Mutagenetix > Incidental Mutation

Incidental Mutation 'R9321:Nicn1'

706212

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 #

R9321 (G1)

Quality Score

225.009

Status

Not 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: 99.7%
20x: 99.1%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,460,475 (GRCm39)	S4162G	probably benign	Het
Acvr2b	T	C	9: 119,257,351 (GRCm39)	I152T	probably benign	Het
Adam15	T	A	3: 89,254,794 (GRCm39)		probably null	Het
Adam34	C	T	8: 44,105,243 (GRCm39)	G134D	probably damaging	Het
Aifm2	C	T	10: 61,571,410 (GRCm39)	Q315*	probably null	Het
Akap10	A	G	11: 61,791,235 (GRCm39)	F408S	probably damaging	Het
Ap3b2	T	C	7: 81,114,252 (GRCm39)		probably null	Het
Btbd2	A	C	10: 80,483,675 (GRCm39)	V181G	probably damaging	Het
Carmil3	G	T	14: 55,741,425 (GRCm39)	G1070V		Het
Ceacam2	G	T	7: 25,230,089 (GRCm39)	D172E	possibly damaging	Het
Crtc3	G	A	7: 80,259,650 (GRCm39)	A203V	probably benign	Het
Dclre1a	A	G	19: 56,531,100 (GRCm39)	S749P	probably damaging	Het
Dnah2	C	T	11: 69,338,939 (GRCm39)		probably null	Het
Eif2ak4	G	A	2: 118,292,798 (GRCm39)	V1341M	possibly damaging	Het
Enpp5	T	C	17: 44,393,689 (GRCm39)	V295A	possibly damaging	Het
Gm1110	T	A	9: 26,831,891 (GRCm39)	M87L	probably benign	Het
Gm57858	A	T	3: 36,073,139 (GRCm39)	V381E	probably damaging	Het
H2-Ab1	T	C	17: 34,486,969 (GRCm39)	L241P	probably damaging	Het
Hmx2	A	G	7: 131,157,320 (GRCm39)	T145A	probably benign	Het
Irag1	A	G	7: 110,524,534 (GRCm39)	S138P	probably benign	Het
Itpripl1	T	C	2: 126,984,000 (GRCm39)	S41G	probably benign	Het
Kcnb2	G	A	1: 15,779,793 (GRCm39)	D222N	possibly damaging	Het
Ldb3	C	A	14: 34,266,099 (GRCm39)	G499*	probably null	Het
Lig1	T	C	7: 13,034,935 (GRCm39)	F577S	probably damaging	Het
Lnx1	T	C	5: 74,780,991 (GRCm39)	I177V	probably damaging	Het
Mark4	G	T	7: 19,170,901 (GRCm39)	T323K	probably benign	Het
Mroh5	A	G	15: 73,661,113 (GRCm39)	V301A	probably benign	Het
Mtx3	T	A	13: 92,984,097 (GRCm39)	W125R	probably damaging	Het
Myo18a	G	A	11: 77,733,370 (GRCm39)	G1404R	probably damaging	Het
Myom2	C	T	8: 15,172,464 (GRCm39)	P1188S	possibly damaging	Het
Nars1	C	T	18: 64,637,950 (GRCm39)	E335K	probably damaging	Het
Nfya	A	T	17: 48,707,494 (GRCm39)	V16E	unknown	Het
Nlrp4e	C	G	7: 23,020,755 (GRCm39)	A414G	probably benign	Het
Nme5	T	G	18: 34,704,597 (GRCm39)	I83L	probably benign	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nptx1	A	G	11: 119,438,378 (GRCm39)	L13P	unknown	Het
Or11g27	G	A	14: 50,771,471 (GRCm39)	V201I	probably benign	Het
Or13c25	G	T	4: 52,911,314 (GRCm39)	T160N	probably damaging	Het
Or13m2-ps1	T	A	6: 42,777,792 (GRCm39)	V39D	possibly damaging	Het
Or4k44	A	G	2: 111,368,434 (GRCm39)	S67P	probably damaging	Het
Or5j3	A	T	2: 86,128,297 (GRCm39)	I46F	probably benign	Het
Or6d13	T	C	6: 116,518,370 (GRCm39)	Y319H	probably benign	Het
Pdzd2	T	C	15: 12,386,023 (GRCm39)	T916A	probably benign	Het
Plekha6	A	G	1: 133,209,549 (GRCm39)	N615S	probably damaging	Het
Prorp	A	G	12: 55,351,434 (GRCm39)	I248V	possibly damaging	Het
Rad52	T	C	6: 119,889,969 (GRCm39)	Y32H	probably damaging	Het
Slc22a16	T	A	10: 40,450,047 (GRCm39)	I161N	probably damaging	Het
Slx4	A	G	16: 3,804,654 (GRCm39)	M720T	probably benign	Het
Spem1	T	C	11: 69,712,661 (GRCm39)	H58R	probably benign	Het
Spg7	C	A	8: 123,803,688 (GRCm39)	D239E	probably benign	Het
Tas2r123	A	T	6: 132,825,095 (GRCm39)	M331L	probably benign	Het
Tcaf1	T	C	6: 42,656,290 (GRCm39)	T229A	probably benign	Het
Tdrd1	T	C	19: 56,848,767 (GRCm39)	L939P	probably damaging	Het
Timd2	T	C	11: 46,577,916 (GRCm39)	T72A	probably benign	Het
Tmem179	G	T	12: 112,477,390 (GRCm39)	N31K	probably damaging	Het
Tpd52l1	T	C	10: 31,214,189 (GRCm39)	S165G		Het
Tubgcp6	T	C	15: 88,992,186 (GRCm39)	T600A	probably damaging	Het
Txlna	T	A	4: 129,528,246 (GRCm39)	E230D	probably damaging	Het
Ush2a	A	T	1: 188,089,148 (GRCm39)	I368F	probably damaging	Het
Vmn1r76	A	T	7: 11,665,094 (GRCm39)	M40K	possibly damaging	Het
Zfp592	C	T	7: 80,691,226 (GRCm39)	S1135L	possibly damaging	Het
Zfp606	A	G	7: 12,226,610 (GRCm39)	T244A	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
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
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'- GGTTCCCCTTCTGCATAAAAGG -3'
(R):5'- TGAACCATAGGCCCTAGGTC -3'

Sequencing Primer
(F):5'- TTATGGTTCTGAACATGGATTTCCC -3'
(R):5'- ATAGGCCCTAGGTCCAGAC -3'

Posted On

2022-04-18