Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02420:Cysrt1'

292633

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cysrt1

Ensembl Gene

ENSMUSG00000036731

Gene Name

cysteine rich tail 1

Synonyms

2310002J15Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02420

Quality Score

Status

Chromosome

Chromosomal Location

25128831-25129876 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25129360 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 51 (I51V)

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: I51V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045363
Gene: ENSMUSG00000036731
AA Change: I51V

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: I51V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109996
Gene: ENSMUSG00000036731
AA Change: I51V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000186719
AA Change: I51V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140416
Gene: ENSMUSG00000036731
AA Change: I51V

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,187,494 (GRCm39)	N136S	probably damaging	Het
Adcy8	A	G	15: 64,659,303 (GRCm39)	S496P	probably damaging	Het
Agbl3	T	A	6: 34,762,242 (GRCm39)	S81T	possibly damaging	Het
Apobec1	A	T	6: 122,558,531 (GRCm39)	Y75N	probably benign	Het
Asic2	A	G	11: 80,772,479 (GRCm39)	L517P	probably benign	Het
Atp8a1	A	G	5: 67,840,126 (GRCm39)	S752P	probably damaging	Het
Blm	T	C	7: 80,145,754 (GRCm39)	Y775C	probably damaging	Het
C1qtnf5	T	C	9: 44,019,901 (GRCm39)	I175T	probably benign	Het
Ccdc81	G	A	7: 89,524,946 (GRCm39)	T545I	probably benign	Het
Ccdc88b	T	C	19: 6,834,317 (GRCm39)	E174G	probably damaging	Het
Chl1	G	A	6: 103,692,330 (GRCm39)	V1066M	probably damaging	Het
Cntn6	T	A	6: 104,823,103 (GRCm39)		probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyren	T	C	6: 34,851,404 (GRCm39)	Y150C	probably damaging	Het
Dnah7a	T	C	1: 53,725,702 (GRCm39)	N69S	probably benign	Het
Fam83d	T	C	2: 158,627,655 (GRCm39)	L448P	probably benign	Het
Gm9631	G	A	11: 121,834,478 (GRCm39)			Het
Hmcn1	T	C	1: 150,598,175 (GRCm39)	Y1709C	probably damaging	Het
Inppl1	G	A	7: 101,481,526 (GRCm39)		probably benign	Het
Iqcc	T	C	4: 129,510,748 (GRCm39)	T256A	probably benign	Het
Itprid2	T	C	2: 79,465,986 (GRCm39)	S35P	probably damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Lyz1	A	T	10: 117,124,535 (GRCm39)	C134S	probably damaging	Het
Mpzl3	T	C	9: 44,977,815 (GRCm39)	I141T	possibly damaging	Het
Mterf1a	T	C	5: 3,941,047 (GRCm39)	N274D	probably damaging	Het
Myo18a	T	A	11: 77,709,519 (GRCm39)	V543D	possibly damaging	Het
Myo18b	A	T	5: 112,975,852 (GRCm39)	D1332E	possibly damaging	Het
Or2r11	A	G	6: 42,437,110 (GRCm39)	V281A	probably benign	Het
Pcdh15	A	T	10: 74,138,938 (GRCm39)	D333V	probably damaging	Het
Plekha7	A	G	7: 115,757,469 (GRCm39)	Y494H	probably damaging	Het
Plekhg1	A	G	10: 3,914,106 (GRCm39)	N1276S	probably damaging	Het
Ppig	T	C	2: 69,562,571 (GRCm39)	V5A	probably benign	Het
Prag1	A	T	8: 36,614,580 (GRCm39)		probably benign	Het
Prom1	T	C	5: 44,220,496 (GRCm39)	N84S	probably benign	Het
Ptprh	T	A	7: 4,583,929 (GRCm39)	Y221F	probably damaging	Het
Qsox2	A	G	2: 26,110,731 (GRCm39)	Y162H	probably benign	Het
Rab2a	C	T	4: 8,572,553 (GRCm39)	T49M	possibly damaging	Het
Ring1	A	G	17: 34,242,122 (GRCm39)	S96P	possibly damaging	Het
Ripk3	A	G	14: 56,022,691 (GRCm39)	F411S	probably benign	Het
Rock1	T	C	18: 10,070,619 (GRCm39)		probably null	Het
Rtn4rl1	A	G	11: 75,156,645 (GRCm39)	N359S	probably damaging	Het
Sufu	A	G	19: 46,413,481 (GRCm39)	T76A	probably damaging	Het
Sugct	C	A	13: 17,627,053 (GRCm39)	V267F	probably damaging	Het
Tcf4	A	T	18: 69,697,210 (GRCm39)	R29W	probably damaging	Het
Tnfsf18	A	T	1: 161,331,158 (GRCm39)	I103L	probably benign	Het
Vwf	A	G	6: 125,654,879 (GRCm39)	E2525G	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
R1637:Cysrt1	UTSW	2	25,129,297 (GRCm39)	missense	probably benign	0.01
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

Posted On

2015-04-16