Mutagenetix > Incidental Mutation

Incidental Mutation 'R9286:Nudcd2'

703926

Institutional Source

Beutler Lab

Gene Symbol

Nudcd2

Ensembl Gene

ENSMUSG00000020328

Gene Name

NudC domain containing 2

Synonyms

2700047N05Rik, D11Ertd603e

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.338) question?

Stock #

R9286 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40624494-40630873 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40627403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 108 (Y108N)

Ref Sequence

ENSEMBL: ENSMUSP00000020578 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020578] [ENSMUST00000020579] [ENSMUST00000127382]

AlphaFold

Q9CQ48

PDB Structure

Crystal structure of NudC domain-containing protein 2 (13542905) from Mus musculus at 1.95 A resolution [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000020578
AA Change: Y108N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020578
Gene: ENSMUSG00000020328
AA Change: Y108N

Domain	Start	End	E-Value	Type
Pfam:CS	17	91	2.1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000020579

SMART Domains

Protein: ENSMUSP00000020579
Gene: ENSMUSG00000020330

Domain	Start	End	E-Value	Type
Pfam:HMMR_N	15	339	1.2e-136	PFAM
low complexity region	375	385	N/A	INTRINSIC
low complexity region	430	442	N/A	INTRINSIC
Blast:MA	452	578	7e-6	BLAST
Pfam:HMMR_C	636	789	4.3e-71	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000127382
AA Change: Y83N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123991
Gene: ENSMUSG00000020328
AA Change: Y83N

Domain	Start	End	E-Value	Type
Pfam:CS	17	84	4.9e-14	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	G	C	15: 91,058,827 (GRCm39)	P539R	possibly damaging	Het
Adgrl3	A	T	5: 81,794,413 (GRCm39)	D478V	probably benign	Het
Adgrv1	A	T	13: 81,594,520 (GRCm39)	Y4165N	probably damaging	Het
Ago2	A	G	15: 72,997,065 (GRCm39)	L326P	probably damaging	Het
Akap6	A	C	12: 53,119,254 (GRCm39)	K1107T	possibly damaging	Het
Ank2	C	T	3: 126,846,381 (GRCm39)	A205T	probably damaging	Het
Ankrd27	T	C	7: 35,326,869 (GRCm39)	V738A	probably benign	Het
Asb1	A	G	1: 91,480,150 (GRCm39)	K291R	probably benign	Het
Cacna1e	G	T	1: 154,288,845 (GRCm39)	P1847T	probably damaging	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Cps1	T	G	1: 67,198,030 (GRCm39)	M365R	probably damaging	Het
Ctc1	T	G	11: 68,917,180 (GRCm39)		probably null	Het
Cyp2b10	G	T	7: 25,616,391 (GRCm39)	G333C	probably damaging	Het
Cyp2d12	A	G	15: 82,443,403 (GRCm39)	E455G	probably damaging	Het
Daam2	A	T	17: 49,786,922 (GRCm39)	D539E	possibly damaging	Het
Dip2a	T	A	10: 76,138,096 (GRCm39)	Y370F	probably benign	Het
Dok5	G	A	2: 170,672,099 (GRCm39)	E134K	possibly damaging	Het
Dync2h1	C	T	9: 6,941,668 (GRCm39)	A4164T	probably benign	Het
Ecm2	A	G	13: 49,683,696 (GRCm39)	Y558C		Het
Eif3b	A	G	5: 140,411,064 (GRCm39)	I172V	probably benign	Het
Flnb	T	C	14: 7,873,414 (GRCm38)	F237L	probably damaging	Het
Gdpd4	A	G	7: 97,647,639 (GRCm39)	I429V	probably damaging	Het
Grik1	T	C	16: 87,848,315 (GRCm39)	Y151C		Het
Gys2	C	A	6: 142,376,037 (GRCm39)	V542L	possibly damaging	Het
Hmx1	A	G	5: 35,546,776 (GRCm39)	T106A	probably benign	Het
Il1rap	T	C	16: 26,517,604 (GRCm39)	V268A	possibly damaging	Het
Kansl3	T	C	1: 36,387,720 (GRCm39)	T543A	probably benign	Het
Kcnk1	T	A	8: 126,752,148 (GRCm39)		probably null	Het
Larp7	CCTTCTT	CCTT	3: 127,340,008 (GRCm39)		probably benign	Het
Llgl2	T	C	11: 115,740,844 (GRCm39)	F449L	probably damaging	Het
Lmod2	A	G	6: 24,603,712 (GRCm39)	E229G	probably damaging	Het
Loxl4	A	T	19: 42,586,047 (GRCm39)	V699E	possibly damaging	Het
Miga2	A	G	2: 30,273,609 (GRCm39)	D489G	probably benign	Het
Nlrp1b	T	A	11: 71,060,573 (GRCm39)	H748L	probably benign	Het
Or10g1	G	A	14: 52,648,075 (GRCm39)	R85*	probably null	Het
Or52b2	A	C	7: 104,985,971 (GRCm39)	C317W	probably damaging	Het
Or5b120	T	A	19: 13,479,791 (GRCm39)	I28N	possibly damaging	Het
Pcdhb17	T	A	18: 37,619,422 (GRCm39)	V404E	probably benign	Het
Pde4dip	T	C	3: 97,607,183 (GRCm39)	D2084G	probably damaging	Het
Phf20	A	T	2: 156,134,470 (GRCm39)	K552M	probably damaging	Het
Plcg2	A	G	8: 118,331,976 (GRCm39)	D854G	probably benign	Het
Psen1	A	G	12: 83,775,549 (GRCm39)	N316D	probably benign	Het
Rabgap1l	G	A	1: 160,051,818 (GRCm39)	Q361*	probably null	Het
Ralb	A	T	1: 119,399,544 (GRCm39)	D171E	probably benign	Het
Rev3l	T	C	10: 39,682,947 (GRCm39)	I355T	possibly damaging	Het
Rttn	A	G	18: 88,995,849 (GRCm39)	K211E	probably benign	Het
Scg2	A	G	1: 79,413,653 (GRCm39)	S357P	probably damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Slc17a5	A	T	9: 78,445,566 (GRCm39)	W456R	probably damaging	Het
Slf1	A	T	13: 77,191,932 (GRCm39)	D967E	probably damaging	Het
Spryd3	A	T	15: 102,041,869 (GRCm39)	V51E	possibly damaging	Het
Tgfbi	A	G	13: 56,773,563 (GRCm39)	H187R	probably damaging	Het
Tmc3	A	G	7: 83,252,643 (GRCm39)	E348G	probably damaging	Het
Tmem45a2	A	G	16: 56,867,332 (GRCm39)	I123T	probably damaging	Het
Tonsl	G	A	15: 76,515,213 (GRCm39)	H1058Y	probably damaging	Het
Trav13d-1	A	G	14: 53,089,050 (GRCm39)	K20E	probably benign	Het
Trpm2	C	A	10: 77,777,014 (GRCm39)	V428L	probably benign	Het
Usp25	A	G	16: 76,904,864 (GRCm39)	Y810C	probably damaging	Het
Vmn1r40	T	A	6: 89,692,079 (GRCm39)	F299I	probably benign	Het
Vmn2r18	A	G	5: 151,499,175 (GRCm39)	F430L	probably benign	Het
Vps13c	G	A	9: 67,880,203 (GRCm39)	V3462I	probably benign	Het
Zfp955b	T	C	17: 33,521,683 (GRCm39)	I384T	probably benign	Het
Zmym4	T	C	4: 126,783,812 (GRCm39)	D1138G	probably damaging	Het

Other mutations in Nudcd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Nudcd2	APN	11	40,627,413 (GRCm39)	missense	probably damaging	1.00
R1606:Nudcd2	UTSW	11	40,626,834 (GRCm39)	splice site	probably null
R1998:Nudcd2	UTSW	11	40,624,844 (GRCm39)	missense	probably damaging	1.00
R4115:Nudcd2	UTSW	11	40,627,434 (GRCm39)	missense	probably damaging	0.99
R7191:Nudcd2	UTSW	11	40,627,430 (GRCm39)	nonsense	probably null
R8151:Nudcd2	UTSW	11	40,624,529 (GRCm39)	unclassified	probably benign
R8474:Nudcd2	UTSW	11	40,624,850 (GRCm39)	nonsense	probably null
R8994:Nudcd2	UTSW	11	40,624,862 (GRCm39)	missense	probably damaging	1.00
R9261:Nudcd2	UTSW	11	40,630,026 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACGTGTTGAGAGCAATTGTC -3'
(R):5'- GCATCGGTCTTACAGAAATGCATAC -3'

Sequencing Primer
(F):5'- GCGGTTAAGAGCACTGACTACTC -3'
(R):5'- TGCATACATTTGTGAAATTTGAAACC -3'

Posted On

2022-03-25