Mutagenetix > Incidental Mutation

Incidental Mutation 'R8453:Nicn1'

654867

Institutional Source

Beutler Lab

Gene Symbol

Nicn1

Ensembl Gene

ENSMUSG00000032606

Gene Name

nicolin 1

Synonyms

1500032A17Rik

MMRRC Submission

067904-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.195) question?

Stock #

R8453 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108167642-108173697 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108170572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 57 (F57Y)

Ref Sequence

ENSEMBL: ENSMUSP00000035227 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035227] [ENSMUST00000035230]

AlphaFold

Q9CQM0

Predicted Effect

probably damaging
Transcript: ENSMUST00000035227
AA Change: F57Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (68/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	G	T	9: 101,815,884 (GRCm39)	C23F	possibly damaging	Het
Adam29	T	C	8: 56,326,196 (GRCm39)	H86R	possibly damaging	Het
Alas1	C	T	9: 106,113,721 (GRCm39)	R508Q	possibly damaging	Het
Albfm1	A	T	5: 90,714,360 (GRCm39)	R123S	possibly damaging	Het
Ark2n	T	C	18: 77,761,604 (GRCm39)	E236G	probably damaging	Het
Bmp3	G	A	5: 99,003,282 (GRCm39)		probably null	Het
Bud13	A	G	9: 46,199,499 (GRCm39)	T287A	probably benign	Het
C3	T	C	17: 57,519,643 (GRCm39)	E1203G	probably benign	Het
Carmil2	A	C	8: 106,416,843 (GRCm39)	Q476P	probably damaging	Het
Ccdc187	T	A	2: 26,166,458 (GRCm39)	T707S	probably damaging	Het
Cfap43	A	T	19: 47,735,086 (GRCm39)	V1435E	probably damaging	Het
Chrm3	A	T	13: 9,927,267 (GRCm39)	*590K	probably null	Het
Commd1	C	T	11: 22,928,503 (GRCm39)		probably benign	Het
Creb3l1	A	T	2: 91,821,274 (GRCm39)	Y314*	probably null	Het
Ctc1	T	A	11: 68,913,275 (GRCm39)	S90R	probably benign	Het
Dixdc1	T	C	9: 50,596,186 (GRCm39)	Q413R	probably benign	Het
Dlg5	T	C	14: 24,208,213 (GRCm39)	T998A	probably benign	Het
Dnai4	A	G	4: 102,917,113 (GRCm39)	I577T	possibly damaging	Het
Eif1ad14	C	T	12: 87,886,323 (GRCm39)	S102N	probably benign	Het
Fam89b	A	G	19: 5,778,903 (GRCm39)	S99P	possibly damaging	Het
Fbxo30	A	G	10: 11,166,479 (GRCm39)	I400M	probably benign	Het
Gad1	A	T	2: 70,431,057 (GRCm39)	M567L	probably benign	Het
Gemin5	T	C	11: 58,016,065 (GRCm39)	S1314G	probably benign	Het
Gm9195	T	G	14: 72,678,201 (GRCm39)	I2323L	probably benign	Het
Gria1	T	A	11: 57,133,877 (GRCm39)	F585L	probably damaging	Het
Hbs1l	A	T	10: 21,185,178 (GRCm39)	H200L	probably benign	Het
Igsf5	A	G	16: 96,222,996 (GRCm39)	Q360R	probably benign	Het
Il31ra	A	T	13: 112,660,717 (GRCm39)	V624E	probably damaging	Het
Iqsec3	T	C	6: 121,364,779 (GRCm39)	R837G	probably damaging	Het
Itprid2	T	C	2: 79,475,129 (GRCm39)	S363P	probably benign	Het
Lpl	A	G	8: 69,348,433 (GRCm39)	I221V	probably damaging	Het
Mcf2l	T	C	8: 13,034,956 (GRCm39)		probably null	Het
Mink1	T	A	11: 70,501,154 (GRCm39)	D887E	possibly damaging	Het
Mmp10	T	G	9: 7,508,203 (GRCm39)	F443C	probably damaging	Het
Mmrn1	T	A	6: 60,965,361 (GRCm39)	Y1131N	probably damaging	Het
Mrc2	T	A	11: 105,223,137 (GRCm39)	V460E	probably damaging	Het
Nlrp4b	A	G	7: 10,449,528 (GRCm39)	Y577C	probably damaging	Het
Nrap	T	C	19: 56,312,352 (GRCm39)	T1535A	probably damaging	Het
Opa1	G	A	16: 29,439,686 (GRCm39)	R755H	probably damaging	Het
P4htm	C	T	9: 108,457,566 (GRCm39)		probably benign	Het
Phldb2	A	G	16: 45,645,385 (GRCm39)	S354P	probably benign	Het
Phykpl	T	C	11: 51,489,121 (GRCm39)	S316P	probably damaging	Het
Pnpla1	T	A	17: 29,077,873 (GRCm39)	D11E	probably benign	Het
Pold2	A	G	11: 5,825,104 (GRCm39)	F98L	probably damaging	Het
Prph	G	A	15: 98,954,657 (GRCm39)	R241Q	probably benign	Het
Rcl1	T	C	19: 29,093,159 (GRCm39)	I58T	possibly damaging	Het
Rps6ka2	A	G	17: 7,514,151 (GRCm39)	N117D	probably benign	Het
Sars1	G	A	3: 108,336,029 (GRCm39)	S331L	probably benign	Het
Scfd1	A	C	12: 51,459,374 (GRCm39)	K312Q	possibly damaging	Het
Senp5	A	G	16: 31,808,166 (GRCm39)	C363R	probably benign	Het
Senp7	A	G	16: 56,008,691 (GRCm39)	I1024V	probably damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sptbn4	A	G	7: 27,103,663 (GRCm39)	L1191P	probably damaging	Het
Stk40	A	G	4: 126,022,766 (GRCm39)	E180G	probably damaging	Het
Stxbp5	A	T	10: 9,684,792 (GRCm39)	V536E	probably benign	Het
Suco	A	T	1: 161,650,586 (GRCm39)		probably benign	Het
Tex15	G	T	8: 34,066,899 (GRCm39)	E2110*	probably null	Het
Thbs4	G	A	13: 92,927,325 (GRCm39)	P55S	probably benign	Het
Tmem115	T	C	9: 107,411,997 (GRCm39)	V107A	probably benign	Het
Tnfaip6	A	C	2: 51,945,879 (GRCm39)	I242L	probably benign	Het
Trabd	G	T	15: 88,969,616 (GRCm39)	A270S	possibly damaging	Het
Trim30d	T	A	7: 104,136,947 (GRCm39)	I86F	probably damaging	Het
Trpc7	A	G	13: 56,970,372 (GRCm39)	V404A	probably benign	Het
Vmn1r61	A	G	7: 5,613,886 (GRCm39)	Y143H	probably benign	Het
Vmn2r18	T	A	5: 151,485,373 (GRCm39)	D707V	probably damaging	Het
Vnn3	G	A	10: 23,745,443 (GRCm39)	R464H	probably benign	Het
Wdr27	T	C	17: 15,112,751 (GRCm39)	T652A	probably benign	Het
Yeats2	C	T	16: 20,041,637 (GRCm39)	R1176*	probably null	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
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
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'- ATTTGGGCCACAGTAATTGTTG -3'
(R):5'- AGTATTCCCTGGCCATGCTG -3'

Sequencing Primer
(F):5'- GATTTCTGAGTTCGAAGCCAGCC -3'
(R):5'- TGAGGCCCAGCTGACCTG -3'

Posted On

2020-10-20