Mutagenetix > Incidental Mutation

Incidental Mutation 'R9652:Nubp2'

735414

Institutional Source

Beutler Lab

Gene Symbol

Nubp2

Ensembl Gene

ENSMUSG00000039183

Gene Name

nucleotide binding protein 2

Synonyms

D17Wsu11e

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9652 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25101585-25105323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25103382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 165 (T165I)

Ref Sequence

ENSEMBL: ENSMUSP00000049319 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024976] [ENSMUST00000044252] [ENSMUST00000050714] [ENSMUST00000068508] [ENSMUST00000117890] [ENSMUST00000119829] [ENSMUST00000119848] [ENSMUST00000120943] [ENSMUST00000130194] [ENSMUST00000144430] [ENSMUST00000168265]

AlphaFold

Q9R061

Predicted Effect

probably benign
Transcript: ENSMUST00000024976

SMART Domains

Protein: ENSMUSP00000024976
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	34	45	N/A	INTRINSIC
low complexity region	52	65	N/A	INTRINSIC
low complexity region	73	84	N/A	INTRINSIC
low complexity region	133	144	N/A	INTRINSIC
Pfam:SPRY	181	304	5.7e-18	PFAM
SOCS_box	309	347	2.8e0	SMART
low complexity region	364	373	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000044252
AA Change: T165I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049319
Gene: ENSMUSG00000039183
AA Change: T165I

Domain	Start	End	E-Value	Type
Pfam:ParA	16	267	3.2e-99	PFAM
Pfam:ArsA_ATPase	19	66	1.7e-8	PFAM
Pfam:AAA_31	19	79	1.5e-8	PFAM
Pfam:MipZ	19	155	2.1e-10	PFAM
Pfam:CbiA	21	199	2.2e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000050714

SMART Domains

Protein: ENSMUSP00000060169
Gene: ENSMUSG00000046070

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
LRRNT	40	78	9.37e-10	SMART
LRR	77	96	1.62e1	SMART
LRR	97	120	1.41e1	SMART
LRR_TYP	121	144	6.78e-3	SMART
LRR	145	168	1.03e1	SMART
LRR_TYP	169	192	1.1e-2	SMART
LRR	193	216	2.17e-1	SMART
LRR_TYP	217	240	2.4e-3	SMART
LRR_TYP	241	264	1.82e-3	SMART
LRR	265	288	5.72e-1	SMART
LRR_TYP	289	312	6.23e-2	SMART
LRR_TYP	313	336	6.32e-3	SMART
LRR_TYP	337	360	2.2e-2	SMART
LRR	361	384	1.89e-1	SMART
LRR	385	408	3.87e1	SMART
LRR	409	432	2.67e-1	SMART
LRR_TYP	433	456	1.06e-4	SMART
LRR_TYP	457	480	6.78e-3	SMART
LRR	481	504	1.09e2	SMART
LRR	505	530	2.68e1	SMART
LRRCT	535	582	5.11e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000068508

SMART Domains

Protein: ENSMUSP00000068567
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	17	30	N/A	INTRINSIC
low complexity region	38	49	N/A	INTRINSIC
low complexity region	98	109	N/A	INTRINSIC
Pfam:SPRY	146	252	1.3e-13	PFAM
low complexity region	295	308	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117890

SMART Domains

Protein: ENSMUSP00000112380
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	17	30	N/A	INTRINSIC
low complexity region	38	49	N/A	INTRINSIC
low complexity region	98	109	N/A	INTRINSIC
Pfam:SPRY	146	269	1.6e-18	PFAM
SOCS_box	274	312	2.8e0	SMART
low complexity region	329	338	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119829

SMART Domains

Protein: ENSMUSP00000112589
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	17	30	N/A	INTRINSIC
low complexity region	38	49	N/A	INTRINSIC
low complexity region	98	109	N/A	INTRINSIC
Pfam:SPRY	146	294	6.9e-16	PFAM
SOCS_box	299	337	2.8e0	SMART
low complexity region	354	363	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119848

SMART Domains

Protein: ENSMUSP00000113167
Gene: ENSMUSG00000073436

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC
ERCC4	71	320	8.51e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120943

SMART Domains

Protein: ENSMUSP00000112492
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	17	30	N/A	INTRINSIC
low complexity region	38	49	N/A	INTRINSIC
low complexity region	98	109	N/A	INTRINSIC
Pfam:SPRY	146	269	1.6e-18	PFAM
SOCS_box	274	312	2.8e0	SMART
low complexity region	329	338	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130194

SMART Domains

Protein: ENSMUSP00000119896
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	17	30	N/A	INTRINSIC
low complexity region	38	49	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144430

SMART Domains

Protein: ENSMUSP00000117226
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	43	58	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168265

SMART Domains

Protein: ENSMUSP00000126878
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	29	42	N/A	INTRINSIC
low complexity region	55	69	N/A	INTRINSIC
low complexity region	145	156	N/A	INTRINSIC
low complexity region	163	176	N/A	INTRINSIC
low complexity region	184	195	N/A	INTRINSIC
low complexity region	244	255	N/A	INTRINSIC
Pfam:SPRY	294	416	5.8e-20	PFAM
SOCS_box	420	458	2.8e0	SMART
low complexity region	475	484	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.6%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adenosine triphosphate (ATP) and metal-binding protein that is required for the assembly of cyotosolic iron-sulfur proteins. The encoded protein functions in a heterotetramer with nucleotide-binding protein 1 (NUBP1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	G	A	18: 61,876,432 (GRCm39)	T395M	probably damaging	Het
Akap8l	T	C	17: 32,557,783 (GRCm39)	N35D	probably damaging	Het
Atr	T	A	9: 95,756,887 (GRCm39)	L922Q	probably damaging	Het
B3gnt9	G	T	8: 105,981,129 (GRCm39)	F86L	probably damaging	Het
Bmp1	T	C	14: 70,715,360 (GRCm39)	D925G	probably damaging	Het
Camkmt	A	T	17: 85,759,713 (GRCm39)	R284S	probably benign	Het
Cavin3	G	T	7: 105,131,304 (GRCm39)	H21Q	probably damaging	Het
Ccp110	A	G	7: 118,334,553 (GRCm39)	H180R		Het
Cdh23	A	T	10: 60,167,135 (GRCm39)	V1837E	probably damaging	Het
Ces3b	G	T	8: 105,812,257 (GRCm39)	A169S	probably damaging	Het
Chpt1	T	C	10: 88,325,499 (GRCm39)	N122S	probably benign	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Ctbp2	C	G	7: 132,615,933 (GRCm39)	R334P	probably damaging	Het
Cwh43	T	C	5: 73,572,340 (GRCm39)	S193P	probably benign	Het
Dcstamp	A	T	15: 39,623,792 (GRCm39)	D469V	probably benign	Het
Dst	T	A	1: 34,219,458 (GRCm39)	I1966N	probably benign	Het
Eif3i	G	T	4: 129,489,094 (GRCm39)	F121L	probably benign	Het
Erbb2	T	C	11: 98,326,812 (GRCm39)	S1074P	probably damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fbn2	A	G	18: 58,146,722 (GRCm39)		probably null	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Gm2a	T	C	11: 54,999,764 (GRCm39)	V95A	probably benign	Het
Gp5	A	C	16: 30,128,393 (GRCm39)	F94V	probably damaging	Het
Gramd4	G	A	15: 86,016,160 (GRCm39)	E504K	probably damaging	Het
Gusb	A	G	5: 130,026,652 (GRCm39)	S450P	probably damaging	Het
Htr5a	A	G	5: 28,047,838 (GRCm39)	N131S	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
Katnbl1	T	A	2: 112,239,497 (GRCm39)	V232D	probably damaging	Het
Kifap3	T	C	1: 163,689,657 (GRCm39)	L547P	probably damaging	Het
Krt6a	C	T	15: 101,599,120 (GRCm39)	V482M	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
Mical2	G	T	7: 111,945,996 (GRCm39)	R986L	probably damaging	Het
Mroh8	G	A	2: 157,094,970 (GRCm39)	Q339*	probably null	Het
Msln	A	T	17: 25,968,042 (GRCm39)	V541E	probably damaging	Het
Muc16	T	A	9: 18,498,178 (GRCm39)	M6590L	probably benign	Het
Nhsl3	T	C	4: 129,117,962 (GRCm39)	E279G	possibly damaging	Het
Nisch	A	T	14: 30,893,628 (GRCm39)	V1315E	probably damaging	Het
Oog3	T	G	4: 143,884,489 (GRCm39)	R482S	probably benign	Het
Or2a7	A	G	6: 43,150,991 (GRCm39)	M24V	probably benign	Het
Or56a42-ps1	A	T	7: 104,775,985 (GRCm39)	N164K	probably benign	Het
Or6c33	T	C	10: 129,853,809 (GRCm39)	I193T	possibly damaging	Het
Or7a41	T	C	10: 78,871,230 (GRCm39)	I200T	probably benign	Het
Or8k39	A	T	2: 86,563,636 (GRCm39)	F107I	probably damaging	Het
P3h4	A	T	11: 100,304,499 (GRCm39)	C247*	probably null	Het
Pakap	G	A	4: 57,710,125 (GRCm39)	A357T	possibly damaging	Het
Plch2	T	A	4: 155,082,942 (GRCm39)	M569L	probably benign	Het
Plcl1	A	G	1: 55,735,450 (GRCm39)	T264A	probably benign	Het
Rad51ap1	G	T	6: 126,904,526 (GRCm39)	N178K	probably benign	Het
Rasa4	T	C	5: 136,130,494 (GRCm39)	L340P	probably damaging	Het
Rassf10	A	G	7: 112,554,784 (GRCm39)	T462A	probably benign	Het
Rlf	G	C	4: 121,007,865 (GRCm39)	L482V	probably damaging	Het
Robo1	T	G	16: 72,821,330 (GRCm39)	S1357A	possibly damaging	Het
Rp1l1	T	C	14: 64,269,714 (GRCm39)	S1767P	probably damaging	Het
Rpl3l	T	A	17: 24,947,328 (GRCm39)	L14Q	probably damaging	Het
Ryr3	T	A	2: 112,635,047 (GRCm39)	T2024S	possibly damaging	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Sema6a	T	C	18: 47,382,252 (GRCm39)	Q765R	probably damaging	Het
Senp6	T	A	9: 80,021,228 (GRCm39)	Y303N	probably damaging	Het
Sertad4	C	T	1: 192,528,836 (GRCm39)	D327N	probably damaging	Het
Slc22a15	T	A	3: 101,790,848 (GRCm39)	Y219F	possibly damaging	Het
Slco1b2	T	G	6: 141,594,358 (GRCm39)		probably null	Het
Snrnp200	G	T	2: 127,067,959 (GRCm39)	V819L	probably damaging	Het
Ssb	C	A	2: 69,700,784 (GRCm39)	A288E	probably damaging	Het
Syne2	A	G	12: 76,101,620 (GRCm39)	H638R	probably benign	Het
Tm7sf3	A	G	6: 146,527,698 (GRCm39)	S43P	probably benign	Het
Tmem200c	A	G	17: 69,149,181 (GRCm39)	H588R	probably benign	Het
Tnpo3	G	A	6: 29,560,173 (GRCm39)	R657*	probably null	Het
Traf6	T	C	2: 101,518,927 (GRCm39)	C139R	probably damaging	Het
Txnrd1	C	A	10: 82,720,390 (GRCm39)	N424K	possibly damaging	Het
Ubqln3	T	C	7: 103,791,962 (GRCm39)	I43V	probably damaging	Het
Usp32	A	G	11: 84,921,317 (GRCm39)	V699A	probably damaging	Het
Vmn2r103	T	C	17: 20,014,027 (GRCm39)	V273A	probably benign	Het
Vmn2r8	A	G	5: 108,951,107 (GRCm39)	S113P	probably benign	Het
Wdr7	T	A	18: 63,860,826 (GRCm39)	I161N	probably damaging	Het
Zfp474	A	T	18: 52,772,015 (GRCm39)	I223F	probably damaging	Het
Zfp583	A	G	7: 6,320,328 (GRCm39)	L228P	probably damaging	Het
Zfyve27	A	G	19: 42,165,856 (GRCm39)	T76A	possibly damaging	Het

Other mutations in Nubp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02706:Nubp2	APN	17	25,102,171 (GRCm39)	missense	probably benign	0.06
R0238:Nubp2	UTSW	17	25,103,445 (GRCm39)	missense	probably damaging	1.00
R0238:Nubp2	UTSW	17	25,103,445 (GRCm39)	missense	probably damaging	1.00
R0239:Nubp2	UTSW	17	25,103,445 (GRCm39)	missense	probably damaging	1.00
R0239:Nubp2	UTSW	17	25,103,445 (GRCm39)	missense	probably damaging	1.00
R1329:Nubp2	UTSW	17	25,102,838 (GRCm39)	missense	possibly damaging	0.91
R1528:Nubp2	UTSW	17	25,103,388 (GRCm39)	missense	probably damaging	1.00
R4270:Nubp2	UTSW	17	25,104,567 (GRCm39)	missense	probably damaging	1.00
R4860:Nubp2	UTSW	17	25,103,430 (GRCm39)	missense	probably benign
R4860:Nubp2	UTSW	17	25,103,430 (GRCm39)	missense	probably benign
R5799:Nubp2	UTSW	17	25,104,772 (GRCm39)	missense	probably damaging	0.96
R6495:Nubp2	UTSW	17	25,104,577 (GRCm39)	missense	probably damaging	1.00
R8400:Nubp2	UTSW	17	25,103,439 (GRCm39)	missense	probably damaging	0.96
R9250:Nubp2	UTSW	17	25,103,373 (GRCm39)	critical splice donor site	probably null
R9396:Nubp2	UTSW	17	25,103,476 (GRCm39)	missense	probably benign	0.00
R9626:Nubp2	UTSW	17	25,103,374 (GRCm39)	critical splice donor site	probably null
R9651:Nubp2	UTSW	17	25,103,382 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTACAGAAGGTCAGCTCCC -3'
(R):5'- TCTCAGGGATTACTGCTGGG -3'

Sequencing Primer
(F):5'- AAGGTCAGCTCCCGCCTC -3'
(R):5'- GCTTTGGGGTCTTTGCAGCAC -3'

Posted On

2022-11-14