Mutagenetix > Incidental Mutation

Incidental Mutation 'R8937:Syncrip'

695742

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

068710-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.696) question?

Stock #

R8937 (G1)

Quality Score

213.009

Status

Validated

Chromosome

Chromosomal Location

88331417-88364645 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 88344900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133716 (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

SMART Domains

Protein: ENSMUSP00000063744
Gene: ENSMUSG00000032423

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: ENSMUST00000172828

Predicted Effect

probably benign
Transcript: ENSMUST00000173801

SMART Domains

Protein: ENSMUSP00000133649
Gene: ENSMUSG00000032423

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

probably benign
Transcript: ENSMUST00000174269

SMART Domains

Protein: ENSMUSP00000134506
Gene: ENSMUSG00000032423

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 benign
Transcript: ENSMUST00000174282

SMART Domains

Protein: ENSMUSP00000134071
Gene: ENSMUSG00000032423

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 benign
Transcript: ENSMUST00000174361

SMART Domains

Protein: ENSMUSP00000134722
Gene: ENSMUSG00000032423

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 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

Predicted Effect

probably benign
Transcript: ENSMUST00000174688

SMART Domains

Protein: ENSMUSP00000133716
Gene: ENSMUSG00000032423

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

95% (71/75)

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
4930455H04Rik	C	A	3: 116,762,120 (GRCm39)		probably benign	Het
Actn3	C	T	19: 4,921,798 (GRCm39)		probably null	Het
Akap13	T	A	7: 75,184,601 (GRCm39)		probably null	Het
Akap9	A	T	5: 4,094,048 (GRCm39)	Q2190L	possibly damaging	Het
Ankrd6	A	T	4: 32,823,452 (GRCm39)	V190D	possibly damaging	Het
Atrn	T	A	2: 130,841,157 (GRCm39)	D1186E	probably benign	Het
Bank1	A	T	3: 135,989,934 (GRCm39)	V52E	probably damaging	Het
Blmh	A	G	11: 76,857,883 (GRCm39)	N342D	probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Ces2f	A	G	8: 105,677,669 (GRCm39)	T225A	probably damaging	Het
Clic6	G	T	16: 92,296,245 (GRCm39)	D302Y	probably damaging	Het
Clmn	T	A	12: 104,763,341 (GRCm39)	N95I	probably damaging	Het
Cmya5	A	T	13: 93,232,840 (GRCm39)	F749L	probably benign	Het
Cramp1	A	G	17: 25,202,956 (GRCm39)	F358L	probably damaging	Het
Dhx38	T	C	8: 110,283,098 (GRCm39)	D573G	probably damaging	Het
Dync1h1	T	C	12: 110,584,471 (GRCm39)	Y625H	probably damaging	Het
Enpep	A	G	3: 129,115,007 (GRCm39)		probably null	Het
Fat1	T	C	8: 45,483,350 (GRCm39)	L3146P	probably damaging	Het
Gal3st2b	G	A	1: 93,868,570 (GRCm39)	S265N	probably benign	Het
Glis3	G	A	19: 28,643,266 (GRCm39)	A92V	possibly damaging	Het
Gm266	T	C	12: 111,452,173 (GRCm39)	D11G	probably benign	Het
Hmcn2	A	T	2: 31,204,427 (GRCm39)	M1L	probably benign	Het
Kcnj15	G	A	16: 95,097,548 (GRCm39)		probably benign	Het
Krt27	A	G	11: 99,239,551 (GRCm39)	S310P	probably damaging	Het
Lama2	A	T	10: 26,862,816 (GRCm39)	D2982E	probably damaging	Het
Lrfn3	A	G	7: 30,059,451 (GRCm39)	V258A	probably benign	Het
Lrit3	A	T	3: 129,594,193 (GRCm39)	M128K	probably damaging	Het
Ltbp3	A	G	19: 5,797,512 (GRCm39)	T417A	probably benign	Het
Mettl25	T	C	10: 105,601,122 (GRCm39)	T554A	probably benign	Het
Micall1	A	G	15: 79,011,198 (GRCm39)	S523G	probably damaging	Het
Mmp21	G	A	7: 133,280,700 (GRCm39)	A90V	probably benign	Het
Mon2	T	C	10: 122,895,110 (GRCm39)	N53S	probably benign	Het
Muc15	T	C	2: 110,562,252 (GRCm39)		probably null	Het
Myo15b	A	T	11: 115,773,127 (GRCm39)	M431L	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nt5c3	T	C	6: 56,861,701 (GRCm39)	D195G	probably damaging	Het
Or3a1b	T	A	11: 74,012,874 (GRCm39)	M253K	probably benign	Het
Or52h1	A	G	7: 103,828,949 (GRCm39)	L222P	possibly damaging	Het
Pals1	T	A	12: 78,866,115 (GRCm39)	D313E	probably benign	Het
Pgrmc2	A	G	3: 41,037,125 (GRCm39)	L102P	probably damaging	Het
Plekha1	T	G	7: 130,502,241 (GRCm39)		probably benign	Het
Pramel23	T	C	4: 143,423,562 (GRCm39)	Y409C	probably damaging	Het
Prss59	A	T	6: 40,902,999 (GRCm39)	Y124*	probably null	Het
Ralgapa1	T	G	12: 55,749,345 (GRCm39)	I1233L	probably damaging	Het
Rb1cc1	T	A	1: 6,333,441 (GRCm39)	D68E	probably benign	Het
Rere	C	A	4: 150,699,331 (GRCm39)		probably benign	Het
Rnf213	A	T	11: 119,321,100 (GRCm39)	H1185L	possibly damaging	Het
Robo2	G	T	16: 73,770,150 (GRCm39)	P529T	probably damaging	Het
Robo2	G	A	16: 73,770,149 (GRCm39)	P529L	probably damaging	Het
Shprh	A	G	10: 11,061,181 (GRCm39)	T1165A	possibly damaging	Het
Slc22a26	C	T	19: 7,768,390 (GRCm39)		probably benign	Het
Slc43a1	T	C	2: 84,690,450 (GRCm39)	L456P	probably damaging	Het
Slc5a8	T	C	10: 88,740,885 (GRCm39)	Y267H	probably damaging	Het
Snrnp200	T	C	2: 127,068,902 (GRCm39)	I927T	probably benign	Het
Sorbs1	T	C	19: 40,362,006 (GRCm39)	D156G	probably benign	Het
Sox5	A	T	6: 143,853,169 (GRCm39)	S370T	probably benign	Het
Spen	T	C	4: 141,201,374 (GRCm39)	T2418A	probably damaging	Het
St8sia6	A	T	2: 13,701,705 (GRCm39)	L104H	probably damaging	Het
Stox1	T	A	10: 62,500,430 (GRCm39)	N710I	probably damaging	Het
Syt11	G	A	3: 88,655,051 (GRCm39)	P417S	probably damaging	Het
Taf2	A	T	15: 54,910,849 (GRCm39)	N608K	probably benign	Het
Tfcp2l1	G	A	1: 118,596,447 (GRCm39)	G394E	possibly damaging	Het
Tial1	A	G	7: 128,056,715 (GRCm39)	I13T	probably damaging	Het
Tmem108	T	C	9: 103,361,981 (GRCm39)	D535G	probably benign	Het
Tpp1	T	C	7: 105,396,626 (GRCm39)	M464V	probably benign	Het
Trrap	C	A	5: 144,757,063 (GRCm39)	N2108K	probably damaging	Het
Tspan3	T	C	9: 56,053,883 (GRCm39)	D156G	probably benign	Het
Ttn	C	T	2: 76,592,607 (GRCm39)	V20842I	probably benign	Het
Ubr4	T	A	4: 139,190,886 (GRCm39)	W4078R	probably damaging	Het
Uts2r	G	A	11: 121,051,795 (GRCm39)	V220M	possibly damaging	Het
Vmn2r19	G	A	6: 123,293,283 (GRCm39)		probably null	Het
Vmn2r3	A	T	3: 64,166,673 (GRCm39)	F819L	probably damaging	Het
Wdtc1	T	C	4: 133,031,470 (GRCm39)	Y250C	probably damaging	Het
Zan	T	C	5: 137,393,888 (GRCm39)	H4521R	unknown	Het
Zfp219	A	T	14: 52,244,224 (GRCm39)	C652S	probably damaging	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
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
R9684:Syncrip	UTSW	9	88,361,671 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CGAAGTAAAACTACACACATGTTGG -3'
(R):5'- TCAAAGTCTGGGGAAATGTTGG -3'

Sequencing Primer
(F):5'- AAACTACACACATGTTGGGATTAC -3'
(R):5'- GAACTGTTGAGTGGGCTGATCC -3'

Posted On

2022-01-27