Mutagenetix > Incidental Mutation

Incidental Mutation 'R9653:Nucb1'

727184

Institutional Source

Beutler Lab

Gene Symbol

Nucb1

Ensembl Gene

ENSMUSG00000030824

Gene Name

nucleobindin 1

Synonyms

Calnuc, B230337F23Rik, MTEST82

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9653 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45142300-45159813 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45144202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 337 (M337T)

Ref Sequence

ENSEMBL: ENSMUSP00000147383 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033096] [ENSMUST00000107758] [ENSMUST00000107759] [ENSMUST00000210813] [ENSMUST00000211343] [ENSMUST00000211682] [ENSMUST00000211765]

AlphaFold

Q02819

Predicted Effect

probably benign
Transcript: ENSMUST00000033096
AA Change: M337T

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000033096
Gene: ENSMUSG00000030824
AA Change: M337T

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:EF-hand_7	227	319	2.1e-9	PFAM
coiled coil region	340	407	N/A	INTRINSIC
low complexity region	420	433	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107758

SMART Domains

Protein: ENSMUSP00000103387
Gene: ENSMUSG00000023467

Domain	Start	End	E-Value	Type
low complexity region	100	108	N/A	INTRINSIC
Pfam:Tub	203	451	4.1e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107759

SMART Domains

Protein: ENSMUSP00000103388
Gene: ENSMUSG00000023467

Domain	Start	End	E-Value	Type
low complexity region	100	108	N/A	INTRINSIC
Pfam:Tub	203	444	3.4e-117	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000210813

Predicted Effect

probably benign
Transcript: ENSMUST00000211343

Predicted Effect

probably benign
Transcript: ENSMUST00000211682

Predicted Effect

probably benign
Transcript: ENSMUST00000211765
AA Change: M337T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a small calcium-binding EF-hand protein family. The encoded protein is thought to have a key role in Golgi calcium homeostasis and Ca(2+)-regulated signal transduction events. [provided by RefSeq, Jun 2010]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,243,741 (GRCm39)	P1868L	probably benign	Het
Abcc1	T	C	16: 14,214,257 (GRCm39)	Y191H	probably damaging	Het
Adamtsl5	C	T	10: 80,180,763 (GRCm39)	G100R	probably damaging	Het
Adgrg5	C	T	8: 95,663,864 (GRCm39)	P235S		Het
Anks1b	T	G	10: 90,346,524 (GRCm39)	L608R	probably damaging	Het
Ano10	C	G	9: 122,080,221 (GRCm39)	A597P	possibly damaging	Het
Calb2	T	C	8: 110,881,374 (GRCm39)	M58V	probably benign	Het
Ccdc180	T	C	4: 45,923,495 (GRCm39)	I1092T	probably damaging	Het
Ces3b	G	T	8: 105,812,257 (GRCm39)	A169S	probably damaging	Het
Chmp2a	A	T	7: 12,766,456 (GRCm39)	F129I	probably damaging	Het
Clasp2	T	A	9: 113,670,993 (GRCm39)	W365R	probably benign	Het
Col12a1	T	C	9: 79,584,556 (GRCm39)	K1344R	probably benign	Het
Col3a1	A	G	1: 45,360,728 (GRCm39)	I53V	unknown	Het
Coro2b	T	C	9: 62,335,259 (GRCm39)	Y309C	probably damaging	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Crygs	T	A	16: 22,625,304 (GRCm39)	T46S	probably benign	Het
Ctbp2	C	G	7: 132,615,933 (GRCm39)	R334P	probably damaging	Het
Dcstamp	A	T	15: 39,623,792 (GRCm39)	D469V	probably benign	Het
Dhdh	T	C	7: 45,128,551 (GRCm39)	D209G	probably damaging	Het
Dnah7b	T	C	1: 46,252,544 (GRCm39)	V1742A	possibly damaging	Het
Dnaja2	T	C	8: 86,265,982 (GRCm39)	T368A	probably benign	Het
Dscaml1	T	C	9: 45,643,466 (GRCm39)		probably null	Het
Eps8l1	A	T	7: 4,481,886 (GRCm39)	K704M	unknown	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fgd4	T	A	16: 16,254,461 (GRCm39)	H524L	probably benign	Het
Fktn	T	A	4: 53,731,273 (GRCm39)	F103I	probably benign	Het
Gcc2	T	C	10: 58,110,822 (GRCm39)	M1001T	possibly damaging	Het
Gm4847	T	C	1: 166,467,582 (GRCm39)	S205G	possibly damaging	Het
Grid2	A	T	6: 63,907,968 (GRCm39)	N203Y	possibly damaging	Het
Hif3a	G	A	7: 16,782,641 (GRCm39)	A308V	probably damaging	Het
Htr5a	A	G	5: 28,047,838 (GRCm39)	N131S	possibly damaging	Het
Igfn1	G	A	1: 135,883,323 (GRCm39)	Q2728*	probably null	Het
Ighv5-16	C	A	12: 113,802,313 (GRCm39)	K62N	possibly damaging	Het
Ip6k3	A	T	17: 27,367,588 (GRCm39)	Y203N	possibly damaging	Het
Itga2	G	A	13: 115,020,991 (GRCm39)	P120L	probably benign	Het
Itpkb	G	T	1: 180,160,056 (GRCm39)	E61*	probably null	Het
Kcnj3	G	A	2: 55,484,864 (GRCm39)	V321M	probably damaging	Het
Kmt2c	A	G	5: 25,507,819 (GRCm39)	L3206P	probably damaging	Het
Krtap5-4	T	C	7: 141,857,908 (GRCm39)	C193R	unknown	Het
Large1	G	T	8: 73,564,106 (GRCm39)	H553Q	probably benign	Het
Lrfn5	T	A	12: 61,890,418 (GRCm39)	V569D	probably damaging	Het
Luzp2	A	G	7: 54,702,580 (GRCm39)	T48A	probably damaging	Het
Lypd6	A	T	2: 50,080,758 (GRCm39)	T149S	probably benign	Het
Map3k1	T	C	13: 111,890,296 (GRCm39)	N1301S	possibly damaging	Het
Ndufv2	C	T	17: 66,396,251 (GRCm39)	W91*	probably null	Het
Nisch	A	T	14: 30,893,628 (GRCm39)	V1315E	probably damaging	Het
Npas1	T	C	7: 16,190,146 (GRCm39)	I467V	probably benign	Het
Oog3	T	G	4: 143,884,489 (GRCm39)	R482S	probably benign	Het
Or10d4b	T	C	9: 39,535,154 (GRCm39)	L243P	probably damaging	Het
Or4f14c	A	T	2: 111,941,261 (GRCm39)	M112K	probably damaging	Het
Or51ag1	C	T	7: 103,155,727 (GRCm39)	R142H	probably benign	Het
Or56a42-ps1	A	T	7: 104,775,985 (GRCm39)	N164K	probably benign	Het
Padi2	T	C	4: 140,662,036 (GRCm39)		probably null	Het
Pam	C	T	1: 97,768,469 (GRCm39)	V660M	possibly damaging	Het
Phc2	C	T	4: 128,641,012 (GRCm39)	L700F	probably damaging	Het
Plekha1	T	C	7: 130,479,494 (GRCm39)	V4A	possibly damaging	Het
Rai1	A	G	11: 60,080,142 (GRCm39)	E1402G	probably benign	Het
Recql5	G	A	11: 115,788,032 (GRCm39)	A429V	probably benign	Het
Rere	A	G	4: 150,516,010 (GRCm39)	N101S	probably benign	Het
Robo1	T	G	16: 72,821,330 (GRCm39)	S1357A	possibly damaging	Het
Rsl1	T	A	13: 67,330,106 (GRCm39)	Y185N	probably damaging	Het
Rsph3a	T	C	17: 8,165,074 (GRCm39)	S145P	possibly damaging	Het
Sall1	T	C	8: 89,757,506 (GRCm39)	E866G	probably damaging	Het
Sall3	A	T	18: 81,016,228 (GRCm39)	S567T	probably benign	Het
Sap30	G	A	8: 57,938,156 (GRCm39)	Q154*	probably null	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Scn8a	A	G	15: 100,937,947 (GRCm39)	E1772G	probably damaging	Het
Scube3	C	T	17: 28,375,772 (GRCm39)	A169V	probably damaging	Het
Sema6c	T	C	3: 95,080,525 (GRCm39)	S940P	probably benign	Het
Sertad4	C	T	1: 192,528,836 (GRCm39)	D327N	probably damaging	Het
Shisal2b	A	G	13: 105,000,296 (GRCm39)		probably benign	Het
Skp1	A	G	11: 52,134,514 (GRCm39)	T82A	possibly damaging	Het
Slc39a14	G	T	14: 70,547,248 (GRCm39)	T366K	probably damaging	Het
Snrnp200	G	T	2: 127,067,959 (GRCm39)	V819L	probably damaging	Het
Sntg1	T	A	1: 8,433,749 (GRCm39)	T501S	unknown	Het
Srsf12	T	C	4: 33,231,249 (GRCm39)	S253P	possibly damaging	Het
Sycp2l	A	G	13: 41,295,381 (GRCm39)	S315G	probably benign	Het
Tars2	T	C	3: 95,655,379 (GRCm39)	Y337C	probably damaging	Het
Thbs4	T	C	13: 92,898,022 (GRCm39)	D599G	probably benign	Het
Tmem200c	A	G	17: 69,149,181 (GRCm39)	H588R	probably benign	Het
Tmem255b	T	A	8: 13,506,005 (GRCm39)	V204E	probably damaging	Het
Usp24	T	A	4: 106,204,564 (GRCm39)	M261K	probably benign	Het
Utrn	T	A	10: 12,497,123 (GRCm39)	I2429F	probably benign	Het
Utrn	C	T	10: 12,539,189 (GRCm39)	A1943T	probably benign	Het
Vmn2r85	A	T	10: 130,261,694 (GRCm39)	D214E	probably damaging	Het
Wdr81	G	T	11: 75,340,213 (GRCm39)	P183T		Het
Zfp28	G	A	7: 6,395,623 (GRCm39)	R134H		Het
Zfp532	T	A	18: 65,756,308 (GRCm39)	D80E	possibly damaging	Het
Zfyve26	T	C	12: 79,334,418 (GRCm39)	D200G	probably benign	Het

Other mutations in Nucb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Nucb1	APN	7	45,151,075 (GRCm39)	missense	probably damaging	1.00
IGL02496:Nucb1	APN	7	45,144,467 (GRCm39)	splice site	probably benign
G1citation:Nucb1	UTSW	7	45,148,289 (GRCm39)	missense	probably damaging	1.00
R1509:Nucb1	UTSW	7	45,144,649 (GRCm39)	missense	probably benign	0.06
R1663:Nucb1	UTSW	7	45,148,288 (GRCm39)	missense	probably damaging	1.00
R3499:Nucb1	UTSW	7	45,148,300 (GRCm39)	missense	probably benign	0.01
R4291:Nucb1	UTSW	7	45,144,704 (GRCm39)	missense	probably damaging	1.00
R4983:Nucb1	UTSW	7	45,148,313 (GRCm39)	missense	probably damaging	1.00
R5307:Nucb1	UTSW	7	45,147,842 (GRCm39)	missense	probably damaging	0.98
R5739:Nucb1	UTSW	7	45,151,084 (GRCm39)	missense	probably damaging	1.00
R6822:Nucb1	UTSW	7	45,148,289 (GRCm39)	missense	probably damaging	1.00
R6874:Nucb1	UTSW	7	45,152,618 (GRCm39)	missense	probably benign	0.13
R6927:Nucb1	UTSW	7	45,148,282 (GRCm39)	missense	possibly damaging	0.58
R7424:Nucb1	UTSW	7	45,148,202 (GRCm39)	missense	possibly damaging	0.68
R7514:Nucb1	UTSW	7	45,151,142 (GRCm39)	splice site	probably null
R9617:Nucb1	UTSW	7	45,148,159 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TAACATGGCAGCTACAGGCC -3'
(R):5'- GGTTCCGAATTCTGCCATTC -3'

Sequencing Primer
(F):5'- CAGAGAATGGGCCCGAATTCC -3'
(R):5'- GAATTCTGCCATTCCCTATCTAGAC -3'

Posted On

2022-10-06