Mutagenetix > Incidental Mutation

Incidental Mutation 'R4450:Nsun4'

328914

Institutional Source

Beutler Lab

Gene Symbol

Nsun4

Ensembl Gene

ENSMUSG00000028706

Gene Name

NOL1/NOP2/Sun domain family, member 4

Synonyms

MMRRC Submission

041711-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.395) question?

Stock #

R4450 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116032842-116053876 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 116051256 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 702 (Y702*)

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: ENSMUST00000136655

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152712

Predicted Effect

probably null
Transcript: ENSMUST00000165493
AA Change: Y702*

SMART Domains

Protein: ENSMUSP00000130430
Gene: ENSMUSG00000028706
AA Change: Y702*

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3930402G23Rik	T	A	8: 10,926,129		noncoding transcript	Het
Acsl6	A	G	11: 54,328,403	D278G	probably damaging	Het
Adamdec1	C	T	14: 68,573,119	R196Q	probably benign	Het
Akap13	T	A	7: 75,742,760	F2450L	probably damaging	Het
Alg11	C	A	8: 22,068,079	A469E	probably benign	Het
Angel1	A	T	12: 86,721,924	Y262N	probably damaging	Het
Arhgef18	A	G	8: 3,437,097	E272G	probably damaging	Het
Bpifb6	A	G	2: 153,906,768	E228G	possibly damaging	Het
Brca2	T	G	5: 150,536,053	D264E	probably damaging	Het
Cdca4	T	C	12: 112,821,658	N150S	probably benign	Het
Cep162	T	C	9: 87,225,808	S510G	probably damaging	Het
Cldn12	T	C	5: 5,508,398	T10A	probably damaging	Het
Clip2	C	T	5: 134,502,953	G631D	possibly damaging	Het
Col19a1	T	A	1: 24,322,035	T625S	probably damaging	Het
Col6a5	C	T	9: 105,904,521	G1635D	unknown	Het
Dcp1b	A	G	6: 119,206,476	T175A	probably benign	Het
Eln	C	T	5: 134,725,781		probably benign	Het
Galnt2	A	G	8: 124,295,377	D14G	probably benign	Het
Gm9894	T	A	13: 67,765,080		noncoding transcript	Het
Herc2	T	C	7: 56,227,892	L4569P	probably damaging	Het
Hrasls	C	T	16: 29,228,224	T165M	possibly damaging	Het
Iqcm	T	C	8: 75,629,766	S176P	probably damaging	Het
Klhl42	G	A	6: 147,091,671	G47D	probably benign	Het
Lmo2	T	C	2: 103,981,062	Y147H	probably damaging	Het
Lzts2	A	T	19: 45,023,593	K154*	probably null	Het
Map4k3	C	T	17: 80,603,982		probably null	Het
Mlc1	A	G	15: 88,963,490	F285S	probably benign	Het
Myo5a	T	A	9: 75,167,176	M789K	probably benign	Het
Nbeal1	T	A	1: 60,267,774	S319T	probably damaging	Het
Olfr917	A	T	9: 38,665,754	V30E	probably benign	Het
Olfr954	G	A	9: 39,462,032	M200I	probably benign	Het
Osbpl5	T	A	7: 143,694,906	T640S	probably benign	Het
Rangrf	A	T	11: 68,975,184		probably benign	Het
Rnpc3	T	C	3: 113,611,137		probably benign	Het
Ros1	C	T	10: 52,077,942	G1867D	probably damaging	Het
Slc11a1	C	A	1: 74,385,535		probably benign	Het
Slc15a4	A	G	5: 127,604,536		probably null	Het
Speer3	C	G	5: 13,796,380	A238G	possibly damaging	Het
Syt6	A	G	3: 103,585,645	H156R	probably benign	Het
Tln2	C	T	9: 67,344,065		probably null	Het
Trim58	T	C	11: 58,651,365	W384R	probably benign	Het
Wwc2	A	G	8: 47,868,667	Y471H	unknown	Het

Other mutations in Nsun4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB009:Nsun4	UTSW	4	116044800	missense	probably damaging	1.00
BB019:Nsun4	UTSW	4	116044800	missense	probably damaging	1.00
R0089:Nsun4	UTSW	4	116035773	missense	probably benign	0.01
R0306:Nsun4	UTSW	4	116052822	nonsense	probably null
R0365:Nsun4	UTSW	4	116044738	missense	probably damaging	1.00
R1440:Nsun4	UTSW	4	116052950	missense	possibly damaging	0.83
R1624:Nsun4	UTSW	4	116034200	missense	probably benign	0.05
R2058:Nsun4	UTSW	4	116053680	splice site	probably null
R2262:Nsun4	UTSW	4	116052950	missense	probably benign	0.27
R2438:Nsun4	UTSW	4	116048597	missense	probably benign	0.01
R3029:Nsun4	UTSW	4	116052725	missense	possibly damaging	0.83
R4012:Nsun4	UTSW	4	116051062	missense	possibly damaging	0.66
R4162:Nsun4	UTSW	4	116034194	nonsense	probably null
R4166:Nsun4	UTSW	4	116034051	missense	probably damaging	0.98
R4277:Nsun4	UTSW	4	116034282	missense	probably damaging	1.00
R4433:Nsun4	UTSW	4	116040130	missense	possibly damaging	0.75
R5077:Nsun4	UTSW	4	116048584	missense	probably benign	0.00
R5307:Nsun4	UTSW	4	116034138	missense	probably damaging	0.98
R5509:Nsun4	UTSW	4	116051777	missense	possibly damaging	0.46
R5510:Nsun4	UTSW	4	116051777	missense	possibly damaging	0.46
R6145:Nsun4	UTSW	4	116040206	missense	probably damaging	1.00
R6520:Nsun4	UTSW	4	116044738	missense	probably damaging	1.00
R6848:Nsun4	UTSW	4	116052934	missense	possibly damaging	0.90
R7346:Nsun4	UTSW	4	116051838	missense	probably benign	0.01
R7528:Nsun4	UTSW	4	116034194	nonsense	probably null
R7560:Nsun4	UTSW	4	116051494	missense	possibly damaging	0.92
R7719:Nsun4	UTSW	4	116052420	missense	possibly damaging	0.82
R7798:Nsun4	UTSW	4	116051174	missense	possibly damaging	0.83
R7868:Nsun4	UTSW	4	116034132	missense	probably benign
R7932:Nsun4	UTSW	4	116044800	missense	probably damaging	1.00
R8074:Nsun4	UTSW	4	116051434	missense	possibly damaging	0.92
R8109:Nsun4	UTSW	4	116051843	missense	probably benign	0.00
R9006:Nsun4	UTSW	4	116040119	missense	probably damaging	1.00
R9260:Nsun4	UTSW	4	116044810	missense	probably damaging	1.00
R9383:Nsun4	UTSW	4	116034276	missense	probably benign	0.02
R9592:Nsun4	UTSW	4	116051655	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- TGACACCCATGTTGGTACTCTC -3'
(R):5'- TTGAGAACACCCTTTGACCCC -3'

Sequencing Primer
(F):5'- GGTACTCTCATTACGGTCCTGAG -3'
(R):5'- GATGTTTACCTGTTGTCCCTCGAG -3'

Posted On

2015-07-21