Mutagenetix > Incidental Mutation

Incidental Mutation 'R7528:Nsun4'

583114

Institutional Source

Beutler Lab

Gene Symbol

Nsun4

Ensembl Gene

ENSMUSG00000028706

Gene Name

NOL1/NOP2/Sun domain family, member 4

Synonyms

2810405F18Rik, 2310010O12Rik

MMRRC Submission

045600-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.430) question?

Stock #

R7528 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115890202-115911076 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 115891391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 329 (Y329*)

Ref Sequence

ENSEMBL: ENSMUSP00000030475 (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 null
Transcript: ENSMUST00000030475
AA Change: Y329*

SMART Domains

Protein: ENSMUSP00000030475
Gene: ENSMUSG00000028706
AA Change: Y329*

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

probably benign
Transcript: ENSMUST00000165493

SMART Domains

Protein: ENSMUSP00000130430
Gene: ENSMUSG00000028706

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

0.9712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,767,317 (GRCm39)	E920G	probably damaging	Het
Acss2	A	C	2: 155,399,066 (GRCm39)	N443H	probably damaging	Het
Adam3	C	A	8: 25,167,279 (GRCm39)	A71S	unknown	Het
Agpat3	A	G	10: 78,123,746 (GRCm39)	L38P	probably damaging	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Amtn	C	A	5: 88,526,711 (GRCm39)		probably null	Het
App	T	G	16: 84,775,146 (GRCm39)	Y497S	possibly damaging	Het
Bphl	T	A	13: 34,244,473 (GRCm39)	Y197N	probably damaging	Het
Btrc	T	A	19: 45,491,525 (GRCm39)	M160K	possibly damaging	Het
Ccdc181	A	C	1: 164,107,527 (GRCm39)	N70T	probably benign	Het
Cd55b	T	C	1: 130,347,473 (GRCm39)	N113D	possibly damaging	Het
Ctrb1	T	A	8: 112,413,783 (GRCm39)	I194F	probably benign	Het
Dnah2	T	C	11: 69,391,622 (GRCm39)	H691R	probably damaging	Het
Dnajc13	A	G	9: 104,056,164 (GRCm39)	V1579A	possibly damaging	Het
Dst	T	A	1: 34,333,603 (GRCm39)	F5030I	probably damaging	Het
Eppk1	G	A	15: 76,004,308 (GRCm39)		probably benign	Het
Fbxw4	T	C	19: 45,648,449 (GRCm39)	E7G	unknown	Het
Fos	T	A	12: 85,522,432 (GRCm39)	C154S	probably damaging	Het
Foxh1	A	G	15: 76,553,511 (GRCm39)	V97A	probably benign	Het
Gmeb1	G	A	4: 131,959,361 (GRCm39)	T231I	possibly damaging	Het
Golga3	T	A	5: 110,360,098 (GRCm39)	V1112E	probably damaging	Het
Gprin3	T	C	6: 59,331,017 (GRCm39)	D430G	possibly damaging	Het
Hpse2	T	C	19: 42,801,463 (GRCm39)	D441G	probably damaging	Het
Hydin	G	A	8: 111,107,204 (GRCm39)	W460*	probably null	Het
Ifi204	T	C	1: 173,579,406 (GRCm39)	I480V	probably benign	Het
Impg2	T	C	16: 56,080,743 (GRCm39)	V849A	possibly damaging	Het
Kars1	T	C	8: 112,737,866 (GRCm39)	D12G	probably benign	Het
Klhdc7a	A	T	4: 139,694,828 (GRCm39)	Y40N	probably damaging	Het
Krtap5-3	T	C	7: 141,755,219 (GRCm39)	C19R	unknown	Het
Macf1	G	A	4: 123,325,852 (GRCm39)	A5217V	possibly damaging	Het
Mlc1	A	T	15: 88,858,710 (GRCm39)	I146N	possibly damaging	Het
Myo3a	A	T	2: 22,270,925 (GRCm39)	R129*	probably null	Het
Or4k1	A	G	14: 50,377,277 (GRCm39)	V273A	possibly damaging	Het
Or56a3b	T	C	7: 104,771,071 (GRCm39)	Y136H	probably damaging	Het
Pard3	G	A	8: 128,329,646 (GRCm39)	R1214H	probably damaging	Het
Phf20	T	A	2: 156,144,928 (GRCm39)	Y845*	probably null	Het
Pik3c2a	A	G	7: 115,993,474 (GRCm39)	I431T	probably damaging	Het
Plxna2	A	G	1: 194,494,464 (GRCm39)	S1894G	probably damaging	Het
Ppp1r7	C	T	1: 93,282,123 (GRCm39)	Q225*	probably null	Het
Ppp4r1	C	A	17: 66,120,493 (GRCm39)	T209K	probably damaging	Het
Prc1	T	C	7: 79,950,183 (GRCm39)		probably null	Het
Prex2	T	G	1: 11,274,316 (GRCm39)	D1329E	probably damaging	Het
Ptch1	C	T	13: 63,659,528 (GRCm39)	R1375H	probably benign	Het
Rab24	A	T	13: 55,468,921 (GRCm39)	C87S	probably damaging	Het
Rnf43	A	T	11: 87,622,954 (GRCm39)	Y558F	probably benign	Het
Serpinb6e	T	C	13: 34,016,474 (GRCm39)	I420V	possibly damaging	Het
Slain2	C	A	5: 73,072,143 (GRCm39)	S59*	probably null	Het
Slfn3	A	G	11: 83,105,731 (GRCm39)	D576G	probably benign	Het
Sptbn4	A	G	7: 27,141,960 (GRCm39)	M11T	probably benign	Het
Tdh	T	C	14: 63,731,460 (GRCm39)	D238G	probably damaging	Het
Top2b	T	A	14: 16,395,427 (GRCm38)	Y337*	probably null	Het
Trav15-2-dv6-2	A	C	14: 53,887,308 (GRCm39)	Y76S	probably benign	Het
Vmn1r172	G	T	7: 23,359,189 (GRCm39)	G25C	probably damaging	Het
Vmn2r60	AG	A	7: 41,845,158 (GRCm39)		probably null	Het
Vps13d	T	C	4: 144,818,492 (GRCm39)	E3125G		Het
Xkr6	G	T	14: 64,056,610 (GRCm39)	V430F	probably benign	Het
Zfp142	T	C	1: 74,610,061 (GRCm39)	T1245A	probably benign	Het
Zfp960	C	T	17: 17,307,825 (GRCm39)	H180Y	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
R0306:Nsun4	UTSW	4	115,910,019 (GRCm39)	nonsense	probably null
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
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'- TTGGGATACACCTGCCACTAG -3'
(R):5'- TTGCTCTCACCCTTCCGAGAAG -3'

Sequencing Primer
(F):5'- CACTAGCCTCAGTTTCAATGGAG -3'
(R):5'- TCTCACCCTTCCGAGAAGTATACTAG -3'

Posted On

2019-10-17