Mutagenetix > Incidental Mutation

Incidental Mutation 'R1500:Syncrip'

169190

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

039551-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.696) question?

Stock #

R1500 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88331417-88364645 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 88361949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 55 (S55R)

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

possibly damaging
Transcript: ENSMUST00000069221
AA Change: S55R

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000063744
Gene: ENSMUSG00000032423
AA Change: S55R

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

possibly damaging
Transcript: ENSMUST00000172508
AA Change: S55R

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000172828

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173405
AA Change: S55R

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133343
Gene: ENSMUSG00000032423
AA Change: S55R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173801
AA Change: S55R

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133649
Gene: ENSMUSG00000032423
AA Change: S55R

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

possibly damaging
Transcript: ENSMUST00000174269
AA Change: S55R

PolyPhen 2 Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134506
Gene: ENSMUSG00000032423
AA Change: S55R

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

possibly damaging
Transcript: ENSMUST00000174282
AA Change: S55R

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134071
Gene: ENSMUSG00000032423
AA Change: S55R

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: ENSMUST00000174361
AA Change: S55R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134722
Gene: ENSMUSG00000032423
AA Change: S55R

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: S55R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133716
Gene: ENSMUSG00000032423
AA Change: S55R

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

0.0817

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 87.1%

Validation Efficiency

95% (81/85)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	A	G	17: 31,330,253 (GRCm39)	D518G	probably benign	Het
Acaca	T	A	11: 84,184,810 (GRCm39)	D96E	probably benign	Het
Actbl2	G	A	13: 111,391,854 (GRCm39)	R63Q	probably damaging	Het
Adamts6	T	A	13: 104,449,389 (GRCm39)	H266Q	probably damaging	Het
Aff4	T	C	11: 53,263,205 (GRCm39)	V75A	probably benign	Het
Ank2	A	G	3: 126,726,631 (GRCm39)	S888P	probably benign	Het
Ano7	T	C	1: 93,325,050 (GRCm39)	F534S	probably damaging	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Bcam	T	A	7: 19,492,889 (GRCm39)	D484V	possibly damaging	Het
Bltp2	C	A	11: 78,174,958 (GRCm39)	Q1698K	possibly damaging	Het
Ccdc88a	T	C	11: 29,432,713 (GRCm39)	Y1240H	probably benign	Het
Cfh	T	C	1: 140,028,614 (GRCm39)	Y500C	probably damaging	Het
Chd1l	G	A	3: 97,490,121 (GRCm39)	A478V	probably benign	Het
Dnah1	T	C	14: 31,038,715 (GRCm39)	D122G	probably benign	Het
Dnah11	A	T	12: 117,976,564 (GRCm39)		probably null	Het
Dnah17	T	C	11: 117,991,879 (GRCm39)	K1230E	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
E330020D12Rik	A	T	1: 153,284,125 (GRCm39)		noncoding transcript	Het
Ece2	T	C	16: 20,462,992 (GRCm39)	L639P	probably damaging	Het
Epha3	A	T	16: 63,416,025 (GRCm39)	V658E	probably benign	Het
Erbb2	C	T	11: 98,319,804 (GRCm39)	T632I	probably damaging	Het
Erc2	A	G	14: 27,993,617 (GRCm39)	T883A	probably damaging	Het
Extl2	T	C	3: 115,820,789 (GRCm39)	V198A	probably benign	Het
Fktn	G	T	4: 53,735,065 (GRCm39)	M234I	probably benign	Het
Ggt7	A	G	2: 155,340,966 (GRCm39)	S400P	probably benign	Het
Gldc	A	C	19: 30,091,225 (GRCm39)	V790G	possibly damaging	Het
Gm14496	A	C	2: 181,633,026 (GRCm39)	Q3P	probably benign	Het
H2-D1	G	A	17: 35,482,564 (GRCm39)	E95K	probably benign	Het
Ikzf3	T	C	11: 98,409,521 (GRCm39)	E14G	probably benign	Het
Jag1	A	T	2: 136,957,558 (GRCm39)	N51K	possibly damaging	Het
Khdrbs3	A	G	15: 68,800,635 (GRCm39)	D14G	possibly damaging	Het
Krt84	A	G	15: 101,438,659 (GRCm39)	V276A	probably damaging	Het
Lamb1	T	C	12: 31,348,948 (GRCm39)	I660T	possibly damaging	Het
Lcmt2	A	T	2: 120,970,488 (GRCm39)	S198R	probably benign	Het
Lcn6	G	A	2: 25,567,131 (GRCm39)	R44H	probably benign	Het
Lrfn5	A	T	12: 61,886,527 (GRCm39)	H105L	probably damaging	Het
Lrit1	G	A	14: 36,784,091 (GRCm39)	R473K	probably benign	Het
Marchf1	A	G	8: 66,921,042 (GRCm39)	T495A	probably damaging	Het
Marveld3	T	G	8: 110,675,174 (GRCm39)		probably null	Het
Mbd3	T	C	10: 80,230,420 (GRCm39)	D160G	possibly damaging	Het
Mrc2	T	G	11: 105,238,551 (GRCm39)	C1233G	probably damaging	Het
Ms4a13	T	G	19: 11,161,225 (GRCm39)	T105P	probably damaging	Het
Mtbp	T	C	15: 55,480,951 (GRCm39)	Y306H	probably damaging	Het
Muc3a	T	C	5: 137,244,958 (GRCm39)		probably benign	Het
Myo1g	T	A	11: 6,470,811 (GRCm39)	Y15F	probably benign	Het
Nae1	A	T	8: 105,250,216 (GRCm39)	Y226N	probably benign	Het
Nlrp9a	A	G	7: 26,267,316 (GRCm39)	S715G	probably benign	Het
Or1j10	A	T	2: 36,267,633 (GRCm39)	M282L	probably benign	Het
Or2ag17	T	C	7: 106,390,028 (GRCm39)	Y60C	probably damaging	Het
Or4s2b	T	A	2: 88,508,219 (GRCm39)	S7T	possibly damaging	Het
Or7g26	A	T	9: 19,230,612 (GRCm39)	S267C	probably damaging	Het
Or8g55	G	T	9: 39,784,707 (GRCm39)	M45I	probably benign	Het
Pex5l	T	C	3: 33,069,129 (GRCm39)	T123A	probably damaging	Het
Pip5kl1	A	T	2: 32,466,691 (GRCm39)	N62I	probably benign	Het
Pkhd1l1	T	C	15: 44,408,890 (GRCm39)	V2459A	probably damaging	Het
Prb1a	T	A	6: 132,184,439 (GRCm39)	Q398L	unknown	Het
Prkab2	T	C	3: 97,571,263 (GRCm39)	L165S	probably damaging	Het
Prl3d2	C	G	13: 27,305,689 (GRCm39)		probably benign	Het
Ptdss1	G	A	13: 67,143,472 (GRCm39)	G435D	probably benign	Het
Qrfpr	A	G	3: 36,236,729 (GRCm39)	L224P	probably damaging	Het
Rasl2-9	C	T	7: 5,128,441 (GRCm39)	W163*	probably null	Het
Rgs5	A	G	1: 169,517,983 (GRCm39)		probably null	Het
Rnf19b	T	C	4: 128,972,754 (GRCm39)	L255P	probably damaging	Het
Rp9	A	C	9: 22,368,751 (GRCm39)	N69K	probably damaging	Het
Sh3bp4	G	T	1: 89,073,210 (GRCm39)	S686I	probably damaging	Het
Shfl	AGAGGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGAGGA	9: 20,785,013 (GRCm39)		probably benign	Het
Spp2	C	A	1: 88,340,015 (GRCm39)	Q5K	possibly damaging	Het
Svep1	C	T	4: 58,070,239 (GRCm39)	G2516R	probably damaging	Het
Tacc3	T	C	5: 33,818,652 (GRCm39)	L29P	probably damaging	Het
Tex15	A	G	8: 34,065,120 (GRCm39)	T1517A	probably damaging	Het
Tmem140	A	G	6: 34,849,660 (GRCm39)	M59V	probably benign	Het
Ttn	G	T	2: 76,575,872 (GRCm39)	A25007E	probably damaging	Het
Ubr2	T	C	17: 47,297,615 (GRCm39)	T253A	possibly damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Usp38	A	G	8: 81,722,399 (GRCm39)	L374P	probably damaging	Het
Vmn1r42	T	A	6: 89,822,483 (GRCm39)	I29L	probably benign	Het
Vmn2r94	C	T	17: 18,477,242 (GRCm39)	V390M	probably benign	Het
Vmp1	A	G	11: 86,552,026 (GRCm39)	Y113H	possibly damaging	Het
Wdr20	T	C	12: 110,760,464 (GRCm39)	M450T	probably benign	Het
Ylpm1	T	C	12: 85,061,770 (GRCm39)	V557A	unknown	Het
Zpld1	T	C	16: 55,053,935 (GRCm39)	N286D	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
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
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'- AGAGTCTGCTACTTTGGTCCCCTG -3'
(R):5'- AAATGTTGAGAGGAGCCCATGTGAC -3'

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

Posted On

2014-04-13