Mutagenetix > Incidental Mutation

Incidental Mutation 'R0306:Nsun4'

35792

Institutional Source

Beutler Lab

Gene Symbol

Nsun4

Ensembl Gene

ENSMUSG00000028706

Gene Name

NOL1/NOP2/Sun domain family, member 4

Synonyms

2810405F18Rik, 2310010O12Rik

MMRRC Submission

038517-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.511) question?

Stock #

R0306 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

115890202-115911076 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 115910019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 180 (Y180*)

Ref Sequence

ENSEMBL: ENSMUSP00000130430 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030474] [ENSMUST00000030475] [ENSMUST00000165493]

AlphaFold

C4P6S0

Predicted Effect

probably benign
Transcript: ENSMUST00000030474

SMART Domains

Protein: ENSMUSP00000030474
Gene: ENSMUSG00000028706

Domain	Start	End	E-Value	Type
Pfam:Nol1_Nop2_Fmu	28	199	3.9e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000030475

SMART Domains

Protein: ENSMUSP00000030475
Gene: ENSMUSG00000028706

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
Pfam:Nol1_Nop2_Fmu	163	356	9.7e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152712

Predicted Effect

probably null
Transcript: ENSMUST00000165493
AA Change: Y180*

SMART Domains

Protein: ENSMUSP00000130430
Gene: ENSMUSG00000028706
AA Change: Y180*

Domain	Start	End	E-Value	Type
low complexity region	91	124	N/A	INTRINSIC
low complexity region	277	290	N/A	INTRINSIC
low complexity region	476	490	N/A	INTRINSIC
low complexity region	553	565	N/A	INTRINSIC
low complexity region	572	596	N/A	INTRINSIC
low complexity region	677	700	N/A	INTRINSIC
low complexity region	710	723	N/A	INTRINSIC
low complexity region	733	756	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

94% (61/65)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l1	T	C	6: 48,953,020 (GRCm39)	V315A	probably damaging	Het
BC028528	C	T	3: 95,797,132 (GRCm39)		probably benign	Het
Bspry	T	C	4: 62,414,394 (GRCm39)	F329S	probably damaging	Het
Cd209a	A	G	8: 3,795,535 (GRCm39)	Y120H	probably benign	Het
Ces1f	T	C	8: 94,003,172 (GRCm39)		probably benign	Het
Cfap52	T	C	11: 67,844,896 (GRCm39)	N58D	probably benign	Het
Cfap74	G	A	4: 155,549,896 (GRCm39)		probably benign	Het
Chst8	T	C	7: 34,374,723 (GRCm39)	E372G	probably benign	Het
Cplane1	T	C	15: 8,209,373 (GRCm39)	V270A	probably damaging	Het
Ddx49	A	G	8: 70,747,322 (GRCm39)		probably benign	Het
Ddx52	G	T	11: 83,835,474 (GRCm39)	L133F	probably benign	Het
Defb26	T	A	2: 152,349,888 (GRCm39)	I131F	unknown	Het
Dip2c	T	A	13: 9,654,635 (GRCm39)	S719T	probably benign	Het
Dnmt3a	A	G	12: 3,916,096 (GRCm39)	S94G	possibly damaging	Het
Dytn	G	A	1: 63,724,272 (GRCm39)	P3S	possibly damaging	Het
Fmn2	T	C	1: 174,437,050 (GRCm39)		probably benign	Het
Gal3st1	T	A	11: 3,948,546 (GRCm39)	L251Q	probably damaging	Het
Gm19684	A	T	17: 36,438,300 (GRCm39)		probably benign	Het
Il15	T	A	8: 83,061,083 (GRCm39)		probably benign	Het
Jag1	C	T	2: 136,927,855 (GRCm39)	G852D	probably damaging	Het
Kbtbd4	A	G	2: 90,744,530 (GRCm39)		probably benign	Het
Kdm3b	C	A	18: 34,937,070 (GRCm39)	Q451K	probably benign	Het
Lrfn2	A	T	17: 49,403,283 (GRCm39)	I469F	probably damaging	Het
Mep1a	A	T	17: 43,813,534 (GRCm39)		probably benign	Het
Morn5	T	C	2: 35,944,986 (GRCm39)	F70S	probably damaging	Het
Nav2	C	A	7: 49,195,651 (GRCm39)	P1009Q	probably benign	Het
Noc3l	T	C	19: 38,796,094 (GRCm39)	Y334C	probably damaging	Het
Nup210l	T	C	3: 90,114,675 (GRCm39)	I1750T	probably benign	Het
Or51s1	A	T	7: 102,559,010 (GRCm39)	I12N	probably benign	Het
Or5p53	A	T	7: 107,532,907 (GRCm39)	Y60F	probably damaging	Het
Or8u9	T	A	2: 86,002,060 (GRCm39)	I34F	possibly damaging	Het
Parp14	A	G	16: 35,676,944 (GRCm39)	L1008P	probably benign	Het
Paxbp1	A	G	16: 90,819,003 (GRCm39)	V759A	possibly damaging	Het
Prdm10	C	A	9: 31,227,520 (GRCm39)	Q42K	probably damaging	Het
Prkcsh	T	C	9: 21,917,822 (GRCm39)		probably benign	Het
Psmg1	A	G	16: 95,788,540 (GRCm39)	C138R	probably damaging	Het
Ptprb	T	C	10: 116,179,893 (GRCm39)	M1437T	probably benign	Het
Ryr3	A	G	2: 112,606,000 (GRCm39)		probably null	Het
Serpinf1	T	C	11: 75,304,761 (GRCm39)	Y200C	probably damaging	Het
Shox2	T	C	3: 66,881,167 (GRCm39)	H130R	probably damaging	Het
Slc22a1	A	G	17: 12,881,485 (GRCm39)	F335L	probably benign	Het
Slc44a5	A	G	3: 153,975,638 (GRCm39)	N683S	probably damaging	Het
Slc9a9	A	T	9: 95,019,987 (GRCm39)	T519S	probably benign	Het
Smarca2	T	A	19: 26,618,013 (GRCm39)	L348Q	probably damaging	Het
Sorbs1	T	C	19: 40,332,855 (GRCm39)	D521G	possibly damaging	Het
Sorbs2	A	T	8: 46,248,767 (GRCm39)	T593S	probably benign	Het
Srp19	T	C	18: 34,467,629 (GRCm39)		probably benign	Het
Stk35	T	A	2: 129,643,683 (GRCm39)	Y222*	probably null	Het
Syt10	T	G	15: 89,711,191 (GRCm39)	K114T	probably benign	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Trpc4ap	A	G	2: 155,478,180 (GRCm39)	V662A	probably benign	Het
Ttll4	G	A	1: 74,735,916 (GRCm39)	R1066Q	probably benign	Het
Tulp2	C	T	7: 45,168,000 (GRCm39)		probably benign	Het
Unc5b	C	A	10: 60,615,437 (GRCm39)		probably benign	Het
Vmn1r230	T	A	17: 21,066,895 (GRCm39)	I28K	possibly damaging	Het
Vmn2r118	A	C	17: 55,915,616 (GRCm39)	F445V	possibly damaging	Het
Zfp142	C	T	1: 74,609,341 (GRCm39)	E1485K	probably damaging	Het
Zfp819	C	A	7: 43,266,621 (GRCm39)	A292E	possibly damaging	Het

Other mutations in Nsun4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB009:Nsun4	UTSW	4	115,901,997 (GRCm39)	missense	probably damaging	1.00
BB019:Nsun4	UTSW	4	115,901,997 (GRCm39)	missense	probably damaging	1.00
R0089:Nsun4	UTSW	4	115,892,970 (GRCm39)	missense	probably benign	0.01
R0365:Nsun4	UTSW	4	115,901,935 (GRCm39)	missense	probably damaging	1.00
R1440:Nsun4	UTSW	4	115,910,147 (GRCm39)	missense	possibly damaging	0.83
R1624:Nsun4	UTSW	4	115,891,397 (GRCm39)	missense	probably benign	0.05
R2058:Nsun4	UTSW	4	115,910,877 (GRCm39)	splice site	probably null
R2262:Nsun4	UTSW	4	115,910,147 (GRCm39)	missense	probably benign	0.27
R2438:Nsun4	UTSW	4	115,905,794 (GRCm39)	missense	probably benign	0.01
R3029:Nsun4	UTSW	4	115,909,922 (GRCm39)	missense	possibly damaging	0.83
R4012:Nsun4	UTSW	4	115,908,259 (GRCm39)	missense	possibly damaging	0.66
R4162:Nsun4	UTSW	4	115,891,391 (GRCm39)	nonsense	probably null
R4166:Nsun4	UTSW	4	115,891,248 (GRCm39)	missense	probably damaging	0.98
R4277:Nsun4	UTSW	4	115,891,479 (GRCm39)	missense	probably damaging	1.00
R4433:Nsun4	UTSW	4	115,897,327 (GRCm39)	missense	possibly damaging	0.75
R4450:Nsun4	UTSW	4	115,908,453 (GRCm39)	nonsense	probably null
R5077:Nsun4	UTSW	4	115,905,781 (GRCm39)	missense	probably benign	0.00
R5307:Nsun4	UTSW	4	115,891,335 (GRCm39)	missense	probably damaging	0.98
R5509:Nsun4	UTSW	4	115,908,974 (GRCm39)	missense	possibly damaging	0.46
R5510:Nsun4	UTSW	4	115,908,974 (GRCm39)	missense	possibly damaging	0.46
R6145:Nsun4	UTSW	4	115,897,403 (GRCm39)	missense	probably damaging	1.00
R6520:Nsun4	UTSW	4	115,901,935 (GRCm39)	missense	probably damaging	1.00
R6848:Nsun4	UTSW	4	115,910,131 (GRCm39)	missense	possibly damaging	0.90
R7346:Nsun4	UTSW	4	115,909,035 (GRCm39)	missense	probably benign	0.01
R7528:Nsun4	UTSW	4	115,891,391 (GRCm39)	nonsense	probably null
R7560:Nsun4	UTSW	4	115,908,691 (GRCm39)	missense	possibly damaging	0.92
R7719:Nsun4	UTSW	4	115,909,617 (GRCm39)	missense	possibly damaging	0.82
R7798:Nsun4	UTSW	4	115,908,371 (GRCm39)	missense	possibly damaging	0.83
R7868:Nsun4	UTSW	4	115,891,329 (GRCm39)	missense	probably benign
R7932:Nsun4	UTSW	4	115,901,997 (GRCm39)	missense	probably damaging	1.00
R8074:Nsun4	UTSW	4	115,908,631 (GRCm39)	missense	possibly damaging	0.92
R8109:Nsun4	UTSW	4	115,909,040 (GRCm39)	missense	probably benign	0.00
R9006:Nsun4	UTSW	4	115,897,316 (GRCm39)	missense	probably damaging	1.00
R9260:Nsun4	UTSW	4	115,902,007 (GRCm39)	missense	probably damaging	1.00
R9383:Nsun4	UTSW	4	115,891,473 (GRCm39)	missense	probably benign	0.02
R9592:Nsun4	UTSW	4	115,908,852 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- GGTGAAATTGCAAGGCCAGGTCTC -3'
(R):5'- GCCTTTCTCCAAATGCAGGCAAC -3'

Sequencing Primer
(F):5'- AGGTCTCAGGGGCCGATG -3'
(R):5'- GAGAGGTGCCCCTTTGAAC -3'

Posted On

2013-05-09