Mutagenetix > Incidental Mutation

Incidental Mutation 'R1637:Cysrt1'

173222

Institutional Source

Beutler Lab

Gene Symbol

Cysrt1

Ensembl Gene

ENSMUSG00000036731

Gene Name

cysteine rich tail 1

Synonyms

2310002J15Rik

MMRRC Submission

039673-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R1637 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25128831-25129876 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25129297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 72 (I72V)

Ref Sequence

ENSEMBL: ENSMUSP00000140416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006638] [ENSMUST00000043379] [ENSMUST00000060818] [ENSMUST00000091318] [ENSMUST00000114355] [ENSMUST00000114356] [ENSMUST00000186719] [ENSMUST00000205192] [ENSMUST00000154498]

AlphaFold

Q9D1E4

Predicted Effect

probably benign
Transcript: ENSMUST00000006638

SMART Domains

Protein: ENSMUSP00000006638
Gene: ENSMUSG00000006469

Domain	Start	End	E-Value	Type
Pfam:Na_Pi_cotrans	84	231	1.8e-25	PFAM
low complexity region	254	269	N/A	INTRINSIC
Pfam:Na_Pi_cotrans	337	538	1.1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000043379
AA Change: I72V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000045363
Gene: ENSMUSG00000036731
AA Change: I72V

Domain	Start	End	E-Value	Type
Pfam:DUF2477	1	141	2.2e-92	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000060818

SMART Domains

Protein: ENSMUSP00000057742
Gene: ENSMUSG00000044628

Domain	Start	End	E-Value	Type
low complexity region	45	63	N/A	INTRINSIC
low complexity region	126	138	N/A	INTRINSIC
RING	147	193	1.11e-2	SMART
low complexity region	227	238	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000091318

SMART Domains

Protein: ENSMUSP00000088868
Gene: ENSMUSG00000089953

Domain	Start	End	E-Value	Type
RING	23	69	8.23e-6	SMART
low complexity region	137	148	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000091318

SMART Domains

Protein: ENSMUSP00000145470
Gene: ENSMUSG00000089953

Domain	Start	End	E-Value	Type
RING	23	69	8.23e-6	SMART
low complexity region	137	148	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114355

SMART Domains

Protein: ENSMUSP00000109995
Gene: ENSMUSG00000044628

Domain	Start	End	E-Value	Type
low complexity region	45	63	N/A	INTRINSIC
low complexity region	126	138	N/A	INTRINSIC
RING	147	193	1.11e-2	SMART
low complexity region	227	238	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114356
AA Change: I72V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000109996
Gene: ENSMUSG00000036731
AA Change: I72V

Domain	Start	End	E-Value	Type
Pfam:DUF2477	1	141	2.3e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186719
AA Change: I72V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000140416
Gene: ENSMUSG00000036731
AA Change: I72V

Domain	Start	End	E-Value	Type
Pfam:DUF2477	1	141	2.2e-92	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205192

SMART Domains

Protein: ENSMUSP00000145127
Gene: ENSMUSG00000089953

Domain	Start	End	E-Value	Type
RING	23	69	8.23e-6	SMART
low complexity region	137	148	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154498

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	A	5: 109,886,858 (GRCm39)	H50L	probably benign	Het
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Agpat5	A	G	8: 18,931,827 (GRCm39)	R316G	probably benign	Het
Ankrd39	G	A	1: 36,578,573 (GRCm39)	Q151*	probably null	Het
Arl13b	T	C	16: 62,651,147 (GRCm39)	D30G	probably damaging	Het
Atpaf1	A	G	4: 115,645,499 (GRCm39)	S123G	probably benign	Het
Bicra	A	G	7: 15,706,614 (GRCm39)	S1276P	probably benign	Het
Car1	T	C	3: 14,842,846 (GRCm39)	I60V	possibly damaging	Het
Cnbd2	A	G	2: 156,215,644 (GRCm39)	I411V	probably damaging	Het
Cyp2c37	A	T	19: 39,990,426 (GRCm39)	K375*	probably null	Het
Dock9	T	A	14: 121,889,187 (GRCm39)	D312V	possibly damaging	Het
Ecd	T	C	14: 20,396,760 (GRCm39)	I42V	probably damaging	Het
Ercc5	A	G	1: 44,206,694 (GRCm39)	T536A	probably benign	Het
Gjd2	A	T	2: 113,841,789 (GRCm39)	Y229*	probably null	Het
Gramd1b	A	T	9: 40,215,834 (GRCm39)		probably null	Het
Hcrtr2	T	C	9: 76,140,281 (GRCm39)	T336A	probably benign	Het
Hjurp	G	A	1: 88,193,843 (GRCm39)	S279F	probably benign	Het
Ift140	C	T	17: 25,244,608 (GRCm39)	L152F	probably benign	Het
Izumo1r	A	G	9: 14,813,105 (GRCm39)	C56R	probably damaging	Het
Kif7	T	C	7: 79,352,585 (GRCm39)	E850G	probably damaging	Het
Larp4b	C	G	13: 9,201,133 (GRCm39)	T335S	probably benign	Het
Lmo7	A	T	14: 102,118,268 (GRCm39)	R42S	probably damaging	Het
Lrrk2	T	G	15: 91,618,261 (GRCm39)	L920R	probably benign	Het
Mapk8	G	A	14: 33,132,919 (GRCm39)	R6C	probably benign	Het
Mpped1	C	T	15: 83,676,191 (GRCm39)		probably benign	Het
Myoc	A	G	1: 162,466,936 (GRCm39)	Y35C	probably damaging	Het
Ndufb8	C	T	19: 44,543,474 (GRCm39)	M66I	probably benign	Het
Nkpd1	T	C	7: 19,257,904 (GRCm39)	I411T	probably benign	Het
Nrxn3	A	G	12: 89,321,238 (GRCm39)	N382S	possibly damaging	Het
Or2t47	A	T	11: 58,442,246 (GRCm39)	V273E	possibly damaging	Het
Or4c114	A	T	2: 88,905,396 (GRCm39)	L13Q	probably damaging	Het
Pear1	T	C	3: 87,664,060 (GRCm39)	E303G	probably damaging	Het
Plekhg4	T	A	8: 106,108,413 (GRCm39)	M1047K	probably benign	Het
Pofut1	T	G	2: 153,107,709 (GRCm39)	F268C	probably damaging	Het
Psrc1	G	T	3: 108,292,609 (GRCm39)	S134I	probably damaging	Het
Slc6a2	A	T	8: 93,708,618 (GRCm39)	I245F	probably benign	Het
Slc9a1	T	C	4: 133,149,534 (GRCm39)	S787P	probably benign	Het
Sorcs3	T	A	19: 48,736,798 (GRCm39)		probably null	Het
Syne2	C	A	12: 76,042,776 (GRCm39)	H3916N	probably damaging	Het
Taar6	A	G	10: 23,861,079 (GRCm39)	S156P	probably benign	Het
Tnn	A	G	1: 159,975,170 (GRCm39)	F86L	probably damaging	Het
Tspear	T	A	10: 77,706,253 (GRCm39)	L341H	possibly damaging	Het
Ttll8	A	G	15: 88,798,647 (GRCm39)	V696A	probably benign	Het
Utrn	C	A	10: 12,312,108 (GRCm39)	D616Y	probably damaging	Het
Vmn2r18	A	T	5: 151,508,222 (GRCm39)	C301S	probably damaging	Het
Xdh	T	C	17: 74,207,573 (GRCm39)	Y928C	probably benign	Het
Zfand1	G	A	3: 10,411,042 (GRCm39)	A104V	probably benign	Het

Other mutations in Cysrt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Cysrt1	APN	2	25,129,513 (GRCm39)	unclassified	probably benign
IGL02420:Cysrt1	APN	2	25,129,360 (GRCm39)	missense	probably benign
R5113:Cysrt1	UTSW	2	25,129,363 (GRCm39)	missense	possibly damaging	0.71
R7455:Cysrt1	UTSW	2	25,129,422 (GRCm39)	missense	probably benign	0.00
R7684:Cysrt1	UTSW	2	25,129,094 (GRCm39)	nonsense	probably null
R7771:Cysrt1	UTSW	2	25,129,237 (GRCm39)	missense	probably benign	0.32
R8687:Cysrt1	UTSW	2	25,129,399 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- TGCACAGCCCTGGAGGTTCAATAG -3'
(R):5'- ATGCCCACATCAGCATTCCTCG -3'

Sequencing Primer
(F):5'- acaacggcagaagcgag -3'
(R):5'- AGCATTCCTCGGGCTCAC -3'

Posted On

2014-04-24