Mutagenetix > Incidental Mutation

Incidental Mutation 'R0463:Csrnp1'

66833

Institutional Source

Beutler Lab

Gene Symbol

Csrnp1

Ensembl Gene

ENSMUSG00000032515

Gene Name

cysteine-serine-rich nuclear protein 1

Synonyms

taip-3, Axud1, 4931429D10Rik, CSRNP-1

MMRRC Submission

038663-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0463 (G1)

Quality Score

119

Status

Not validated

Chromosome

Chromosomal Location

119800229-119813724 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

CCCTCCTCCTCCTCCTCCTC to CCCTCCTCCTCCTCCTC at 119801841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149661 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035100] [ENSMUST00000035101] [ENSMUST00000177637] [ENSMUST00000213936] [ENSMUST00000214058] [ENSMUST00000215916] [ENSMUST00000216929]

AlphaFold

P59054

Predicted Effect

probably benign
Transcript: ENSMUST00000035100

SMART Domains

Protein: ENSMUSP00000035100
Gene: ENSMUSG00000032514

Domain	Start	End	E-Value	Type
low complexity region	107	118	N/A	INTRINSIC
Blast:TPR	214	247	6e-11	BLAST
TPR	326	359	4.55e1	SMART
TPR	494	527	1.97e1	SMART
Blast:TPR	528	561	1e-14	BLAST
TPR	565	598	2.63e1	SMART
Blast:TPR	617	649	6e-11	BLAST
TPR	721	754	1.33e0	SMART
TPR	755	788	4.84e-3	SMART
TPR	790	821	1.14e1	SMART
TPR	883	916	9.03e-3	SMART
low complexity region	921	935	N/A	INTRINSIC
TPR	951	984	1.08e1	SMART
Blast:TPR	1022	1054	3e-12	BLAST
low complexity region	1117	1129	N/A	INTRINSIC
TPR	1195	1228	2.22e-2	SMART
TPR	1264	1297	9.73e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000035101

SMART Domains

Protein: ENSMUSP00000035101
Gene: ENSMUSG00000032515

Domain	Start	End	E-Value	Type
low complexity region	17	41	N/A	INTRINSIC
Pfam:CSRNP_N	79	304	1.6e-93	PFAM
low complexity region	327	361	N/A	INTRINSIC
low complexity region	398	410	N/A	INTRINSIC
low complexity region	463	482	N/A	INTRINSIC
low complexity region	487	499	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177637

SMART Domains

Protein: ENSMUSP00000136413
Gene: ENSMUSG00000052336

Domain	Start	End	E-Value	Type
Pfam:7tm_1	49	294	3.5e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213936

Predicted Effect

probably benign
Transcript: ENSMUST00000214058

Predicted Effect

probably benign
Transcript: ENSMUST00000215916

Predicted Effect

probably benign
Transcript: ENSMUST00000216929

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that localizes to the nucleus and expression of this gene is induced in response to elevated levels of axin. The Wnt signalling pathway, which is negatively regulated by axin, is important in axis formation in early development and impaired regulation of this signalling pathway is often involved in tumors. A decreased level of expression of this gene in tumors compared to the level of expression in their corresponding normal tissues suggests that this gene product has a tumor suppressor function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit postnatal lethality and skeletal and craniofacial defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,884,926 (GRCm39)		probably benign	Het
Abcd2	C	T	15: 91,043,327 (GRCm39)	M620I	probably benign	Het
Ada	T	A	2: 163,572,271 (GRCm39)	I243F	probably benign	Het
Adam12	T	C	7: 133,576,145 (GRCm39)		probably null	Het
Adarb2	A	T	13: 8,253,224 (GRCm39)		probably benign	Het
Adk	A	C	14: 21,473,604 (GRCm39)	Q287P	probably benign	Het
Ahnak	A	G	19: 8,986,771 (GRCm39)		probably benign	Het
Aoc3	C	T	11: 101,222,432 (GRCm39)	R223W	probably damaging	Het
Aqp11	T	C	7: 97,378,228 (GRCm39)	D229G	probably benign	Het
Arhgap28	A	G	17: 68,203,220 (GRCm39)	S78P	probably damaging	Het
Bfsp2	T	A	9: 103,303,854 (GRCm39)	E383D	possibly damaging	Het
Bmpr1b	A	T	3: 141,563,191 (GRCm39)	V251D	possibly damaging	Het
Calhm1	C	T	19: 47,132,280 (GRCm39)	V112I	probably benign	Het
Catsperd	A	G	17: 56,966,554 (GRCm39)	D508G	probably damaging	Het
Cfap54	A	G	10: 92,710,805 (GRCm39)		probably null	Het
Cfap70	A	T	14: 20,498,631 (GRCm39)	Y19N	probably damaging	Het
Chga	A	T	12: 102,529,210 (GRCm39)	R396*	probably null	Het
Cntnap3	T	C	13: 64,926,690 (GRCm39)	E560G	probably damaging	Het
Csmd1	T	C	8: 15,971,759 (GRCm39)	T3024A	probably damaging	Het
Cysltr1	A	G	X: 105,622,261 (GRCm39)	V75A	possibly damaging	Het
Dnaaf11	T	A	15: 66,252,323 (GRCm39)	M448L	probably benign	Het
Dnah2	A	T	11: 69,313,952 (GRCm39)	M4140K	probably damaging	Het
Dph5	A	G	3: 115,722,352 (GRCm39)	S277G	probably benign	Het
Eftud2	A	T	11: 102,755,597 (GRCm39)	D203E	probably damaging	Het
Egf	A	G	3: 129,499,882 (GRCm39)	Y252H	probably benign	Het
Egf	A	G	3: 129,531,198 (GRCm39)	S126P	probably damaging	Het
Faf1	C	T	4: 109,748,138 (GRCm39)	A481V	probably benign	Het
Fat2	A	T	11: 55,153,655 (GRCm39)	V3519D	probably damaging	Het
Fbln7	C	A	2: 128,719,431 (GRCm39)	A76E	probably benign	Het
Galnt1	A	T	18: 24,387,582 (GRCm39)	K49N	probably benign	Het
Glb1	ACCC	ACC	9: 114,250,812 (GRCm39)		probably null	Het
Grk1	T	C	8: 13,459,279 (GRCm39)	Y277H	probably damaging	Het
Hap1	A	G	11: 100,240,131 (GRCm39)	L555P	probably damaging	Het
Ier3	T	C	17: 36,133,000 (GRCm39)	I94T	possibly damaging	Het
Il11	T	C	7: 4,779,023 (GRCm39)	T36A	probably damaging	Het
Il5ra	A	T	6: 106,708,851 (GRCm39)	D296E	probably damaging	Het
Itk	A	T	11: 46,222,816 (GRCm39)	V551E	probably damaging	Het
Kcna2	T	A	3: 107,012,476 (GRCm39)	D352E	probably benign	Het
Kif5a	A	T	10: 127,071,521 (GRCm39)	S776T	probably benign	Het
Klrb1c	T	C	6: 128,757,366 (GRCm39)	E233G	probably benign	Het
Kpna7	T	C	5: 144,944,804 (GRCm39)	K12R	possibly damaging	Het
Lhpp	C	T	7: 132,212,406 (GRCm39)		probably benign	Het
Lhx8	A	T	3: 154,033,808 (GRCm39)		probably null	Het
Magel2	T	A	7: 62,027,778 (GRCm39)	H227Q	possibly damaging	Het
Man1a	A	G	10: 53,950,594 (GRCm39)	V176A	probably damaging	Het
Mapkbp1	T	A	2: 119,853,632 (GRCm39)	M1152K	probably benign	Het
Mcoln3	T	A	3: 145,846,331 (GRCm39)	L547*	probably null	Het
Myof	T	C	19: 37,904,952 (GRCm39)	D1624G	probably damaging	Het
Myom2	T	C	8: 15,154,123 (GRCm39)	V687A	probably benign	Het
Nav1	C	A	1: 135,379,945 (GRCm39)	V1586F	possibly damaging	Het
Ndufb8	T	C	19: 44,538,784 (GRCm39)	E179G	possibly damaging	Het
Nfam1	T	C	15: 82,885,684 (GRCm39)	T223A	probably damaging	Het
Nrcam	T	A	12: 44,598,124 (GRCm39)	V371E	probably damaging	Het
Nup210l	A	G	3: 90,087,518 (GRCm39)	Q1097R	probably null	Het
Obox5	T	A	7: 15,491,571 (GRCm39)	M37K	probably damaging	Het
Obscn	A	T	11: 58,952,356 (GRCm39)	N4270K	probably benign	Het
Or4d2	G	A	11: 87,784,022 (GRCm39)	H243Y	probably damaging	Het
Or5ak25	T	A	2: 85,268,630 (GRCm39)	S291C	probably damaging	Het
Or6c1	A	G	10: 129,517,708 (GRCm39)	M300T	probably benign	Het
Or8c15	G	A	9: 38,120,360 (GRCm39)	A2T	probably benign	Het
Or8k16	T	C	2: 85,520,183 (GRCm39)	S137P	possibly damaging	Het
Patj	G	A	4: 98,562,545 (GRCm39)	E1505K	probably damaging	Het
Pnliprp1	T	A	19: 58,726,628 (GRCm39)	Y328*	probably null	Het
Ppp1r36	G	A	12: 76,465,741 (GRCm39)	E43K	probably damaging	Het
Ptch1	C	T	13: 63,668,121 (GRCm39)	V939I	probably damaging	Het
Rgs22	C	A	15: 36,093,084 (GRCm39)	K396N	probably damaging	Het
Rsrc1	A	T	3: 67,088,194 (GRCm39)	H176L	probably damaging	Het
Ryr3	A	T	2: 112,492,046 (GRCm39)	F3743L	probably damaging	Het
Scn7a	C	T	2: 66,506,084 (GRCm39)	G1602R	probably benign	Het
Sftpc	A	T	14: 70,760,110 (GRCm39)	V49E	probably damaging	Het
Slc16a10	A	G	10: 39,916,612 (GRCm39)	V430A	probably benign	Het
Slco4c1	A	C	1: 96,795,645 (GRCm39)	S138A	possibly damaging	Het
Snd1	T	C	6: 28,724,955 (GRCm39)	I501T	probably benign	Het
Stxbp2	T	A	8: 3,682,559 (GRCm39)	D49E	probably damaging	Het
Sytl4	A	T	X: 132,862,936 (GRCm39)	D16E	probably benign	Het
Tbc1d9b	G	A	11: 50,035,894 (GRCm39)	G130E	probably benign	Het
Tdrd6	T	A	17: 43,936,452 (GRCm39)	D1532V	probably damaging	Het
Tekt1	T	C	11: 72,242,778 (GRCm39)	D243G	probably damaging	Het
Tet2	A	G	3: 133,192,427 (GRCm39)	L669S	possibly damaging	Het
Tnnt3	A	G	7: 142,066,072 (GRCm39)	N201S	probably benign	Het
Trdn	A	G	10: 33,342,417 (GRCm39)		probably null	Het
Trim36	T	C	18: 46,311,523 (GRCm39)	E259G	possibly damaging	Het
Trpm1	C	T	7: 63,870,002 (GRCm39)	P436S	probably benign	Het
Vmn1r183	T	A	7: 23,754,926 (GRCm39)	L243Q	probably damaging	Het
Vps13b	T	C	15: 35,597,555 (GRCm39)	S1032P	probably damaging	Het
Vps37d	T	C	5: 135,105,395 (GRCm39)	E76G	probably damaging	Het
Vps72	A	G	3: 95,028,615 (GRCm39)	H202R	probably benign	Het
Wdr75	T	C	1: 45,858,762 (GRCm39)	S644P	probably damaging	Het
Wrn	T	A	8: 33,770,843 (GRCm39)	E697V	possibly damaging	Het
Xirp2	A	G	2: 67,345,262 (GRCm39)	D2501G	probably benign	Het
Zfp472	T	C	17: 33,194,936 (GRCm39)	W24R	probably damaging	Het
Zmym6	T	C	4: 127,016,565 (GRCm39)	V782A	probably damaging	Het

Other mutations in Csrnp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01459:Csrnp1	APN	9	119,802,024 (GRCm39)	missense	probably damaging	1.00
IGL02348:Csrnp1	APN	9	119,801,709 (GRCm39)	missense	probably damaging	1.00
R1530:Csrnp1	UTSW	9	119,802,612 (GRCm39)	missense	possibly damaging	0.69
R3901:Csrnp1	UTSW	9	119,801,707 (GRCm39)	missense	probably damaging	1.00
R5851:Csrnp1	UTSW	9	119,802,144 (GRCm39)	missense	possibly damaging	0.93
R6101:Csrnp1	UTSW	9	119,802,551 (GRCm39)	missense	probably damaging	0.97
R7621:Csrnp1	UTSW	9	119,806,158 (GRCm39)	missense	probably benign	0.12
R7658:Csrnp1	UTSW	9	119,801,469 (GRCm39)	missense	probably benign
R8122:Csrnp1	UTSW	9	119,802,273 (GRCm39)	missense	probably damaging	1.00
R9322:Csrnp1	UTSW	9	119,801,853 (GRCm39)	missense	probably damaging	1.00
R9352:Csrnp1	UTSW	9	119,801,997 (GRCm39)	missense	probably benign	0.18
R9768:Csrnp1	UTSW	9	119,801,819 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2013-08-19