 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8399:C1s1
|
UTSW |
6 |
124,535,293 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8926:C1s1
|
UTSW |
6 |
124,536,363 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8926:C1s1
|
UTSW |
6 |
124,533,366 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9008:C1s1
|
UTSW |
6 |
124,532,540 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9147:C1s1
|
UTSW |
6 |
124,540,799 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9148:C1s1
|
UTSW |
6 |
124,540,799 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9153:C1s1
|
UTSW |
6 |
124,540,947 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R9177:C1s1
|
UTSW |
6 |
124,531,403 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAAGGTTCATATCTGAGCTCTTTC -3'
(R):5'- GACCATTCCTGACAGGTACC -3'
Sequencing Primer
(F):5'- GGAAATCACATACAACAGGCCTGTG -3'
(R):5'- CCTGACAGGTACCTATTTCTATGG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation