Mutagenetix > Incidental Mutation

Incidental Mutation 'R7346:Nsun4'

570189

Institutional Source

Beutler Lab

Gene Symbol

Nsun4

Ensembl Gene

ENSMUSG00000028706

Gene Name

NOL1/NOP2/Sun domain family, member 4

Synonyms

2810405F18Rik, 2310010O12Rik

MMRRC Submission

045373-MU

Accession Numbers

Essential gene?

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

Stock #

R7346 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115890202-115911076 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 115909035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 508 (M508I)

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

probably benign
Transcript: ENSMUST00000165493
AA Change: M508I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000130430
Gene: ENSMUSG00000028706
AA Change: M508I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.1%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	G	A	9: 55,914,587 (GRCm39)	P52S	unknown	Het
Adarb2	A	G	13: 8,620,420 (GRCm39)	E302G	probably damaging	Het
Adgrf5	T	A	17: 43,762,070 (GRCm39)	L1255H	probably damaging	Het
Adra1a	T	A	14: 66,875,733 (GRCm39)	I236N	probably benign	Het
As3mt	T	C	19: 46,708,891 (GRCm39)	F295S	probably damaging	Het
Bmp5	G	A	9: 75,780,642 (GRCm39)	R313Q	probably damaging	Het
Ccnj	T	A	19: 40,833,394 (GRCm39)	S191T	probably benign	Het
Clk2	T	A	3: 89,080,852 (GRCm39)		probably null	Het
Cpz	T	C	5: 35,675,000 (GRCm39)	E83G	probably damaging	Het
Cts3	A	G	13: 61,715,434 (GRCm39)	I133T	probably benign	Het
Dars2	C	T	1: 160,874,342 (GRCm39)		probably null	Het
Dsel	A	T	1: 111,788,798 (GRCm39)	V579D	probably damaging	Het
Dync1h1	C	A	12: 110,602,076 (GRCm39)	A2038E	probably damaging	Het
Eaf1	A	G	14: 31,216,777 (GRCm39)		probably benign	Het
Fsip2	A	C	2: 82,828,524 (GRCm39)	I6774L	probably benign	Het
Glis2	T	C	16: 4,431,432 (GRCm39)	F320L	possibly damaging	Het
Hcar1	A	G	5: 124,017,693 (GRCm39)		probably benign	Het
Hectd1	A	T	12: 51,797,104 (GRCm39)	H2211Q	probably benign	Het
Hmcn1	A	G	1: 150,559,496 (GRCm39)	I2385T	probably damaging	Het
Ifi44	T	A	3: 151,438,094 (GRCm39)	M398L	probably benign	Het
Il16	C	T	7: 83,293,249 (GRCm39)	E1273K	probably damaging	Het
Inpp5j	G	A	11: 3,451,065 (GRCm39)	T528I	probably damaging	Het
Kbtbd6	C	T	14: 79,690,627 (GRCm39)	P441S	probably damaging	Het
Kcnt1	C	T	2: 25,753,855 (GRCm39)		probably benign	Het
Kif26b	T	C	1: 178,358,306 (GRCm39)	L139P	probably damaging	Het
Klb	C	T	5: 65,505,974 (GRCm39)	Q74*	probably null	Het
L3mbtl1	G	A	2: 162,808,926 (GRCm39)	V600I	probably benign	Het
Lcp1	C	T	14: 75,447,946 (GRCm39)	A317V	possibly damaging	Het
Lipc	C	T	9: 70,720,029 (GRCm39)	G326D	probably damaging	Het
Mbnl2	T	A	14: 120,616,694 (GRCm39)	F103I	probably benign	Het
Mdm1	G	T	10: 118,000,193 (GRCm39)	E609*	probably null	Het
Med16	A	G	10: 79,744,650 (GRCm39)		probably null	Het
Mga	T	C	2: 119,766,008 (GRCm39)	V1424A	possibly damaging	Het
Mocs2	G	T	13: 114,964,710 (GRCm39)		probably null	Het
Morc1	C	T	16: 48,451,263 (GRCm39)		probably null	Het
Mpc2	T	A	1: 165,307,080 (GRCm39)	W94R	probably damaging	Het
Mrm3	G	A	11: 76,141,002 (GRCm39)	V337I	possibly damaging	Het
N4bp3	T	C	11: 51,536,433 (GRCm39)	H133R	probably benign	Het
Ncam2	G	T	16: 81,420,256 (GRCm39)	G810V	probably damaging	Het
Nipbl	T	C	15: 8,373,090 (GRCm39)	E1052G	possibly damaging	Het
Nlrp12	C	T	7: 3,297,887 (GRCm39)	V95M	probably damaging	Het
Nrip1	T	C	16: 76,090,244 (GRCm39)	N438D	possibly damaging	Het
Pla2g2c	T	C	4: 138,461,650 (GRCm39)	S40P	probably damaging	Het
Plec	A	G	15: 76,082,178 (GRCm39)		probably null	Het
Ppfia2	G	T	10: 106,693,356 (GRCm39)	M620I	possibly damaging	Het
Ppp6c	A	G	2: 39,116,229 (GRCm39)	Y9H	probably damaging	Het
Prkd1	A	T	12: 50,695,617 (GRCm39)	I47N	possibly damaging	Het
Prr14l	T	C	5: 32,988,028 (GRCm39)	D489G	probably benign	Het
Ptch2	T	A	4: 116,971,849 (GRCm39)	Y1124N	probably benign	Het
Ptpra	T	G	2: 130,395,320 (GRCm39)	Y808D	probably damaging	Het
Rint1	T	A	5: 24,020,651 (GRCm39)	F558Y	possibly damaging	Het
Rnf215	T	A	11: 4,089,792 (GRCm39)	C268*	probably null	Het
Slc25a13	T	C	6: 6,181,100 (GRCm39)	E28G	possibly damaging	Het
Slc38a8	G	T	8: 120,226,554 (GRCm39)	Y78*	probably null	Het
Slc4a7	T	C	14: 14,775,000 (GRCm38)	M810T	probably damaging	Het
Slitrk1	A	G	14: 109,150,591 (GRCm39)	V40A	possibly damaging	Het
Sobp	A	T	10: 42,898,831 (GRCm39)	S251R	probably damaging	Het
Spata31d1a	G	A	13: 59,851,015 (GRCm39)	S371L	probably benign	Het
Tada2b	T	C	5: 36,634,180 (GRCm39)	T133A	possibly damaging	Het
Tbc1d20	A	G	2: 152,146,881 (GRCm39)	D90G	probably benign	Het
Tek	T	A	4: 94,715,533 (GRCm39)	I408K	probably benign	Het
Tgfb2	A	G	1: 186,382,077 (GRCm39)	F150S	probably benign	Het
Tmem63b	T	C	17: 45,977,517 (GRCm39)	T370A	probably benign	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Tspan17	C	G	13: 54,940,434 (GRCm39)	L34V	probably benign	Het
Vmn1r238	A	T	18: 3,123,151 (GRCm39)	Y88N	probably damaging	Het
Vmn1r85	A	G	7: 12,818,964 (GRCm39)	I60T	probably damaging	Het
Vmn2r96	T	C	17: 18,803,029 (GRCm39)	M313T	probably benign	Het
Zp3r	G	A	1: 130,511,217 (GRCm39)	S387F	probably benign	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
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'- TTGATATGGGATGGCGGACC -3'
(R):5'- GGTTATAATGAACCCCGCCC -3'

Sequencing Primer
(F):5'- CCCTGGGAGCAGAATAAGTGCC -3'
(R):5'- GTTATAATGAACCCCGCCCTCCTAC -3'

Posted On

2019-09-13