Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02621:Shoc1'

300863

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Shoc1

Ensembl Gene

ENSMUSG00000038598

Gene Name

shortage in chiasmata 1

Synonyms

Mzip2, Gm426, AI481877, LOC242489

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

IGL02621

Quality Score

Status

Chromosome

Chromosomal Location

59043753-59138983 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59062668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 863 (W863R)

Ref Sequence

ENSEMBL: ENSMUSP00000103171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107547]

AlphaFold

A2ALV5

Predicted Effect

probably damaging
Transcript: ENSMUST00000107547
AA Change: W863R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103171
Gene: ENSMUSG00000038598
AA Change: W863R

Domain	Start	End	E-Value	Type
low complexity region	246	264	N/A	INTRINSIC
low complexity region	543	560	N/A	INTRINSIC
low complexity region	908	917	N/A	INTRINSIC
low complexity region	1189	1201	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(6) : Targeted, other(1) Gene trapped(5)

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002L01Rik	C	A	12: 3,476,688 (GRCm39)		probably benign	Het
2210408I21Rik	T	C	13: 77,408,150 (GRCm39)	I159T	possibly damaging	Het
Agpat3	T	A	10: 78,120,900 (GRCm39)	I93F	probably damaging	Het
Armc8	T	C	9: 99,409,122 (GRCm39)		probably benign	Het
Atr	G	A	9: 95,790,453 (GRCm39)	A1598T	probably benign	Het
Bltp1	T	A	3: 37,095,633 (GRCm39)		probably benign	Het
Clk1	T	C	1: 58,453,614 (GRCm39)	D324G	probably damaging	Het
Cntnap4	A	T	8: 113,537,355 (GRCm39)	D742V	probably damaging	Het
Esrrb	A	G	12: 86,468,735 (GRCm39)	N16S	probably benign	Het
Grm1	A	T	10: 10,564,755 (GRCm39)	Y1184*	probably null	Het
Hint1	G	T	11: 54,761,011 (GRCm39)		probably benign	Het
Itch	A	T	2: 155,014,504 (GRCm39)		probably null	Het
Lmod3	T	C	6: 97,215,796 (GRCm39)		probably benign	Het
Map3k4	C	A	17: 12,482,900 (GRCm39)	A606S	probably damaging	Het
Mapk4	A	T	18: 74,103,346 (GRCm39)	S54R	probably damaging	Het
Megf11	A	G	9: 64,601,214 (GRCm39)	D807G	probably benign	Het
Mgat5	A	G	1: 127,325,326 (GRCm39)	T398A	possibly damaging	Het
Nme8	T	G	13: 19,859,818 (GRCm39)	K28N	probably damaging	Het
Pamr1	A	G	2: 102,464,688 (GRCm39)	N279S	probably benign	Het
Pcca	A	T	14: 122,922,391 (GRCm39)	D384V	probably damaging	Het
Prkag1	A	T	15: 98,711,909 (GRCm39)	I239N	probably damaging	Het
Psme4	A	G	11: 30,798,131 (GRCm39)	T1375A	probably benign	Het
Ptk2	A	C	15: 73,077,994 (GRCm39)	L1024R	probably damaging	Het
Rere	G	A	4: 150,698,269 (GRCm39)		probably benign	Het
Scn2a	A	G	2: 65,579,223 (GRCm39)		probably benign	Het
Sema5a	T	A	15: 32,538,802 (GRCm39)		probably benign	Het
Slc9a1	T	A	4: 133,097,879 (GRCm39)	W9R	probably benign	Het
Slco1a5	T	A	6: 142,187,741 (GRCm39)	M533L	probably benign	Het
Ttll4	T	A	1: 74,726,643 (GRCm39)	S720T	probably damaging	Het
Vmn1r168	A	T	7: 23,240,780 (GRCm39)	R212S	probably damaging	Het
Vmn2r114	T	C	17: 23,529,494 (GRCm39)	I203V	probably damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het

Other mutations in Shoc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Shoc1	APN	4	59,086,961 (GRCm39)	missense	probably benign
IGL00574:Shoc1	APN	4	59,094,201 (GRCm39)	missense	possibly damaging	0.66
IGL01333:Shoc1	APN	4	59,047,870 (GRCm39)	missense	possibly damaging	0.66
IGL02282:Shoc1	APN	4	59,111,114 (GRCm39)	missense	unknown
IGL02418:Shoc1	APN	4	59,049,075 (GRCm39)	splice site	probably benign
IGL03028:Shoc1	APN	4	59,094,274 (GRCm39)	missense	possibly damaging	0.66
IGL03112:Shoc1	APN	4	59,049,355 (GRCm39)	missense	probably benign	0.27
IGL03137:Shoc1	APN	4	59,094,162 (GRCm39)	missense	probably benign	0.27
IGL03220:Shoc1	APN	4	59,082,378 (GRCm39)	nonsense	probably null
IGL03386:Shoc1	APN	4	59,069,315 (GRCm39)	missense	possibly damaging	0.66
1mM(1):Shoc1	UTSW	4	59,048,024 (GRCm39)	nonsense	probably null
R0071:Shoc1	UTSW	4	59,059,643 (GRCm39)	missense	possibly damaging	0.92
R0071:Shoc1	UTSW	4	59,059,643 (GRCm39)	missense	possibly damaging	0.92
R0194:Shoc1	UTSW	4	59,066,534 (GRCm39)	splice site	probably benign
R0366:Shoc1	UTSW	4	59,099,410 (GRCm39)	missense	probably benign	0.09
R0680:Shoc1	UTSW	4	59,043,967 (GRCm39)	missense	probably benign	0.00
R1419:Shoc1	UTSW	4	59,064,457 (GRCm39)	missense	possibly damaging	0.66
R1599:Shoc1	UTSW	4	59,072,349 (GRCm39)	missense	possibly damaging	0.82
R1699:Shoc1	UTSW	4	59,113,926 (GRCm39)	missense	unknown
R1799:Shoc1	UTSW	4	59,099,383 (GRCm39)	missense	possibly damaging	0.92
R1832:Shoc1	UTSW	4	59,066,441 (GRCm39)	missense	probably benign	0.05
R1870:Shoc1	UTSW	4	59,054,142 (GRCm39)	splice site	probably benign
R2076:Shoc1	UTSW	4	59,082,410 (GRCm39)	missense	possibly damaging	0.46
R2170:Shoc1	UTSW	4	59,069,215 (GRCm39)	missense	possibly damaging	0.92
R2870:Shoc1	UTSW	4	59,093,850 (GRCm39)	missense	probably damaging	0.97
R2870:Shoc1	UTSW	4	59,093,850 (GRCm39)	missense	probably damaging	0.97
R2871:Shoc1	UTSW	4	59,093,850 (GRCm39)	missense	probably damaging	0.97
R2871:Shoc1	UTSW	4	59,093,850 (GRCm39)	missense	probably damaging	0.97
R2872:Shoc1	UTSW	4	59,093,850 (GRCm39)	missense	probably damaging	0.97
R2872:Shoc1	UTSW	4	59,093,850 (GRCm39)	missense	probably damaging	0.97
R2873:Shoc1	UTSW	4	59,093,850 (GRCm39)	missense	probably damaging	0.97
R3026:Shoc1	UTSW	4	59,062,656 (GRCm39)	missense	possibly damaging	0.83
R3079:Shoc1	UTSW	4	59,047,848 (GRCm39)	missense	possibly damaging	0.82
R3853:Shoc1	UTSW	4	59,047,390 (GRCm39)	missense	possibly damaging	0.66
R3914:Shoc1	UTSW	4	59,094,201 (GRCm39)	missense	possibly damaging	0.66
R4006:Shoc1	UTSW	4	59,076,500 (GRCm39)	missense	possibly damaging	0.53
R4364:Shoc1	UTSW	4	59,082,294 (GRCm39)	missense	possibly damaging	0.92
R4387:Shoc1	UTSW	4	59,060,915 (GRCm39)	missense	possibly damaging	0.66
R4454:Shoc1	UTSW	4	59,092,383 (GRCm39)	missense	possibly damaging	0.90
R4811:Shoc1	UTSW	4	59,082,404 (GRCm39)	missense	probably benign	0.19
R4853:Shoc1	UTSW	4	59,072,345 (GRCm39)	missense	possibly damaging	0.66
R4899:Shoc1	UTSW	4	59,062,640 (GRCm39)	missense	probably damaging	0.97
R5090:Shoc1	UTSW	4	59,111,108 (GRCm39)	missense	unknown
R5169:Shoc1	UTSW	4	59,059,618 (GRCm39)	missense	possibly damaging	0.66
R5297:Shoc1	UTSW	4	59,047,543 (GRCm39)	missense	probably benign
R5400:Shoc1	UTSW	4	59,082,432 (GRCm39)	missense	possibly damaging	0.83
R5419:Shoc1	UTSW	4	59,049,017 (GRCm39)	missense	probably benign	0.04
R5668:Shoc1	UTSW	4	59,047,399 (GRCm39)	missense	probably benign
R5770:Shoc1	UTSW	4	59,092,466 (GRCm39)	missense	probably benign	0.00
R5783:Shoc1	UTSW	4	59,076,239 (GRCm39)	nonsense	probably null
R5929:Shoc1	UTSW	4	59,092,497 (GRCm39)	nonsense	probably null
R6209:Shoc1	UTSW	4	59,043,869 (GRCm39)	makesense	probably null
R6230:Shoc1	UTSW	4	59,099,345 (GRCm39)	missense	probably benign
R6233:Shoc1	UTSW	4	59,076,245 (GRCm39)	missense	possibly damaging	0.92
R6351:Shoc1	UTSW	4	59,069,317 (GRCm39)	missense	probably benign	0.00
R6785:Shoc1	UTSW	4	59,049,066 (GRCm39)	missense	probably benign	0.01
R6884:Shoc1	UTSW	4	59,059,652 (GRCm39)	missense	possibly damaging	0.83
R7355:Shoc1	UTSW	4	59,076,155 (GRCm39)	missense	probably benign
R7423:Shoc1	UTSW	4	59,076,264 (GRCm39)	missense	probably benign	0.27
R7484:Shoc1	UTSW	4	59,062,286 (GRCm39)	missense	probably damaging	0.97
R7560:Shoc1	UTSW	4	59,076,140 (GRCm39)	missense	possibly damaging	0.66
R7999:Shoc1	UTSW	4	59,094,162 (GRCm39)	missense	probably benign	0.27
R8198:Shoc1	UTSW	4	59,065,174 (GRCm39)	missense	probably benign	0.10
R8979:Shoc1	UTSW	4	59,047,276 (GRCm39)	missense	possibly damaging	0.66

Posted On

2015-04-16