Incidental Mutation 'RF051:Nalf2'
| ID |
605156 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nalf2
|
| Ensembl Gene |
ENSMUSG00000071719 |
| Gene Name |
NALCN channel auxiliary factor 2 |
| Synonyms |
EG620592, Tmem28, Fam155b |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
RF051 (G1)
|
| Quality Score |
122.467 |
|
Status
|
Not validated
|
| Chromosome |
X |
| Chromosomal Location |
98864627-98892396 bp(+) (GRCm39) |
| Type of Mutation |
small insertion (2 aa in frame mutation) |
| DNA Base Change (assembly) |
GCCGCC to GCCGCCACCGCC
at 98864968 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096363]
|
| AlphaFold |
A2BDP1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096363
|
| SMART Domains |
Protein: ENSMUSP00000094090
Gene: ENSMUSG00000071719
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
90 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
381 |
401 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
447 |
457 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a product belonging to a family of proteins with unknown function. The presence of two transmembrane domains suggests that this protein is a multi-pass membrane protein. [provided by RefSeq, Sep 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cnpy3 |
CTC |
CTCATC |
17: 47,047,674 (GRCm39) |
|
probably benign |
Het |
| Gabre |
CTCCGG |
CTCCGGGTCCGG |
X: 71,313,655 (GRCm39) |
|
probably benign |
Het |
| Garin5a |
GGGTCTGAGGGAGGA |
GGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCTAGGTCTGAGGGAGGA |
7: 44,149,947 (GRCm39) |
|
probably null |
Het |
| Gm14399 |
G |
C |
2: 174,972,994 (GRCm39) |
Q254E |
probably benign |
Het |
| Hsdl2 |
TGC |
TGCCGGAGCAGCCACAGCGGC |
4: 59,610,636 (GRCm39) |
|
probably benign |
Het |
| Hsdl2 |
CAGCTGCAG |
CAGCTGCAGCAGCAGCCAAAGCTGCAG |
4: 59,610,650 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GGG |
GGGGCTTGAAGTGGG |
3: 37,179,990 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
CCTTCT |
CCT |
5: 25,518,477 (GRCm39) |
|
probably benign |
Het |
| Manbal |
CGATAGAAT |
C |
2: 157,237,932 (GRCm39) |
|
probably null |
Het |
| Map1a |
CTCCAGCTCCAGCTCCAGCTCCA |
CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCA |
2: 121,136,777 (GRCm39) |
|
probably benign |
Het |
| Mei1 |
GC |
GCTGGCTGCC |
15: 81,954,211 (GRCm39) |
|
probably null |
Het |
| Nbea |
TTTA |
T |
3: 55,916,633 (GRCm39) |
|
probably benign |
Het |
| Nefh |
TGGCC |
TGGCCGCACCTGGGGCCTCGGCC |
11: 4,891,054 (GRCm39) |
|
probably benign |
Het |
| Or2b7 |
GCCAAACCCTGTGAGCAAGCAGTTATAACCATCTTTATGCAAACCCTGTGAGCAAGCAGTTATAACCATCTTTAT |
GGCAAACCCTGTGAGCAAGCAGTTATAACCATCTTTAT |
13: 21,739,693 (GRCm39) |
|
probably null |
Het |
| Pde3b |
GGTGGTGGTG |
GGTGGTGGTGGTG |
7: 114,134,010 (GRCm39) |
|
probably benign |
Het |
| Plekhg2 |
GGTG |
GG |
7: 28,061,777 (GRCm39) |
|
probably null |
Het |
| Rassf6 |
AGCAATGGGGA |
AGCAATGGGGAATCTGCCTCACTCATGGTCCTGTAGCGCAATGGGGA |
5: 90,756,788 (GRCm39) |
|
probably benign |
Het |
| Smarca2 |
AGCAGC |
AGCAGCCGCAGC |
19: 26,608,388 (GRCm39) |
|
probably benign |
Het |
| Stard8 |
GAG |
GAGCAG |
X: 98,110,130 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
CTTGGC |
CTTGGCTGCTGAGATGGGCACTTTCCCAGAGATCCCATTGGC |
18: 60,966,651 (GRCm39) |
|
probably benign |
Het |
| Triobp |
AGCCCCAGGACTCCCTGTGCCCAACGG |
AGCCCCAGGACTCCCTGTGCCCAACGGAACAGCCCCAGGACTCCCTGTGCCCAACGG |
15: 78,851,234 (GRCm39) |
|
probably benign |
Het |
| Usp2 |
C |
CTCATGTGACCTGTTCTTCACTTCT |
9: 44,000,426 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Nalf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R3405:Nalf2
|
UTSW |
X |
98,889,109 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3406:Nalf2
|
UTSW |
X |
98,889,109 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3932:Nalf2
|
UTSW |
X |
98,865,470 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3933:Nalf2
|
UTSW |
X |
98,865,470 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9393:Nalf2
|
UTSW |
X |
98,889,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9395:Nalf2
|
UTSW |
X |
98,889,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9396:Nalf2
|
UTSW |
X |
98,889,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF011:Nalf2
|
UTSW |
X |
98,864,967 (GRCm39) |
small insertion |
probably benign |
|
|
RF017:Nalf2
|
UTSW |
X |
98,864,971 (GRCm39) |
small insertion |
probably benign |
|
|
RF018:Nalf2
|
UTSW |
X |
98,864,967 (GRCm39) |
small insertion |
probably benign |
|
|
RF033:Nalf2
|
UTSW |
X |
98,864,979 (GRCm39) |
small insertion |
probably benign |
|
|
RF039:Nalf2
|
UTSW |
X |
98,864,978 (GRCm39) |
small insertion |
probably benign |
|
|
X0033:Nalf2
|
UTSW |
X |
98,864,727 (GRCm39) |
small deletion |
probably benign |
|
|
X0036:Nalf2
|
UTSW |
X |
98,864,727 (GRCm39) |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCAGAGCGACAAACCTTG -3'
(R):5'- GTGGTCGGTTCGAAAAGTCTC -3'
Sequencing Primer
(F):5'- AAACCTTGCGCCGATTCG -3'
(R):5'- TCGGTTCGAAAAGTCTCTGCAAAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation