Mutagenetix > Incidental Mutation

Incidental Mutation 'R9326:Nicn1'

706530

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: 0.231) question?

Stock #

R9326 (G1)

Quality Score

225.009

Status

Validated

Chromosome

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: 98.8%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	T	10: 28,849,882 (GRCm39)	Y230*	probably null	Het
Adamts14	A	G	10: 61,036,238 (GRCm39)	S1015P	probably benign	Het
Adamts8	A	G	9: 30,854,886 (GRCm39)	T252A	probably benign	Het
Adamtsl1	T	A	4: 86,150,804 (GRCm39)	S149T	possibly damaging	Het
Afp	A	G	5: 90,652,205 (GRCm39)	K399E	probably damaging	Het
Atp8b1	T	A	18: 64,706,344 (GRCm39)	S222C	probably damaging	Het
Ccdc88c	C	A	12: 100,995,109 (GRCm39)		probably benign	Het
Cfap276	C	T	3: 108,451,931 (GRCm39)	R159W	probably damaging	Het
Cip2a	G	A	16: 48,834,235 (GRCm39)		probably null	Het
Cluh	A	G	11: 74,554,902 (GRCm39)	K780R	probably benign	Het
Cope	C	A	8: 70,755,516 (GRCm39)	F20L	possibly damaging	Het
Cps1	G	T	1: 67,248,795 (GRCm39)	R1174L	probably damaging	Het
Csmd1	G	A	8: 16,049,803 (GRCm39)	T2271I	probably benign	Het
Ctbp2	A	G	7: 132,616,359 (GRCm39)	I192T	probably benign	Het
Dcun1d4	A	G	5: 73,680,018 (GRCm39)	T106A	probably benign	Het
Ddb2	A	T	2: 91,047,559 (GRCm39)	M240K	probably benign	Het
Ddx20	A	T	3: 105,591,735 (GRCm39)	V145D	probably damaging	Het
Ddx31	A	G	2: 28,749,008 (GRCm39)	D268G	probably damaging	Het
Drc7	A	G	8: 95,801,886 (GRCm39)	I716V	probably benign	Het
Epb41l4a	G	T	18: 33,961,261 (GRCm39)	Y424*	probably null	Het
Exog	A	G	9: 119,291,554 (GRCm39)	N277S	probably damaging	Het
Fzd7	T	C	1: 59,522,837 (GRCm39)	L240P	possibly damaging	Het
Gpr87	T	C	3: 59,086,609 (GRCm39)	T299A	probably damaging	Het
Hecw2	A	G	1: 54,079,369 (GRCm39)	Y95H	probably damaging	Het
Idh1	T	C	1: 65,205,416 (GRCm39)	Y183C	probably damaging	Het
Ighv14-4	T	A	12: 114,140,469 (GRCm39)	I7F	possibly damaging	Het
Il1rap	A	T	16: 26,495,641 (GRCm39)	I83F	probably damaging	Het
Jag1	A	G	2: 136,931,745 (GRCm39)	S609P	probably benign	Het
Klhl33	T	C	14: 51,134,615 (GRCm39)	E9G	possibly damaging	Het
Lama2	A	G	10: 26,906,193 (GRCm39)	F2421L	probably benign	Het
Lmod2	A	T	6: 24,597,999 (GRCm39)	I40F	probably damaging	Het
Lsm5	A	T	6: 56,681,616 (GRCm39)	L13Q	possibly damaging	Het
Man2c1	G	T	9: 57,042,904 (GRCm39)	C258F	probably damaging	Het
Mgst1	T	C	6: 138,120,023 (GRCm39)	S28P	probably benign	Het
Msh3	A	T	13: 92,400,307 (GRCm39)	V744E	probably benign	Het
Mtx2	C	T	2: 74,656,287 (GRCm39)		probably benign	Het
N4bp3	C	T	11: 51,535,313 (GRCm39)	R292H	probably benign	Het
Neto2	A	T	8: 86,369,063 (GRCm39)	W354R	probably damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Nutm1	A	T	2: 112,078,692 (GRCm39)	S1074R	possibly damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or10ag56	T	A	2: 87,139,730 (GRCm39)	M219K	probably benign	Het
Or5aq1	T	C	2: 86,966,647 (GRCm39)	H6R	probably benign	Het
Or7g29	A	T	9: 19,286,346 (GRCm39)	M277K	probably damaging	Het
Or8s8	T	C	15: 98,354,935 (GRCm39)	V248A	probably damaging	Het
Pi4kb	T	A	3: 94,900,506 (GRCm39)		probably null	Het
Rgsl1	C	T	1: 153,679,768 (GRCm39)	D103N	probably benign	Het
Rrbp1	G	A	2: 143,806,744 (GRCm39)	T958M	probably damaging	Het
S100a13	G	T	3: 90,423,170 (GRCm39)	D54Y	unknown	Het
Setd2	T	C	9: 110,378,671 (GRCm39)	C829R	probably benign	Het
Snd1	A	T	6: 28,795,842 (GRCm39)	R562*	probably null	Het
Snx27	A	T	3: 94,409,369 (GRCm39)	Y526N	probably damaging	Het
Stab2	A	G	10: 86,791,010 (GRCm39)	L483P	probably damaging	Het
Sybu	A	G	15: 44,537,019 (GRCm39)	S436P	probably damaging	Het
Thy1	A	G	9: 43,957,983 (GRCm39)	D37G	probably damaging	Het
Tmed8	A	T	12: 87,221,395 (GRCm39)	I126N	probably damaging	Het
Tmem161b	T	A	13: 84,440,602 (GRCm39)	L340*	probably null	Het
Tpr	C	T	1: 150,301,407 (GRCm39)	A1331V	possibly damaging	Het
Tprg1	G	A	16: 25,136,107 (GRCm39)	E33K	probably benign	Het
Vps26b	T	C	9: 26,930,627 (GRCm39)	N123D	probably damaging	Het
Wdr7	G	A	18: 63,872,260 (GRCm39)	S398N	probably benign	Het
Zbtb48	T	C	4: 152,111,509 (GRCm39)	D2G	probably damaging	Het
Zfp975	G	A	7: 42,311,837 (GRCm39)	R259*	probably null	Het
Zfp986	T	A	4: 145,626,451 (GRCm39)	H370Q	probably 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
R9248: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
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'- ATGGTTCTGAACATGGATTTCCC -3'
(R):5'- ACCAGGGATGACTCAAAGCC -3'

Sequencing Primer
(F):5'- TCCCAGTGTCTTAGGCTCAAGG -3'
(R):5'- TTGAACCATAGGCCCTAGGTC -3'

Posted On

2022-04-18