Incidental Mutation 'R5472:Fancl'
| ID |
433879 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fancl
|
| Ensembl Gene |
ENSMUSG00000004018 |
| Gene Name |
Fanconi anemia, complementation group L |
| Synonyms |
gcd, 2010322C19Rik, Pog, B230118H11Rik, Phf9 |
| MMRRC Submission |
043033-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
R5472 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
26337084-26421883 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 26419677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 305
(C305F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004120]
[ENSMUST00000078362]
[ENSMUST00000109504]
[ENSMUST00000109509]
|
| AlphaFold |
Q9CR14 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004120
AA Change: C310F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000004120
Gene: ENSMUSG00000004018
AA Change: C310F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WD-3
|
11 |
295 |
1.1e-106 |
PFAM |
|
FANCL_C
|
303 |
371 |
7.55e-44 |
SMART |
|
RING
|
307 |
362 |
2.77e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078362
|
| SMART Domains |
Protein: ENSMUSP00000077471
Gene: ENSMUSG00000064090
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
29 |
298 |
4.4e-18 |
PFAM |
|
Pfam:Pkinase_Tyr
|
29 |
313 |
2e-11 |
PFAM |
|
low complexity region
|
365 |
376 |
N/A |
INTRINSIC |
|
transmembrane domain
|
480 |
502 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109504
|
| SMART Domains |
Protein: ENSMUSP00000105130
Gene: ENSMUSG00000064090
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
29 |
302 |
2.8e-22 |
PFAM |
|
Pfam:Pkinase_Tyr
|
29 |
313 |
1.3e-11 |
PFAM |
|
low complexity region
|
365 |
376 |
N/A |
INTRINSIC |
|
transmembrane domain
|
480 |
502 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109509
AA Change: C305F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105135
Gene: ENSMUSG00000004018
AA Change: C305F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WD-3
|
8 |
290 |
2.4e-116 |
PFAM |
|
FANCL_C
|
298 |
366 |
7.55e-44 |
SMART |
|
RING
|
302 |
357 |
2.77e-1 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000134445
AA Change: C79F
|
| SMART Domains |
Protein: ENSMUSP00000119873
Gene: ENSMUSG00000004018
AA Change: C79F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WD-3
|
1 |
65 |
2.2e-24 |
PFAM |
|
Pfam:FANCL_C
|
73 |
127 |
4.2e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143471
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes the complementation group L subunit of the multimeric Fanconi anemia (FA) nuclear complex composed of proteins encoded by over ten Fanconi anemia complementation (FANC) group genes. The FA complex is necessary for protection against DNA damage. This gene product, an E3 ubiquitin ligase, catalyzes and is required for the monoubiquitination of the protein encoded by the Fanconi anemia, complementation group D2 gene, a critical step in the FA pathway (PMID: 12973351, 21229326). In mouse, mutations of this E3 ubiquitin ligase gene can lead to infertility in adult males and females, and a deletion of this gene can cause embryonic lethality in some genetic backgrounds. A pseudogene of this gene has been identified on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygosity for mutations that inactivate the allele results in male and female infertility due to a defects in primordial germ cell proliferation. Homozygosity is embryonic lethal on some backgrounds. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ajm1 |
T |
C |
2: 25,469,714 (GRCm39) |
T66A |
probably benign |
Het |
| Akap11 |
T |
C |
14: 78,750,869 (GRCm39) |
N506S |
probably benign |
Het |
| Brinp3 |
A |
T |
1: 146,777,197 (GRCm39) |
H548L |
possibly damaging |
Het |
| Cacna1c |
A |
G |
6: 118,615,407 (GRCm39) |
V1328A |
possibly damaging |
Het |
| Carmil1 |
C |
T |
13: 24,339,454 (GRCm39) |
V47I |
probably damaging |
Het |
| Cdk2ap2 |
C |
A |
19: 4,148,048 (GRCm39) |
T76K |
probably benign |
Het |
| Col16a1 |
T |
C |
4: 129,986,564 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,455,703 (GRCm39) |
D583G |
probably benign |
Het |
| Cxcr4 |
C |
A |
1: 128,517,362 (GRCm39) |
A100S |
probably damaging |
Het |
| Gcnt2 |
T |
C |
13: 41,107,055 (GRCm39) |
V308A |
probably benign |
Het |
| Gm11733 |
A |
T |
11: 117,375,322 (GRCm39) |
I24L |
unknown |
Het |
| Gm973 |
A |
G |
1: 59,667,446 (GRCm39) |
|
probably null |
Het |
| Heatr5b |
A |
T |
17: 79,109,089 (GRCm39) |
F1057I |
probably damaging |
Het |
| Ifi213 |
A |
T |
1: 173,394,838 (GRCm39) |
|
probably null |
Het |
| Ighv1-20 |
A |
T |
12: 114,687,471 (GRCm39) |
V91E |
probably damaging |
Het |
| Inhba |
A |
G |
13: 16,201,371 (GRCm39) |
E311G |
probably damaging |
Het |
| Irx3 |
G |
T |
8: 92,526,108 (GRCm39) |
|
probably null |
Het |
| Jag1 |
C |
A |
2: 136,926,915 (GRCm39) |
C948F |
probably damaging |
Het |
| Kcna2 |
T |
C |
3: 107,012,625 (GRCm39) |
I402T |
possibly damaging |
Het |
| Kcnh8 |
A |
T |
17: 53,284,844 (GRCm39) |
Q938L |
possibly damaging |
Het |
| Lrsam1 |
ACC |
AC |
2: 32,835,870 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,343,854 (GRCm39) |
T2123A |
probably benign |
Het |
| Mdfic2 |
A |
T |
6: 98,215,237 (GRCm39) |
C129S |
probably damaging |
Het |
| Mdh1 |
A |
T |
11: 21,509,786 (GRCm39) |
N196K |
probably benign |
Het |
| Msh6 |
G |
A |
17: 88,291,989 (GRCm39) |
R248Q |
possibly damaging |
Het |
| Odf2l |
G |
T |
3: 144,852,627 (GRCm39) |
R457L |
probably benign |
Het |
| Or6c69c |
A |
T |
10: 129,910,898 (GRCm39) |
L206F |
probably damaging |
Het |
| Pphln1 |
T |
C |
15: 93,386,856 (GRCm39) |
V318A |
possibly damaging |
Het |
| Ppp1r12a |
C |
T |
10: 108,075,973 (GRCm39) |
T267I |
probably damaging |
Het |
| Pramel15 |
T |
C |
4: 144,103,727 (GRCm39) |
D133G |
probably benign |
Het |
| Prpf8 |
A |
C |
11: 75,394,469 (GRCm39) |
K1801N |
possibly damaging |
Het |
| Raf1 |
A |
G |
6: 115,603,667 (GRCm39) |
|
probably null |
Het |
| Rasal3 |
C |
A |
17: 32,615,643 (GRCm39) |
L374F |
probably damaging |
Het |
| S1pr3 |
T |
A |
13: 51,573,683 (GRCm39) |
V288D |
probably damaging |
Het |
| Setd7 |
G |
A |
3: 51,428,886 (GRCm39) |
P315S |
probably benign |
Het |
| Slx4 |
C |
T |
16: 3,809,404 (GRCm39) |
A364T |
probably benign |
Het |
| Sp7 |
G |
A |
15: 102,267,749 (GRCm39) |
T19I |
probably benign |
Het |
| Tlr9 |
T |
A |
9: 106,101,512 (GRCm39) |
C268S |
probably damaging |
Het |
| Tmem117 |
T |
A |
15: 94,992,394 (GRCm39) |
D351E |
possibly damaging |
Het |
| Tmem45b |
T |
A |
9: 31,339,340 (GRCm39) |
D211V |
possibly damaging |
Het |
| Tns3 |
A |
G |
11: 8,401,092 (GRCm39) |
S1069P |
probably benign |
Het |
| Tsnax |
A |
G |
8: 125,742,501 (GRCm39) |
I77V |
probably benign |
Het |
| Txndc5 |
G |
A |
13: 38,697,101 (GRCm39) |
L79F |
possibly damaging |
Het |
| Ube2q1 |
A |
G |
3: 89,684,548 (GRCm39) |
E14G |
probably benign |
Het |
| Vmn2r28 |
C |
T |
7: 5,490,943 (GRCm39) |
|
probably null |
Het |
| Vwde |
A |
T |
6: 13,193,117 (GRCm39) |
D407E |
probably benign |
Het |
| Wdr35 |
T |
A |
12: 9,066,619 (GRCm39) |
M749K |
probably benign |
Het |
| Zfp109 |
A |
T |
7: 23,928,046 (GRCm39) |
C462* |
probably null |
Het |
|
| Other mutations in Fancl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00755:Fancl
|
APN |
11 |
26,420,916 (GRCm39) |
missense |
probably benign |
|
|
IGL01940:Fancl
|
APN |
11 |
26,409,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02681:Fancl
|
APN |
11 |
26,418,722 (GRCm39) |
splice site |
probably null |
|
|
IGL03063:Fancl
|
APN |
11 |
26,337,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0006:Fancl
|
UTSW |
11 |
26,419,695 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0006:Fancl
|
UTSW |
11 |
26,419,695 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0218:Fancl
|
UTSW |
11 |
26,421,337 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1016:Fancl
|
UTSW |
11 |
26,337,195 (GRCm39) |
unclassified |
probably benign |
|
|
R1802:Fancl
|
UTSW |
11 |
26,409,709 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2018:Fancl
|
UTSW |
11 |
26,372,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2121:Fancl
|
UTSW |
11 |
26,409,841 (GRCm39) |
splice site |
probably benign |
|
|
R4579:Fancl
|
UTSW |
11 |
26,418,423 (GRCm39) |
splice site |
probably null |
|
|
R5495:Fancl
|
UTSW |
11 |
26,347,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6425:Fancl
|
UTSW |
11 |
26,349,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7114:Fancl
|
UTSW |
11 |
26,357,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7139:Fancl
|
UTSW |
11 |
26,353,358 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7302:Fancl
|
UTSW |
11 |
26,353,363 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7324:Fancl
|
UTSW |
11 |
26,353,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8307:Fancl
|
UTSW |
11 |
26,349,642 (GRCm39) |
splice site |
probably benign |
|
|
R8684:Fancl
|
UTSW |
11 |
26,420,826 (GRCm39) |
missense |
|
|
|
R8732:Fancl
|
UTSW |
11 |
26,419,754 (GRCm39) |
missense |
probably benign |
|
|
R9139:Fancl
|
UTSW |
11 |
26,337,231 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9277:Fancl
|
UTSW |
11 |
26,418,847 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9568:Fancl
|
UTSW |
11 |
26,418,672 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTATATGTGAGTGCAGAGTGGATAC -3'
(R):5'- ACATGAAGCCTGTGGGTGTG -3'
Sequencing Primer
(F):5'- ACTGTGATGAGACTAGGTGTTATCTC -3'
(R):5'- AAGCCTGTGGGTGTGTGAAATTAAC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation