Mutagenetix > Incidental Mutation

Incidental Mutation 'R1952:Syncrip'

217389

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

039966-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.696) question?

Stock #

R1952 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88331417-88364645 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88358927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 194 (M194K)

Ref Sequence

ENSEMBL: ENSMUSP00000134722 (fasta)

Gene Model

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

AlphaFold

Q7TMK9

Predicted Effect

probably damaging
Transcript: ENSMUST00000069221
AA Change: M194K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000063744
Gene: ENSMUSG00000032423
AA Change: M194K

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 benign
Transcript: ENSMUST00000172508

Predicted Effect

probably benign
Transcript: ENSMUST00000172828

Predicted Effect

probably damaging
Transcript: ENSMUST00000173405
AA Change: M194K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133343
Gene: ENSMUSG00000032423
AA Change: M194K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000173801
AA Change: M194K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133649
Gene: ENSMUSG00000032423
AA Change: M194K

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 damaging
Transcript: ENSMUST00000174269
AA Change: M194K

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

SMART Domains

Protein: ENSMUSP00000134506
Gene: ENSMUSG00000032423
AA Change: M194K

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: ENSMUST00000174361
AA Change: M194K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134722
Gene: ENSMUSG00000032423
AA Change: M194K

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: ENSMUST00000174391
AA Change: M96K

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

SMART Domains

Protein: ENSMUSP00000134342
Gene: ENSMUSG00000032423
AA Change: M96K

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

probably damaging
Transcript: ENSMUST00000174282
AA Change: M194K

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

SMART Domains

Protein: ENSMUSP00000134071
Gene: ENSMUSG00000032423
AA Change: M194K

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

probably damaging
Transcript: ENSMUST00000174688
AA Change: M194K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133716
Gene: ENSMUSG00000032423
AA Change: M194K

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	A	G	14: 32,110,293 (GRCm39)	V6A	possibly damaging	Het
Accsl	G	T	2: 93,689,778 (GRCm39)	H376Q	probably damaging	Het
Adgrg1	T	C	8: 95,735,119 (GRCm39)		probably null	Het
Alyref	C	G	11: 120,486,758 (GRCm39)	V168L	probably damaging	Het
Ankrd12	T	C	17: 66,338,566 (GRCm39)	D128G	probably damaging	Het
Bcl2l14	A	G	6: 134,409,329 (GRCm39)	Y301C	probably damaging	Het
Camsap3	A	G	8: 3,654,789 (GRCm39)	T804A	probably damaging	Het
Capn11	A	T	17: 45,953,885 (GRCm39)	W154R	probably damaging	Het
Cd44	T	A	2: 102,683,432 (GRCm39)	T201S	probably damaging	Het
Cers4	G	A	8: 4,573,461 (GRCm39)	W319*	probably null	Het
Col27a1	T	A	4: 63,202,130 (GRCm39)		probably null	Het
Crnkl1	G	A	2: 145,770,120 (GRCm39)	A241V	probably damaging	Het
Cyp2c68	T	C	19: 39,700,972 (GRCm39)	Y282C	probably benign	Het
Dmd	T	A	X: 82,874,123 (GRCm39)	I1342N	probably damaging	Het
Dusp7	T	A	9: 106,248,028 (GRCm39)	C219S	probably benign	Het
Epha7	A	G	4: 28,950,474 (GRCm39)	N759S	probably damaging	Het
Fat1	T	C	8: 45,486,963 (GRCm39)	V3413A	probably benign	Het
Gls2	A	G	10: 128,045,231 (GRCm39)	H576R	probably benign	Het
Gm4884	G	A	7: 40,693,671 (GRCm39)	V547M	probably benign	Het
Hap1	A	G	11: 100,243,105 (GRCm39)	V174A	probably damaging	Het
Il12rb2	A	G	6: 67,269,300 (GRCm39)	S838P	probably damaging	Het
Ints8	T	C	4: 11,221,150 (GRCm39)	I742V	probably benign	Het
Katnal2	G	T	18: 77,067,707 (GRCm39)	S411R	probably benign	Het
Lrp1	A	C	10: 127,403,300 (GRCm39)	V2091G	probably damaging	Het
Mettl21c	A	T	1: 44,056,368 (GRCm39)	D20E	probably damaging	Het
Mib1	A	T	18: 10,812,077 (GRCm39)	E991D	possibly damaging	Het
Mip	T	C	10: 128,061,772 (GRCm39)	S8P	possibly damaging	Het
Mllt6	T	C	11: 97,568,048 (GRCm39)	S826P	probably damaging	Het
Mlst8	AT	ATT	17: 24,696,987 (GRCm39)		probably null	Het
Myrfl	C	T	10: 116,658,716 (GRCm39)	V414I	probably benign	Het
Nbeal1	T	C	1: 60,273,999 (GRCm39)	V409A	probably damaging	Het
Nin	T	A	12: 70,077,700 (GRCm39)	Q1035L	probably damaging	Het
Nlgn1	T	A	3: 25,490,464 (GRCm39)	D421V	probably damaging	Het
Nlrp10	A	G	7: 108,523,770 (GRCm39)	V570A	probably benign	Het
Olfm3	A	T	3: 114,895,589 (GRCm39)	E157V	probably null	Het
Or8g24	T	A	9: 38,989,580 (GRCm39)	I154F	probably benign	Het
Or8g37	T	C	9: 39,731,363 (GRCm39)	S143P	probably benign	Het
Otud7a	A	G	7: 63,300,624 (GRCm39)	D21G	probably damaging	Het
Pax2	A	G	19: 44,777,271 (GRCm39)	T155A	probably benign	Het
Pcf11	A	T	7: 92,310,546 (GRCm39)	S481T	probably damaging	Het
Prkab2	T	C	3: 97,573,943 (GRCm39)	V194A	probably benign	Het
Prl3a1	G	A	13: 27,454,136 (GRCm39)	G38E	possibly damaging	Het
Psmb8	T	C	17: 34,419,884 (GRCm39)	V246A	probably damaging	Het
Ptpn12	A	T	5: 21,203,308 (GRCm39)	V490E	probably benign	Het
Ptprm	A	T	17: 67,247,575 (GRCm39)	S587T	probably benign	Het
Qars1	G	A	9: 108,390,380 (GRCm39)	R427H	probably benign	Het
R3hdml	T	C	2: 163,340,216 (GRCm39)	F128L	probably benign	Het
Rapgef4	A	G	2: 72,038,471 (GRCm39)	M541V	probably benign	Het
Rhbdf1	G	A	11: 32,164,277 (GRCm39)	R234*	probably null	Het
Rufy1	A	T	11: 50,297,233 (GRCm39)	D406E	probably benign	Het
Satb1	A	T	17: 52,047,173 (GRCm39)	L683Q	probably damaging	Het
Satb2	T	C	1: 56,938,229 (GRCm39)	T132A	probably damaging	Het
Sbspon	A	G	1: 15,930,519 (GRCm39)	S156P	probably damaging	Het
Shb	A	T	4: 45,458,347 (GRCm39)		probably null	Het
She	A	G	3: 89,756,792 (GRCm39)	K282R	possibly damaging	Het
Slc25a13	A	G	6: 6,152,482 (GRCm39)	L85P	probably damaging	Het
Slc7a13	A	T	4: 19,841,578 (GRCm39)	H475L	probably benign	Het
Sorl1	C	T	9: 41,957,920 (GRCm39)	V575I	probably benign	Het
Spag9	T	A	11: 93,988,184 (GRCm39)	C833S	possibly damaging	Het
Speer2	A	C	16: 69,654,052 (GRCm39)	N232K	probably damaging	Het
Sytl3	A	C	17: 6,995,732 (GRCm39)	T171P	probably damaging	Het
Taar7f	T	A	10: 23,925,747 (GRCm39)	Y114N	probably damaging	Het
Tamalin	T	C	15: 101,122,381 (GRCm39)	Y67H	probably benign	Het
Tap1	C	G	17: 34,412,481 (GRCm39)	P506R	probably damaging	Het
Tle6	T	C	10: 81,431,319 (GRCm39)	D212G	possibly damaging	Het
Trim80	G	T	11: 115,332,155 (GRCm39)	E116*	probably null	Het
Ttll4	A	G	1: 74,726,718 (GRCm39)	R745G	probably damaging	Het
Vdac2	A	T	14: 21,887,947 (GRCm39)	I85F	possibly damaging	Het
Vmn1r188	A	G	13: 22,272,309 (GRCm39)	R88G	probably damaging	Het
Washc2	T	C	6: 116,232,052 (GRCm39)	S821P	possibly damaging	Het
Wdhd1	T	C	14: 47,507,647 (GRCm39)	Y213C	probably damaging	Het
Wdr55	C	A	18: 36,893,437 (GRCm39)	P33Q	probably damaging	Het
Yrdc	C	T	4: 124,745,739 (GRCm39)	A32V	probably benign	Het
Zfp608	T	A	18: 55,030,851 (GRCm39)	K1030*	probably null	Het
Zfp618	T	A	4: 63,050,555 (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
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
R4770:Syncrip	UTSW	9	88,361,905 (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'- GGGATCTTTGGAAGCCACATC -3'
(R):5'- TTCTGTTGGCACTGAGGTAAAG -3'

Sequencing Primer
(F):5'- TTCCCAAAGCCAGATGCATTAACTAG -3'
(R):5'- TGAGGATGAGCTTGTTCC -3'

Posted On

2014-08-01