Mutagenetix > Incidental Mutation

Incidental Mutation 'R0544:Noc4l'

44672

Institutional Source

Beutler Lab

Gene Symbol

Noc4l

Ensembl Gene

ENSMUSG00000033294

Gene Name

NOC4 like

Synonyms

MMRRC Submission

038736-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R0544 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110796285-110801248 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110798989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 231 (V231A)

Ref Sequence

ENSEMBL: ENSMUSP00000038263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031478] [ENSMUST00000042147]

AlphaFold

Q8BHY2

Predicted Effect

probably benign
Transcript: ENSMUST00000031478

SMART Domains

Protein: ENSMUSP00000031478
Gene: ENSMUSG00000029504

Domain	Start	End	E-Value	Type
low complexity region	50	75	N/A	INTRINSIC
DEXDc	189	442	4.04e-40	SMART
HELICc	491	573	2.86e-22	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042147
AA Change: V231A

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038263
Gene: ENSMUSG00000033294
AA Change: V231A

Domain	Start	End	E-Value	Type
Pfam:CBF	305	453	2.7e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123380

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124612

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136442

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136629

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145712

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199795

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150100

Meta Mutation Damage Score

0.7364

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (97/99)

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	A	T	14: 70,394,763 (GRCm39)	F130L	probably benign	Het
Aatf	C	T	11: 84,313,831 (GRCm39)	R511Q	probably benign	Het
Acot12	A	T	13: 91,932,775 (GRCm39)	D516V	probably benign	Het
Adgrb2	T	C	4: 129,911,335 (GRCm39)	V1207A	probably damaging	Het
Akap9	A	G	5: 4,119,185 (GRCm39)	D3564G	probably benign	Het
Arl8b	C	T	6: 108,760,189 (GRCm39)		probably benign	Het
Atf6b	T	C	17: 34,867,273 (GRCm39)		probably null	Het
Atrn	G	A	2: 130,828,746 (GRCm39)	G1097D	probably damaging	Het
Btbd6	A	G	12: 112,940,702 (GRCm39)	E61G	probably damaging	Het
Car15	A	G	16: 17,653,680 (GRCm39)		probably benign	Het
Car5b	G	A	X: 162,762,297 (GRCm39)	R282C	probably damaging	Het
Carmil2	C	T	8: 106,417,867 (GRCm39)	A654V	probably damaging	Het
Ccdc88b	A	G	19: 6,834,634 (GRCm39)	L124P	probably damaging	Het
Ccnd1	A	G	7: 144,491,023 (GRCm39)		probably benign	Het
Cenph	A	G	13: 100,909,249 (GRCm39)	S53P	probably damaging	Het
Chrm3	T	A	13: 9,927,615 (GRCm39)	I474F	probably damaging	Het
Cln8	T	A	8: 14,946,769 (GRCm39)	V261E	probably benign	Het
Coa6	A	G	8: 127,149,499 (GRCm39)	D25G	probably benign	Het
Col4a1	T	G	8: 11,276,487 (GRCm39)		probably benign	Het
Cpxm1	T	C	2: 130,235,055 (GRCm39)	H588R	probably damaging	Het
Cul7	T	C	17: 46,974,470 (GRCm39)	L1516P	possibly damaging	Het
Dcdc5	A	G	2: 106,181,909 (GRCm39)		noncoding transcript	Het
Ddx5	T	C	11: 106,673,288 (GRCm39)		probably benign	Het
Dhx16	C	A	17: 36,192,551 (GRCm39)	P161Q	probably benign	Het
Dpy19l1	A	T	9: 24,396,406 (GRCm39)		probably benign	Het
Fastkd5	A	G	2: 130,457,216 (GRCm39)	V458A	probably damaging	Het
Fhit	A	G	14: 9,870,172 (GRCm38)	V99A	probably damaging	Het
Fndc3a	A	T	14: 72,795,062 (GRCm39)		probably benign	Het
Foxd4	A	T	19: 24,877,182 (GRCm39)	S339R	possibly damaging	Het
Gm10842	T	A	11: 105,037,880 (GRCm39)	D54E	unknown	Het
Gns	T	A	10: 121,212,172 (GRCm39)	Y94*	probably null	Het
Gp2	A	G	7: 119,053,719 (GRCm39)	W81R	probably benign	Het
Hdac5	T	G	11: 102,086,922 (GRCm39)	Q46P	probably damaging	Het
Homer2	A	C	7: 81,299,426 (GRCm39)	V13G	probably damaging	Het
Irs3	A	G	5: 137,642,101 (GRCm39)	S446P	probably benign	Het
Ism2	G	T	12: 87,332,113 (GRCm39)	D141E	probably damaging	Het
Jak1	T	A	4: 101,048,822 (GRCm39)	M19L	probably benign	Het
Kcnd3	C	A	3: 105,566,075 (GRCm39)	R419S	probably damaging	Het
Lamb1	T	C	12: 31,332,694 (GRCm39)	F272S	probably damaging	Het
Ldlrad2	T	G	4: 137,299,579 (GRCm39)	T82P	possibly damaging	Het
Lrp2	T	C	2: 69,322,275 (GRCm39)	K1885E	probably benign	Het
Mbd5	T	C	2: 49,147,221 (GRCm39)	V477A	possibly damaging	Het
Mrps33	A	T	6: 39,782,488 (GRCm39)	M11K	possibly damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Myom2	T	A	8: 15,119,796 (GRCm39)	V184E	probably damaging	Het
Ncor1	C	A	11: 62,224,602 (GRCm39)	G1210V	probably damaging	Het
Ncor1	C	T	11: 62,224,603 (GRCm39)	G1210R	probably damaging	Het
Nlrp4a	A	G	7: 26,156,555 (GRCm39)	D760G	probably benign	Het
Or2at1	T	C	7: 99,416,867 (GRCm39)	I166T	probably benign	Het
Or4c112	T	C	2: 88,854,170 (GRCm39)	Y59C	probably damaging	Het
Or4f14	A	T	2: 111,742,905 (GRCm39)	Y123*	probably null	Het
Or4n4b	A	T	14: 50,536,139 (GRCm39)	V209E	probably benign	Het
Or52ab7	T	A	7: 102,977,858 (GRCm39)	I55N	probably damaging	Het
Or5b98	A	G	19: 12,931,066 (GRCm39)	T38A	possibly damaging	Het
Or5h25	T	A	16: 58,930,588 (GRCm39)	K128N	probably benign	Het
Or8k23	T	C	2: 86,186,007 (GRCm39)	T240A	probably damaging	Het
Padi4	GCTGCGTACCTCCAC	GC	4: 140,475,760 (GRCm39)		probably benign	Het
Patj	T	A	4: 98,457,347 (GRCm39)	M1283K	probably damaging	Het
Pkd1	C	T	17: 24,804,657 (GRCm39)	T790I	probably damaging	Het
Plod3	C	A	5: 137,020,465 (GRCm39)	T526K	probably benign	Het
Plxnb2	C	A	15: 89,042,816 (GRCm39)		probably benign	Het
Polr1g	G	T	7: 19,093,066 (GRCm39)	P38Q	probably damaging	Het
Pramel1	T	A	4: 143,124,175 (GRCm39)	D283E	possibly damaging	Het
Prpf40a	T	C	2: 53,031,663 (GRCm39)		probably benign	Het
Psg23	A	T	7: 18,348,607 (GRCm39)	Y67N	probably damaging	Het
Rftn1	T	A	17: 50,301,289 (GRCm39)	Q242L	possibly damaging	Het
Rp1l1	A	T	14: 64,269,515 (GRCm39)	E1700D	probably benign	Het
Scube3	T	C	17: 28,383,127 (GRCm39)	F435S	probably damaging	Het
Sdk2	T	C	11: 113,671,836 (GRCm39)	Y2104C	probably damaging	Het
Septin11	A	G	5: 93,313,227 (GRCm39)	E358G	possibly damaging	Het
Sh3bp1	T	C	15: 78,789,975 (GRCm39)	L246P	probably damaging	Het
Sis	T	C	3: 72,858,975 (GRCm39)	Y352C	probably damaging	Het
Skint1	T	C	4: 111,878,562 (GRCm39)	S165P	probably damaging	Het
Skint10	C	T	4: 112,586,008 (GRCm39)		probably benign	Het
Slc1a2	A	T	2: 102,586,417 (GRCm39)	R340S	probably damaging	Het
Slc26a3	C	A	12: 31,497,739 (GRCm39)	Q48K	probably benign	Het
Slc5a2	A	T	7: 127,869,171 (GRCm39)	Y317F	probably damaging	Het
Sorbs3	T	A	14: 70,431,375 (GRCm39)	T262S	probably benign	Het
Tas2r118	G	T	6: 23,969,400 (GRCm39)	S220R	probably damaging	Het
Terf2ip	C	A	8: 112,741,974 (GRCm39)	Q223K	possibly damaging	Het
Tespa1	A	G	10: 130,196,680 (GRCm39)	Q206R	probably damaging	Het
Tex10	T	C	4: 48,462,766 (GRCm39)		probably null	Het
Tle1	T	A	4: 72,043,227 (GRCm39)	K547N	probably damaging	Het
Tmem131l	T	A	3: 83,805,853 (GRCm39)	Q1530L	probably damaging	Het
Tomm20l	A	G	12: 71,169,851 (GRCm39)	E145G	possibly damaging	Het
Tra2a	C	T	6: 49,227,885 (GRCm39)		probably benign	Het
Trim32	G	A	4: 65,531,491 (GRCm39)	R16Q	probably damaging	Het
Trim37	T	A	11: 87,036,328 (GRCm39)	Y121*	probably null	Het
Tube1	C	T	10: 39,016,941 (GRCm39)		probably null	Het
Usp6nl	T	A	2: 6,425,820 (GRCm39)	V187D	probably damaging	Het
Vmn1r13	T	C	6: 57,187,248 (GRCm39)	F136L	probably benign	Het
Vmn1r201	A	T	13: 22,659,316 (GRCm39)	I177F	probably benign	Het
Vmn1r203	A	T	13: 22,708,443 (GRCm39)	T75S	possibly damaging	Het
Vmn1r225	C	T	17: 20,722,718 (GRCm39)	S53L	probably benign	Het
Xab2	A	T	8: 3,660,994 (GRCm39)	W707R	probably damaging	Het
Zfp808	T	C	13: 62,317,248 (GRCm39)		probably benign	Het
Zng1	A	G	19: 24,926,575 (GRCm39)	Y159H	possibly damaging	Het

Other mutations in Noc4l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01483:Noc4l	APN	5	110,796,824 (GRCm39)	missense	probably damaging	0.99
IGL02249:Noc4l	APN	5	110,801,081 (GRCm39)	unclassified	probably benign
wood	UTSW	5	110,796,758 (GRCm39)	missense	possibly damaging	0.94
PIT4280001:Noc4l	UTSW	5	110,799,305 (GRCm39)	missense	probably benign	0.38
R0326:Noc4l	UTSW	5	110,800,241 (GRCm39)	nonsense	probably null
R1196:Noc4l	UTSW	5	110,798,450 (GRCm39)	missense	probably damaging	0.97
R1496:Noc4l	UTSW	5	110,797,944 (GRCm39)	missense	probably damaging	1.00
R1587:Noc4l	UTSW	5	110,800,889 (GRCm39)	missense	probably benign
R1699:Noc4l	UTSW	5	110,797,713 (GRCm39)	nonsense	probably null
R2113:Noc4l	UTSW	5	110,798,425 (GRCm39)	missense	possibly damaging	0.88
R2874:Noc4l	UTSW	5	110,796,969 (GRCm39)	missense	probably benign	0.00
R4080:Noc4l	UTSW	5	110,797,738 (GRCm39)	missense	probably benign	0.01
R5097:Noc4l	UTSW	5	110,799,212 (GRCm39)	missense	probably benign
R5875:Noc4l	UTSW	5	110,799,176 (GRCm39)	critical splice donor site	probably null
R6903:Noc4l	UTSW	5	110,797,461 (GRCm39)	missense	probably damaging	1.00
R7328:Noc4l	UTSW	5	110,796,789 (GRCm39)	missense	possibly damaging	0.89
R7816:Noc4l	UTSW	5	110,797,539 (GRCm39)	missense	probably benign	0.44
R8379:Noc4l	UTSW	5	110,798,828 (GRCm39)	missense	probably damaging	1.00
R8770:Noc4l	UTSW	5	110,796,758 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGAACGACCTTCCACTTGTCTGATG -3'
(R):5'- TCTCCTTGACCATGCTAGGACCAC -3'

Sequencing Primer
(F):5'- TCCACTTGTCTGATGTCTCTG -3'
(R):5'- CACTCTGTGAGACAAGGTCATTC -3'

Posted On

2013-06-11