Mutagenetix > Incidental Mutation

Incidental Mutation 'R4770:Syncrip'

367420

Institutional Source

Beutler Lab

Gene Symbol

Syncrip

Ensembl Gene

ENSMUSG00000032423

Gene Name

synaptotagmin binding, cytoplasmic RNA interacting protein

Synonyms

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

MMRRC Submission

042410-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.696) question?

Stock #

R4770 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88331417-88364645 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88361905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 70 (E70V)

Ref Sequence

ENSEMBL: ENSMUSP00000133716 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069221] [ENSMUST00000172508] [ENSMUST00000172828] [ENSMUST00000173405] [ENSMUST00000173801] [ENSMUST00000174269] [ENSMUST00000174282] [ENSMUST00000174361] [ENSMUST00000174688] [ENSMUST00000174391]

AlphaFold

Q7TMK9

Predicted Effect

probably benign
Transcript: ENSMUST00000069221
AA Change: E70V

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000063744
Gene: ENSMUSG00000032423
AA Change: E70V

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

probably damaging
Transcript: ENSMUST00000172508
AA Change: E70V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000172828

Predicted Effect

probably benign
Transcript: ENSMUST00000173405
AA Change: E70V

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000133343
Gene: ENSMUSG00000032423
AA Change: E70V

Domain	Start	End	E-Value	Type
SCOP:d1l3ka1	156	196	5e-8	SMART
Blast:RRM	163	196	5e-17	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173801
AA Change: E70V

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000133649
Gene: ENSMUSG00000032423
AA Change: E70V

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

noncoding transcript
Transcript: ENSMUST00000174145

Predicted Effect

probably benign
Transcript: ENSMUST00000174269
AA Change: E70V

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000134506
Gene: ENSMUSG00000032423
AA Change: E70V

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

probably damaging
Transcript: ENSMUST00000174282
AA Change: E70V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134071
Gene: ENSMUSG00000032423
AA Change: E70V

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

possibly damaging
Transcript: ENSMUST00000174361
AA Change: E70V

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134722
Gene: ENSMUSG00000032423
AA Change: E70V

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

probably damaging
Transcript: ENSMUST00000174688
AA Change: E70V

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

SMART Domains

Protein: ENSMUSP00000133716
Gene: ENSMUSG00000032423
AA Change: E70V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187770

Predicted Effect

probably benign
Transcript: ENSMUST00000174391

SMART Domains

Protein: ENSMUSP00000134342
Gene: ENSMUSG00000032423

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

Meta Mutation Damage Score

0.1056

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

93% (89/96)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,962,341 (GRCm39)	V503A	possibly damaging	Het
Agps	T	A	2: 75,722,199 (GRCm39)	F463Y	possibly damaging	Het
Ajm1	G	A	2: 25,469,759 (GRCm39)	R51C	possibly damaging	Het
Amigo3	A	T	9: 107,930,734 (GRCm39)	L52F	probably damaging	Het
Anapc1	T	C	2: 128,527,980 (GRCm39)		probably benign	Het
Ankrd36	G	T	11: 5,540,870 (GRCm39)	C312F	possibly damaging	Het
Asic2	A	C	11: 80,862,318 (GRCm39)	D226E	probably benign	Het
Atp8b2	T	A	3: 89,864,374 (GRCm39)	Q197L	probably damaging	Het
C2cd3	A	G	7: 100,092,642 (GRCm39)	Y495C	probably damaging	Het
Ccdc51	A	G	9: 108,919,978 (GRCm39)	T125A	probably benign	Het
Ccser1	A	G	6: 61,288,485 (GRCm39)	Y216C	possibly damaging	Het
Cimap1b	A	G	15: 89,263,326 (GRCm39)	I19T	probably damaging	Het
Cntfr	A	T	4: 41,663,282 (GRCm39)	I175N	possibly damaging	Het
Cox10	G	A	11: 63,854,989 (GRCm39)	R431W	probably benign	Het
Cubn	T	C	2: 13,319,578 (GRCm39)	T2881A	possibly damaging	Het
Cyp2d9	T	A	15: 82,336,774 (GRCm39)	V41E	probably damaging	Het
Dmrtb1	C	T	4: 107,540,986 (GRCm39)	G125D	probably benign	Het
Dscaml1	C	T	9: 45,581,404 (GRCm39)	R408C	probably damaging	Het
Duox2	A	T	2: 122,115,397 (GRCm39)	S1052T	probably benign	Het
Ecm1	A	G	3: 95,645,273 (GRCm39)		probably benign	Het
Edrf1	G	T	7: 133,260,339 (GRCm39)	M83I	probably damaging	Het
Epb41l1	T	A	2: 156,371,344 (GRCm39)	M727K	probably benign	Het
Exosc9	T	C	3: 36,607,984 (GRCm39)	V64A	probably damaging	Het
Ezh2	A	T	6: 47,517,630 (GRCm39)	I564N	probably damaging	Het
Fam89b	C	A	19: 5,779,482 (GRCm39)	R25L	probably damaging	Het
Fgr	C	T	4: 132,714,602 (GRCm39)	T98M	probably damaging	Het
Fhip2b	T	A	14: 70,825,727 (GRCm39)	D351V	probably damaging	Het
Gapvd1	A	G	2: 34,581,193 (GRCm39)	S1089P	probably damaging	Het
Gbp5	A	T	3: 142,213,837 (GRCm39)	I544F	possibly damaging	Het
Gli2	C	A	1: 118,910,318 (GRCm39)		probably benign	Het
Gm9934	A	G	7: 92,702,192 (GRCm39)		noncoding transcript	Het
Greb1	A	T	12: 16,731,357 (GRCm39)	D1660E	probably benign	Het
Gtf2i	T	A	5: 134,272,414 (GRCm39)	N750I	possibly damaging	Het
H2-DMb2	G	C	17: 34,367,698 (GRCm39)	D171H	probably damaging	Het
Il11ra1	A	G	4: 41,768,187 (GRCm39)	E366G	probably damaging	Het
Itga2b	A	G	11: 102,351,582 (GRCm39)	F581S	probably damaging	Het
Itsn2	T	A	12: 4,677,892 (GRCm39)	M83K	probably damaging	Het
Kif27	G	A	13: 58,492,191 (GRCm39)	T316M	probably damaging	Het
Lad1	A	T	1: 135,753,531 (GRCm39)	Q26L	probably damaging	Het
Lrrn3	T	A	12: 41,502,442 (GRCm39)	H625L	probably benign	Het
Mast1	A	G	8: 85,655,875 (GRCm39)	V155A	probably benign	Het
Mast3	G	A	8: 71,238,864 (GRCm39)	T480M	probably damaging	Het
Mpc1	C	T	17: 8,512,377 (GRCm39)		probably benign	Het
Mycbp2	T	A	14: 103,457,380 (GRCm39)	M1606L	probably benign	Het
Myo1c	T	A	11: 75,551,139 (GRCm39)	L238*	probably null	Het
Nanog	T	G	6: 122,688,550 (GRCm39)	S44A	possibly damaging	Het
Neb	T	C	2: 52,039,165 (GRCm39)	Q6958R	probably benign	Het
Ngef	C	T	1: 87,405,283 (GRCm39)	R709H	probably damaging	Het
Nr1d1	A	G	11: 98,661,471 (GRCm39)	V265A	probably benign	Het
Nr3c2	A	G	8: 77,634,872 (GRCm39)		probably null	Het
Olfm5	A	G	7: 103,809,685 (GRCm39)	S164P	probably benign	Het
Parvb	T	C	15: 84,188,106 (GRCm39)		probably null	Het
Pde4dip	G	T	3: 97,674,400 (GRCm39)	A172D	probably damaging	Het
Phf2	A	G	13: 48,957,079 (GRCm39)	L1096P	probably damaging	Het
Pik3r6	T	A	11: 68,420,720 (GRCm39)	V155E	probably damaging	Het
Pinx1	T	G	14: 64,109,820 (GRCm39)	V124G	probably damaging	Het
Poglut1	A	G	16: 38,355,119 (GRCm39)	Y236H	probably damaging	Het
Pou4f2	T	A	8: 79,163,030 (GRCm39)	M2L	unknown	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Pramel26	C	T	4: 143,538,519 (GRCm39)	E151K	probably damaging	Het
Prkaca	A	G	8: 84,717,499 (GRCm39)	N209S	probably benign	Het
Ring1	G	A	17: 34,242,361 (GRCm39)	P49S	probably damaging	Het
Rnf20	T	A	4: 49,633,412 (GRCm39)		probably null	Het
Rnf25	G	A	1: 74,633,099 (GRCm39)	R418C	probably damaging	Het
Ryr1	G	T	7: 28,808,707 (GRCm39)	P462Q	probably damaging	Het
Serpinb3d	A	G	1: 107,006,008 (GRCm39)	F360S	probably damaging	Het
Setd7	T	C	3: 51,428,843 (GRCm39)	E329G	probably damaging	Het
Slco2b1	C	T	7: 99,320,156 (GRCm39)		probably null	Het
Snap91	G	A	9: 86,655,654 (GRCm39)	T844I	possibly damaging	Het
Snhg5	C	T	9: 88,404,424 (GRCm39)		noncoding transcript	Het
Son	T	A	16: 91,455,756 (GRCm39)	V1501E	probably damaging	Het
Tas2r125	A	G	6: 132,886,750 (GRCm39)	D46G	probably damaging	Het
Tmem115	G	A	9: 107,412,156 (GRCm39)	R160Q	probably benign	Het
Trerf1	G	A	17: 47,630,581 (GRCm39)		noncoding transcript	Het
Tut7	A	G	13: 59,920,698 (GRCm39)		probably benign	Het
Uggt2	A	T	14: 119,266,466 (GRCm39)		probably null	Het
Ush2a	G	T	1: 188,282,076 (GRCm39)	V1864F	probably benign	Het
Xkr4	A	T	1: 3,286,714 (GRCm39)	V492D	probably damaging	Het
Zfp646	T	A	7: 127,482,649 (GRCm39)	S1609T	possibly damaging	Het
Zfp65	A	T	13: 67,856,477 (GRCm39)	H277Q	probably damaging	Het
Zfp69	A	G	4: 120,791,614 (GRCm39)	S176P	probably damaging	Het
Zfp747	C	T	7: 126,974,971 (GRCm39)	A10T	probably damaging	Het
Zfp850	T	C	7: 27,684,411 (GRCm39)		probably null	Het

Other mutations in Syncrip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Syncrip	APN	9	88,338,660 (GRCm39)	utr 3 prime	probably benign
IGL01474:Syncrip	APN	9	88,362,800 (GRCm39)	missense	probably benign	0.04
IGL02657:Syncrip	APN	9	88,338,457 (GRCm39)	missense	probably benign	0.23
IGL02659:Syncrip	APN	9	88,338,457 (GRCm39)	missense	probably benign	0.23
IGL02660:Syncrip	APN	9	88,338,457 (GRCm39)	missense	probably benign	0.23
IGL02699:Syncrip	APN	9	88,338,607 (GRCm39)	utr 3 prime	probably benign
IGL02727:Syncrip	APN	9	88,361,932 (GRCm39)	missense	probably damaging	1.00
IGL02801:Syncrip	APN	9	88,361,862 (GRCm39)	missense	probably damaging	1.00
IGL03169:Syncrip	APN	9	88,338,496 (GRCm39)	utr 3 prime	probably benign
IGL03214:Syncrip	APN	9	88,346,696 (GRCm39)	intron	probably benign
3-1:Syncrip	UTSW	9	88,343,727 (GRCm39)	nonsense	probably null
R0426:Syncrip	UTSW	9	88,338,312 (GRCm39)	intron	probably benign
R1500:Syncrip	UTSW	9	88,361,949 (GRCm39)	missense	probably damaging	0.98
R1952:Syncrip	UTSW	9	88,358,927 (GRCm39)	missense	probably damaging	1.00
R2437:Syncrip	UTSW	9	88,361,620 (GRCm39)	splice site	probably benign
R3715:Syncrip	UTSW	9	88,361,738 (GRCm39)	splice site	probably benign
R3779:Syncrip	UTSW	9	88,358,992 (GRCm39)	missense	probably damaging	1.00
R5677:Syncrip	UTSW	9	88,338,762 (GRCm39)	unclassified	probably benign
R6860:Syncrip	UTSW	9	88,358,849 (GRCm39)	missense	probably damaging	0.98
R7286:Syncrip	UTSW	9	88,346,716 (GRCm39)	missense	probably damaging	1.00
R7736:Syncrip	UTSW	9	88,343,721 (GRCm39)	critical splice donor site	probably null
R8778:Syncrip	UTSW	9	88,338,294 (GRCm39)	missense	unknown
R8937:Syncrip	UTSW	9	88,344,900 (GRCm39)	intron	probably benign
R9684:Syncrip	UTSW	9	88,361,671 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AGAGTCTGCTACTTTGGTCCC -3'
(R):5'- TTCATTATGTAGATAAGGGGAGGGC -3'

Sequencing Primer
(F):5'- GTCTTCATGACTCCACATAAAAAGG -3'
(R):5'- GCAAGGAGGGTAGAATCATTGTC -3'

Posted On

2015-12-29