Incidental Mutation 'R9248:Nicn1'
| ID |
701367 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nicn1
|
| Ensembl Gene |
ENSMUSG00000032606 |
| Gene Name |
nicolin 1 |
| Synonyms |
1500032A17Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.195)
|
| Stock # |
R9248 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108167642-108173697 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 108171708 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 163
(R163C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035227]
[ENSMUST00000035230]
|
| AlphaFold |
Q9CQM0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035227
AA Change: R163C
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035230
|
| SMART Domains |
Protein: ENSMUSP00000035230
Gene: ENSMUSG00000032607
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCV_T
|
38 |
291 |
7.8e-86 |
PFAM |
|
Pfam:GCV_T_C
|
300 |
392 |
1.6e-23 |
PFAM |
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (55/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein encoded by this gene localizes to the nucleus and is expressed in numerous tissues including brain, testis, liver, and kidney. This refseq contains genomic sequence in its 3' UTR which is not supported by experimental evidence. Computer predictions indicate that this region of the 3' UTR contains hairpin-forming self-complementary sequence which is possibly excised after transcription. This gene has a pseudogene on chromosome X. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1b |
T |
C |
9: 118,983,002 (GRCm39) |
N132S |
probably benign |
Het |
| Agpat2 |
A |
G |
2: 26,483,601 (GRCm39) |
*279Q |
probably null |
Het |
| Akr1c19 |
C |
A |
13: 4,292,974 (GRCm39) |
D243E |
probably benign |
Het |
| Alg2 |
A |
G |
4: 47,474,001 (GRCm39) |
F96L |
probably benign |
Het |
| Apob |
C |
T |
12: 8,065,231 (GRCm39) |
Q4067* |
probably null |
Het |
| C1ra |
A |
T |
6: 124,489,580 (GRCm39) |
|
probably benign |
Het |
| C8a |
T |
C |
4: 104,703,199 (GRCm39) |
Y330C |
probably damaging |
Het |
| Ccdc185 |
A |
G |
1: 182,576,221 (GRCm39) |
V156A |
probably benign |
Het |
| Ces1g |
A |
G |
8: 94,060,319 (GRCm39) |
L100P |
possibly damaging |
Het |
| Cnbd1 |
T |
C |
4: 18,862,113 (GRCm39) |
N359S |
possibly damaging |
Het |
| Crybb2 |
C |
T |
5: 113,211,094 (GRCm39) |
A65T |
probably benign |
Het |
| Dcaf5 |
T |
C |
12: 80,386,563 (GRCm39) |
D521G |
probably benign |
Het |
| Dnmt1 |
A |
G |
9: 20,833,408 (GRCm39) |
F631L |
possibly damaging |
Het |
| Dok1 |
T |
A |
6: 83,008,893 (GRCm39) |
D263V |
possibly damaging |
Het |
| Ecel1 |
A |
G |
1: 87,081,112 (GRCm39) |
F293L |
probably benign |
Het |
| Ehmt1 |
A |
T |
2: 24,738,077 (GRCm39) |
L509Q |
possibly damaging |
Het |
| Fbln2 |
T |
A |
6: 91,231,556 (GRCm39) |
V551E |
possibly damaging |
Het |
| Fig4 |
C |
T |
10: 41,153,478 (GRCm39) |
V108I |
probably benign |
Het |
| Gpa33 |
A |
G |
1: 165,991,396 (GRCm39) |
Y209C |
probably damaging |
Het |
| Heatr5a |
T |
C |
12: 51,963,026 (GRCm39) |
H52R |
|
Het |
| Heatr9 |
A |
T |
11: 83,409,281 (GRCm39) |
D157E |
possibly damaging |
Het |
| Jakmip2 |
A |
C |
18: 43,685,242 (GRCm39) |
M682R |
probably benign |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Layn |
A |
G |
9: 50,968,760 (GRCm39) |
S328P |
possibly damaging |
Het |
| Mblac2 |
A |
G |
13: 81,859,769 (GRCm39) |
D41G |
probably damaging |
Het |
| Mboat1 |
A |
G |
13: 30,410,392 (GRCm39) |
Y283C |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,736,226 (GRCm39) |
V334A |
possibly damaging |
Het |
| Mroh4 |
C |
T |
15: 74,485,167 (GRCm39) |
R515H |
possibly damaging |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Nsrp1 |
G |
A |
11: 76,937,036 (GRCm39) |
R387W |
probably benign |
Het |
| Or5p59 |
T |
C |
7: 107,703,256 (GRCm39) |
S247P |
probably damaging |
Het |
| Or8c16 |
T |
C |
9: 38,130,706 (GRCm39) |
Y193H |
probably benign |
Het |
| Ostm1 |
T |
C |
10: 42,574,210 (GRCm39) |
V301A |
probably damaging |
Het |
| Pcdhb13 |
A |
T |
18: 37,577,608 (GRCm39) |
D662V |
probably damaging |
Het |
| Pfpl |
T |
A |
19: 12,406,374 (GRCm39) |
S208R |
probably damaging |
Het |
| Plin5 |
A |
T |
17: 56,419,324 (GRCm39) |
V366E |
probably damaging |
Het |
| Rmi1 |
A |
G |
13: 58,556,899 (GRCm39) |
I383V |
probably benign |
Het |
| Rnh1 |
T |
C |
7: 140,740,714 (GRCm39) |
T414A |
probably benign |
Het |
| Sash1 |
C |
A |
10: 8,617,296 (GRCm39) |
G537W |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,370,551 (GRCm39) |
N264S |
probably benign |
Het |
| Speg |
A |
C |
1: 75,398,420 (GRCm39) |
T1956P |
probably damaging |
Het |
| St14 |
T |
C |
9: 31,002,905 (GRCm39) |
Y666C |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,727,481 (GRCm39) |
H1448L |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,154,230 (GRCm39) |
|
probably benign |
Het |
| Taf9 |
T |
A |
13: 100,790,860 (GRCm39) |
|
probably benign |
Het |
| Thumpd2 |
G |
A |
17: 81,334,040 (GRCm39) |
A516V |
possibly damaging |
Het |
| Tmem132e |
A |
G |
11: 82,335,308 (GRCm39) |
K797E |
probably damaging |
Het |
| Tpte |
A |
G |
8: 22,841,489 (GRCm39) |
T494A |
possibly damaging |
Het |
| Ttc41 |
T |
A |
10: 86,567,113 (GRCm39) |
L593Q |
probably benign |
Het |
| Uggt1 |
A |
C |
1: 36,249,103 (GRCm39) |
I279S |
possibly damaging |
Het |
| Uxs1 |
A |
G |
1: 43,804,084 (GRCm39) |
F277S |
probably damaging |
Het |
| Vat1 |
A |
T |
11: 101,351,380 (GRCm39) |
N320K |
possibly damaging |
Het |
| Wdr81 |
G |
T |
11: 75,336,256 (GRCm39) |
A592E |
|
Het |
| Zfp780b |
C |
T |
7: 27,673,143 (GRCm39) |
|
probably null |
Het |
| Zfp944 |
A |
T |
17: 22,562,619 (GRCm39) |
|
probably null |
Het |
| Zfp956 |
G |
T |
6: 47,934,437 (GRCm39) |
G136W |
possibly damaging |
Het |
|
| Other mutations in Nicn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02935:Nicn1
|
APN |
9 |
108,167,845 (GRCm39) |
missense |
probably benign |
|
|
R7148:Nicn1
|
UTSW |
9 |
108,172,306 (GRCm39) |
makesense |
probably null |
|
|
R8121:Nicn1
|
UTSW |
9 |
108,172,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8353:Nicn1
|
UTSW |
9 |
108,170,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8453:Nicn1
|
UTSW |
9 |
108,170,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8925:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8927:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8937:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8951:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8962:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8965:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8967:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8987:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8988:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9079:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9145:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9148:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9245:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9246:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9249:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9253:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9254:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9255:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9272:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9273:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9274:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9282:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9320:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9321:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9326:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9379:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9380:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9467:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9507:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9508:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9581:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9582:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9624:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9625:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9628:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9629:Nicn1
|
UTSW |
9 |
108,171,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCCTTCTGCATAAAAGGAGAG -3'
(R):5'- TTGAACCATAGGCCCTAGGTC -3'
Sequencing Primer
(F):5'- TTATGGTTCTGAACATGGATTTCCC -3'
(R):5'- ATAGGCCCTAGGTCCAGAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation