Mutagenetix > Incidental Mutation

Incidental Mutation 'R9082:Nsun5'

690071

Institutional Source

Beutler Lab

Gene Symbol

Nsun5

Ensembl Gene

ENSMUSG00000000916

Gene Name

NOL1/NOP2/Sun domain family, member 5

Synonyms

Wbscr20a, 9830109N13Rik, Nol1r

MMRRC Submission

068901-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9082 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135398807-135405659 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135402828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 174 (L174P)

Ref Sequence

ENSEMBL: ENSMUSP00000000940 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000940] [ENSMUST00000111171] [ENSMUST00000170342]

AlphaFold

Q8K4F6

Predicted Effect

probably damaging
Transcript: ENSMUST00000000940
AA Change: L174P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000940
Gene: ENSMUSG00000000916
AA Change: L174P

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	78	90	N/A	INTRINSIC
low complexity region	180	189	N/A	INTRINSIC
Pfam:Nol1_Nop2_Fmu	219	423	1.1e-32	PFAM
low complexity region	448	454	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111171

SMART Domains

Protein: ENSMUSP00000106801
Gene: ENSMUSG00000053293

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC
low complexity region	147	165	N/A	INTRINSIC
low complexity region	174	188	N/A	INTRINSIC
Pfam:POM121	292	527	1.3e-111	PFAM
low complexity region	541	551	N/A	INTRINSIC
low complexity region	552	576	N/A	INTRINSIC
low complexity region	581	602	N/A	INTRINSIC
low complexity region	605	621	N/A	INTRINSIC
low complexity region	658	674	N/A	INTRINSIC
low complexity region	681	699	N/A	INTRINSIC
low complexity region	715	742	N/A	INTRINSIC
low complexity region	767	776	N/A	INTRINSIC
low complexity region	782	800	N/A	INTRINSIC
low complexity region	809	825	N/A	INTRINSIC
internal_repeat_4	827	861	8.15e-5	PROSPERO
low complexity region	874	904	N/A	INTRINSIC
internal_repeat_3	905	952	5.01e-5	PROSPERO
internal_repeat_1	917	961	1.66e-6	PROSPERO
low complexity region	963	979	N/A	INTRINSIC
low complexity region	1002	1048	N/A	INTRINSIC
low complexity region	1050	1099	N/A	INTRINSIC
internal_repeat_2	1104	1144	4.39e-6	PROSPERO
internal_repeat_1	1114	1155	1.66e-6	PROSPERO
internal_repeat_4	1125	1164	8.15e-5	PROSPERO
internal_repeat_3	1126	1175	5.01e-5	PROSPERO
internal_repeat_2	1142	1178	4.39e-6	PROSPERO

Predicted Effect

silent
Transcript: ENSMUST00000170342

SMART Domains

Protein: ENSMUSP00000128370
Gene: ENSMUSG00000000916

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	76	91	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202422

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afm	G	T	5: 90,698,095 (GRCm39)	C499F	probably damaging	Het
Agap2	A	G	10: 126,918,911 (GRCm39)	E429G	probably damaging	Het
Ankrd22	A	T	19: 34,126,662 (GRCm39)	V56D	probably damaging	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Ccdc168	G	A	1: 44,099,874 (GRCm39)	S408L	unknown	Het
Cdk4	T	A	10: 126,900,732 (GRCm39)	L128Q	probably damaging	Het
Clu	T	C	14: 66,217,153 (GRCm39)	S329P	probably damaging	Het
Cntnap5c	A	G	17: 58,637,335 (GRCm39)	N1071D	probably damaging	Het
Col5a1	T	C	2: 27,852,122 (GRCm39)	S540P	possibly damaging	Het
Cpne2	A	C	8: 95,295,237 (GRCm39)	I441L	probably benign	Het
Ctu2	T	C	8: 123,203,952 (GRCm39)	S87P	probably damaging	Het
Dhodh	G	T	8: 110,322,734 (GRCm39)	N211K	probably damaging	Het
Dtnb	G	A	12: 3,822,740 (GRCm39)	A570T	possibly damaging	Het
Eif3m	A	T	2: 104,836,217 (GRCm39)	V209E	probably damaging	Het
Fbxo31	G	A	8: 122,281,136 (GRCm39)	R337C	probably damaging	Het
Fktn	T	C	4: 53,720,010 (GRCm39)	V8A	unknown	Het
Ftdc1	T	C	16: 58,437,294 (GRCm39)	R5G	probably benign	Het
Gcnt1	G	T	19: 17,307,559 (GRCm39)	S55R	probably benign	Het
Gm11011	G	T	2: 169,426,424 (GRCm39)	P63Q		Het
Grk5	T	C	19: 61,034,567 (GRCm39)	I105T	possibly damaging	Het
Gskip	G	A	12: 105,665,009 (GRCm39)	S16N	probably benign	Het
Gys1	C	A	7: 45,088,917 (GRCm39)	N169K	probably benign	Het
Itgb2	T	C	10: 77,384,503 (GRCm39)	L208P	probably damaging	Het
Kcnh7	A	G	2: 62,607,878 (GRCm39)	C568R	probably damaging	Het
Krt84	C	T	15: 101,440,814 (GRCm39)	G126D	unknown	Het
Lrrc26	T	A	2: 25,180,344 (GRCm39)	F115Y	probably damaging	Het
Mul1	T	C	4: 138,166,945 (GRCm39)	I338T	probably damaging	Het
Ncam2	T	A	16: 81,412,660 (GRCm39)	L716H	probably damaging	Het
Ncoa1	C	T	12: 4,346,106 (GRCm39)	V414I	probably benign	Het
Negr1	C	A	3: 156,774,876 (GRCm39)	C197*	probably null	Het
Nisch	G	T	14: 30,899,331 (GRCm39)	A438E	unknown	Het
Obscn	A	T	11: 58,903,612 (GRCm39)	V7454E	probably benign	Het
Optn	A	C	2: 5,059,451 (GRCm39)	N22K	probably damaging	Het
Or5k15	C	T	16: 58,709,834 (GRCm39)	V250M	probably damaging	Het
Or6d13	G	A	6: 116,517,969 (GRCm39)	C185Y	probably damaging	Het
Pcdhb22	A	G	18: 37,653,047 (GRCm39)	N248S	probably damaging	Het
Pcnx2	A	C	8: 126,613,753 (GRCm39)	L566R	probably damaging	Het
Pdlim5	C	T	3: 142,009,163 (GRCm39)	V191I	possibly damaging	Het
Pdzrn3	C	T	6: 101,146,094 (GRCm39)		probably null	Het
Peak1	A	T	9: 56,165,504 (GRCm39)	I808N	probably benign	Het
Pomt1	A	C	2: 32,142,973 (GRCm39)	Y617S	probably damaging	Het
Ptch2	G	A	4: 116,962,297 (GRCm39)		probably null	Het
Rptn	A	G	3: 93,302,928 (GRCm39)	H87R	possibly damaging	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Slc37a4	A	G	9: 44,313,016 (GRCm39)	T333A	probably benign	Het
Slc5a7	A	G	17: 54,604,139 (GRCm39)	V9A	probably benign	Het
Slc6a20a	A	G	9: 123,507,832 (GRCm39)	F14L	possibly damaging	Het
Smg7	A	T	1: 152,715,928 (GRCm39)	M1062K	probably damaging	Het
Tsc22d4	T	C	5: 137,749,509 (GRCm39)	Y262H	probably damaging	Het
Vmn2r83	C	T	10: 79,304,894 (GRCm39)	H35Y	probably benign	Het
Zc3h13	CAGAGACCGGGACAGAAGGAGAGAC	CAGAGAC	14: 75,569,381 (GRCm39)		probably benign	Het
Zeb1	C	T	18: 5,772,557 (GRCm39)	H949Y	probably damaging	Het
Zfp184	T	A	13: 22,143,636 (GRCm39)	H447Q	probably damaging	Het
Zfp551	T	C	7: 12,151,004 (GRCm39)	E135G	probably damaging	Het

Other mutations in Nsun5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:Nsun5	APN	5	135,404,249 (GRCm39)	missense	possibly damaging	0.69
IGL01797:Nsun5	APN	5	135,404,225 (GRCm39)	missense	probably damaging	1.00
IGL01817:Nsun5	APN	5	135,398,893 (GRCm39)	missense	probably damaging	1.00
IGL03233:Nsun5	APN	5	135,404,299 (GRCm39)	missense	probably damaging	1.00
eastern	UTSW	5	135,403,912 (GRCm39)	missense	probably damaging	1.00
R6922_Nsun5_674	UTSW	5	135,399,046 (GRCm39)	missense	probably damaging	0.98
tropical	UTSW	5	135,404,317 (GRCm39)	nonsense	probably null
PIT4382001:Nsun5	UTSW	5	135,400,355 (GRCm39)	missense	probably benign
R1436:Nsun5	UTSW	5	135,399,067 (GRCm39)	missense	probably damaging	1.00
R1710:Nsun5	UTSW	5	135,400,170 (GRCm39)	missense	probably damaging	1.00
R1919:Nsun5	UTSW	5	135,404,452 (GRCm39)	missense	probably benign	0.00
R2067:Nsun5	UTSW	5	135,403,926 (GRCm39)	missense	probably damaging	1.00
R2937:Nsun5	UTSW	5	135,404,317 (GRCm39)	nonsense	probably null
R2938:Nsun5	UTSW	5	135,404,317 (GRCm39)	nonsense	probably null
R4277:Nsun5	UTSW	5	135,398,914 (GRCm39)	missense	probably damaging	1.00
R4278:Nsun5	UTSW	5	135,398,914 (GRCm39)	missense	probably damaging	1.00
R5732:Nsun5	UTSW	5	135,400,204 (GRCm39)	missense	probably damaging	1.00
R6261:Nsun5	UTSW	5	135,400,385 (GRCm39)	missense	probably damaging	1.00
R6525:Nsun5	UTSW	5	135,403,912 (GRCm39)	missense	probably damaging	1.00
R6922:Nsun5	UTSW	5	135,399,046 (GRCm39)	missense	probably damaging	0.98
R7110:Nsun5	UTSW	5	135,400,104 (GRCm39)	missense	probably damaging	1.00
R7977:Nsun5	UTSW	5	135,404,534 (GRCm39)	missense	probably damaging	1.00
R7987:Nsun5	UTSW	5	135,404,534 (GRCm39)	missense	probably damaging	1.00
R8560:Nsun5	UTSW	5	135,404,743 (GRCm39)	missense	probably benign
R8674:Nsun5	UTSW	5	135,400,394 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGATTGAGTTCCAGATCCTGTGTC -3'
(R):5'- GCCTAGCAGGACACAAGATG -3'

Sequencing Primer
(F):5'- AAGGGCACAGACTGCTTTTC -3'
(R):5'- TGGGCGAACACAGAGCC -3'

Posted On

2021-11-19