Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02657:Syncrip'

302380

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Syncrip

Ensembl Gene

ENSMUSG00000032423

Gene Name

synaptotagmin binding, cytoplasmic RNA interacting protein

Synonyms

hnRNP Q, GRY-RBP, Nsap1, pp68, RRM RNA binding protein GRY-RBP, Nsap1l, 2610109K23Rik, 4632417O19Rik

Accession Numbers

Genbank: NM_019666, NM_019796; MGI: 1891690

Essential gene?

Probably essential (E-score: 0.774) question?

Stock #

IGL02657

Quality Score

Status

Chromosome

Chromosomal Location

88447009-88482574 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 88456404 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 536 (R536S)

Ref Sequence

ENSEMBL: ENSMUSP00000133649 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069221] [ENSMUST00000172828] [ENSMUST00000173801] [ENSMUST00000174269] [ENSMUST00000174282] [ENSMUST00000174361] [ENSMUST00000174391] [ENSMUST00000174688]

AlphaFold

Q7TMK9

Predicted Effect

probably benign
Transcript: ENSMUST00000069221
AA Change: R536S

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000063744
Gene: ENSMUSG00000032423
AA Change: R536S

Domain	Start	End	E-Value	Type
RRM	163	237	3.38e-21	SMART
RRM	244	321	2.1e-8	SMART
RRM	339	404	1.4e-18	SMART
low complexity region	428	490	N/A	INTRINSIC
low complexity region	494	522	N/A	INTRINSIC
low complexity region	526	553	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000154586
AA Change: R33S

SMART Domains

Protein: ENSMUSP00000133964
Gene: ENSMUSG00000092541
AA Change: R33S

Domain	Start	End	E-Value	Type
low complexity region	1	20	N/A	INTRINSIC
low complexity region	24	50	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172828

Predicted Effect

unknown
Transcript: ENSMUST00000173131
AA Change: R71S

SMART Domains

Protein: ENSMUSP00000134122
Gene: ENSMUSG00000092541
AA Change: R71S

Domain	Start	End	E-Value	Type
low complexity region	1	26	N/A	INTRINSIC
low complexity region	30	58	N/A	INTRINSIC
low complexity region	62	88	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173801
AA Change: R536S

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133649
Gene: ENSMUSG00000032423
AA Change: R536S

Domain	Start	End	E-Value	Type
RRM	163	237	3.38e-21	SMART
RRM	244	321	2.1e-8	SMART
RRM	339	404	1.4e-18	SMART
low complexity region	428	490	N/A	INTRINSIC
low complexity region	494	522	N/A	INTRINSIC
low complexity region	526	563	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000174269
AA Change: R501S

SMART Domains

Protein: ENSMUSP00000134506
Gene: ENSMUSG00000032423
AA Change: R501S

Domain	Start	End	E-Value	Type
RRM	163	237	3.38e-21	SMART
RRM	244	303	2.77e0	SMART
RRM	304	369	1.4e-18	SMART
low complexity region	393	455	N/A	INTRINSIC
low complexity region	459	487	N/A	INTRINSIC
low complexity region	491	518	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000174282
AA Change: R536S

SMART Domains

Protein: ENSMUSP00000134071
Gene: ENSMUSG00000032423
AA Change: R536S

Domain	Start	End	E-Value	Type
RRM	163	237	1.4e-23	SMART
RRM	244	321	9.1e-11	SMART
RRM	339	404	6e-21	SMART
low complexity region	428	490	N/A	INTRINSIC
low complexity region	494	522	N/A	INTRINSIC
low complexity region	526	552	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000174361
AA Change: R501S

SMART Domains

Protein: ENSMUSP00000134722
Gene: ENSMUSG00000032423
AA Change: R501S

Domain	Start	End	E-Value	Type
RRM	163	237	3.38e-21	SMART
RRM	244	303	2.77e0	SMART
RRM	304	369	1.4e-18	SMART
low complexity region	393	455	N/A	INTRINSIC
low complexity region	459	487	N/A	INTRINSIC
low complexity region	491	528	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000174391
AA Change: R438S

SMART Domains

Protein: ENSMUSP00000134342
Gene: ENSMUSG00000032423
AA Change: R438S

Domain	Start	End	E-Value	Type
RRM	65	139	3.38e-21	SMART
RRM	146	223	2.1e-8	SMART
RRM	241	306	1.4e-18	SMART
low complexity region	330	392	N/A	INTRINSIC
low complexity region	396	424	N/A	INTRINSIC
low complexity region	428	455	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000174688
AA Change: R422S

SMART Domains

Protein: ENSMUSP00000133716
Gene: ENSMUSG00000032423
AA Change: R422S

Domain	Start	End	E-Value	Type
RRM	163	224	3.18e-8	SMART
RRM	225	290	1.4e-18	SMART
low complexity region	314	376	N/A	INTRINSIC
low complexity region	380	408	N/A	INTRINSIC
low complexity region	412	439	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cellular heterogeneous nuclear ribonucleoprotein (hnRNP) family. hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA) and regulate alternative splicing, polyadenylation, and other aspects of mRNA metabolism and transport. The encoded protein plays a role in multiple aspects of mRNA maturation and is associated with several multiprotein complexes including the apoB RNA editing-complex and survival of motor neurons (SMN) complex. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 20. [provided by RefSeq, Dec 2011]

Allele List at MGI

All alleles(28) : Gene trapped(28)

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	G	A	11: 117,834,822	V120M	possibly damaging	Het
Aldh1l1	T	C	6: 90,590,794	L680P	probably damaging	Het
Alox12	A	T	11: 70,247,278	D410E	probably benign	Het
Amt	T	A	9: 108,301,380	V365E	probably damaging	Het
Ano9	A	G	7: 141,107,440	S321P	probably damaging	Het
Atp2c2	A	T	8: 119,753,032	I767F	probably damaging	Het
Bag1	A	T	4: 40,936,643	Y338N	probably benign	Het
Bcr	T	A	10: 75,154,964	D767E	probably benign	Het
Chfr	A	T	5: 110,154,839	Q350L	probably damaging	Het
Cops3	A	T	11: 59,830,217	L124H	probably damaging	Het
Ddx60	T	C	8: 61,984,115	Y988H	probably benign	Het
Dnajc2	A	T	5: 21,770,481		probably benign	Het
Dym	C	T	18: 75,082,456	Q238*	probably null	Het
Fam126b	A	T	1: 58,535,402	W327R	probably damaging	Het
Fbn1	A	T	2: 125,352,025	C1341S	possibly damaging	Het
Fryl	G	T	5: 73,054,860	N2308K	probably benign	Het
Gbp2b	G	T	3: 142,604,112	R221L	probably damaging	Het
Gm4070	T	C	7: 105,896,765	K2360R	probably damaging	Het
Gpat2	A	G	2: 127,427,331	N8S	probably benign	Het
Ift52	A	G	2: 163,045,215	D379G	probably damaging	Het
Inhbe	C	A	10: 127,350,776	L178F	probably damaging	Het
Ipo5	T	C	14: 120,943,800	Y913H	possibly damaging	Het
Kif21b	T	A	1: 136,172,230	D1507E	possibly damaging	Het
Lnx2	A	G	5: 147,028,174	V413A	probably damaging	Het
Lrrc40	C	A	3: 158,036,773	F16L	probably damaging	Het
Magi2	A	G	5: 19,227,583	K99E	probably damaging	Het
Me3	A	G	7: 89,846,253	I357M	probably benign	Het
Med30	A	G	15: 52,719,365	Y66C	probably benign	Het
Mief2	A	T	11: 60,730,957	S118C	probably damaging	Het
Mylip	A	G	13: 45,391,246	S49G	probably benign	Het
Ncoa7	T	A	10: 30,652,976	D107V	probably damaging	Het
Nvl	C	A	1: 181,106,976	V655F	probably damaging	Het
Olfml2b	C	T	1: 170,681,076	T501I	probably benign	Het
Ormdl2	T	C	10: 128,820,317	I40V	probably benign	Het
Pde6b	G	T	5: 108,420,276		probably benign	Het
Ralgapa1	A	C	12: 55,673,507	L1785W	probably damaging	Het
Rnf112	A	T	11: 61,450,252		probably null	Het
Sema3c	T	A	5: 17,662,974	Y128N	probably damaging	Het
Sema3c	A	T	5: 17,576,868	M1L	possibly damaging	Het
Sema4b	G	A	7: 80,217,041	G255D	probably damaging	Het
Setd1a	C	T	7: 127,795,825		probably benign	Het
Sirpb1a	A	C	3: 15,417,051	S72R	possibly damaging	Het
Slu7	T	A	11: 43,442,022		probably null	Het
Spata19	T	C	9: 27,397,980	V59A	probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Suclg1	T	A	6: 73,260,521	V83E	probably damaging	Het
Tap2	T	C	17: 34,205,458	V55A	probably damaging	Het
Tekt4	T	C	17: 25,473,758	I186T	possibly damaging	Het
Trpc6	C	A	9: 8,643,601	D462E	possibly damaging	Het
Ubqln3	T	G	7: 104,141,963	T307P	probably damaging	Het
Vmn1r64	A	T	7: 5,883,728	I272K	probably benign	Het
Xpr1	T	C	1: 155,290,280	T574A	probably benign	Het
Zfc3h1	A	G	10: 115,411,954	T1021A	possibly damaging	Het
Zfp512	A	T	5: 31,471,157	H159L	probably damaging	Het

Other mutations in Syncrip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Syncrip	APN	9	88456607	utr 3 prime	probably benign
IGL01474:Syncrip	APN	9	88480747	missense	probably benign	0.04
IGL02659:Syncrip	APN	9	88456404	missense	probably benign	0.23
IGL02660:Syncrip	APN	9	88456404	missense	probably benign	0.23
IGL02699:Syncrip	APN	9	88456554	utr 3 prime	probably benign
IGL02727:Syncrip	APN	9	88479879	missense	probably damaging	1.00
IGL02801:Syncrip	APN	9	88479809	missense	probably damaging	1.00
IGL03169:Syncrip	APN	9	88456443	utr 3 prime	probably benign
IGL03214:Syncrip	APN	9	88464643	intron	probably benign
3-1:Syncrip	UTSW	9	88461674	nonsense	probably null
R0426:Syncrip	UTSW	9	88456259	intron	probably benign
R1500:Syncrip	UTSW	9	88479896	missense	probably damaging	0.98
R1952:Syncrip	UTSW	9	88476874	missense	probably damaging	1.00
R2437:Syncrip	UTSW	9	88479567	splice site	probably benign
R3715:Syncrip	UTSW	9	88479685	splice site	probably benign
R3779:Syncrip	UTSW	9	88476939	missense	probably damaging	1.00
R4770:Syncrip	UTSW	9	88479852	missense	probably damaging	1.00
R5677:Syncrip	UTSW	9	88456709	unclassified	probably benign
R6860:Syncrip	UTSW	9	88476796	missense	probably damaging	0.98
R7286:Syncrip	UTSW	9	88464663	missense	probably damaging	1.00
R7736:Syncrip	UTSW	9	88461668	critical splice donor site	probably null
R8778:Syncrip	UTSW	9	88456241	missense	unknown
R8937:Syncrip	UTSW	9	88462847	intron	probably benign
R9684:Syncrip	UTSW	9	88479618	missense	probably benign	0.02

Posted On

2015-04-16