Mutagenetix > Incidental Mutation

Incidental Mutation 'R4364:Shoc1'

325665

Institutional Source

Beutler Lab

Gene Symbol

Shoc1

Ensembl Gene

ENSMUSG00000038598

Gene Name

shortage in chiasmata 1

Synonyms

Mzip2, Gm426, AI481877, LOC242489

MMRRC Submission

041672-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R4364 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59043753-59138983 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 59082294 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 445 (T445P)

Ref Sequence

ENSEMBL: ENSMUSP00000103171 (fasta)

Gene Model

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

AlphaFold

A2ALV5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107547
AA Change: T445P

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103171
Gene: ENSMUSG00000038598
AA Change: T445P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122832

Meta Mutation Damage Score

0.1020

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

93% (40/43)

Allele List at MGI

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

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amn	A	C	12: 111,238,196 (GRCm39)	N37H	probably damaging	Het
Apoa5	A	T	9: 46,181,827 (GRCm39)	D301V	probably damaging	Het
Atrn	A	G	2: 130,812,128 (GRCm39)	E691G	probably benign	Het
Ccer1	CGAGGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	10: 97,530,232 (GRCm39)		probably benign	Het
Cct2	A	G	10: 116,891,056 (GRCm39)	V396A	probably damaging	Het
Dhx35	C	T	2: 158,684,272 (GRCm39)	Q516*	probably null	Het
Dop1b	A	G	16: 93,567,812 (GRCm39)	K1413R	probably benign	Het
Dpp9	T	C	17: 56,494,391 (GRCm39)	H856R	possibly damaging	Het
Eif4e2	T	C	1: 87,152,093 (GRCm39)	F97L	probably benign	Het
Exoc6b	A	T	6: 84,980,161 (GRCm39)		probably benign	Het
Fat1	T	A	8: 45,405,999 (GRCm39)	S917T	probably benign	Het
Frem1	A	T	4: 82,831,488 (GRCm39)	Y2043N	probably damaging	Het
Galnt14	A	G	17: 73,819,154 (GRCm39)	I312T	probably damaging	Het
Glipr1	T	C	10: 111,821,542 (GRCm39)	N220S	possibly damaging	Het
Grid1	A	G	14: 34,667,989 (GRCm39)	E172G	probably benign	Het
Hspa4l	C	A	3: 40,721,241 (GRCm39)		probably null	Het
Il1rl2	G	T	1: 40,390,951 (GRCm39)	R298L	probably benign	Het
Il7r	T	A	15: 9,513,014 (GRCm39)	H165L	probably damaging	Het
Krt87	T	G	15: 101,385,395 (GRCm39)	M326L	probably benign	Het
Lcn10	G	T	2: 25,574,052 (GRCm39)	C85F	probably damaging	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Nup205	C	A	6: 35,168,962 (GRCm39)	P397Q	probably benign	Het
Or4d10	A	G	19: 12,051,861 (GRCm39)	V45A	probably benign	Het
Or4f17-ps1	G	A	2: 111,357,985 (GRCm39)	V127M	probably benign	Het
Or8b12c	A	T	9: 37,715,486 (GRCm39)	H93L	probably benign	Het
Prkce	C	T	17: 86,784,279 (GRCm39)	T218I	probably damaging	Het
Rhbdl2	T	A	4: 123,703,728 (GRCm39)	M1K	probably null	Het
Ripor2	C	T	13: 24,905,694 (GRCm39)	P947S	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sptbn5	A	G	2: 119,899,136 (GRCm39)	L428P	probably damaging	Het
Syne1	A	G	10: 5,303,987 (GRCm39)	V789A	probably damaging	Het
Taar8c	C	T	10: 23,977,477 (GRCm39)	V112M	probably benign	Het
Tex10	T	C	4: 48,468,774 (GRCm39)	I51V	probably benign	Het
Ttll1	T	A	15: 83,384,195 (GRCm39)	Q144L	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
IGL02621:Shoc1	APN	4	59,062,668 (GRCm39)	missense	probably damaging	0.97
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
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

Predicted Primers

PCR Primer
(F):5'- TTCTAAGAAGACAATAGAGCCCAG -3'
(R):5'- AGATTTCAAGAACCCAGCAGTC -3'

Sequencing Primer
(F):5'- GGCCTAAAGTCATGAGTTGGC -3'
(R):5'- CAGCAGTCAATATTCACTTGCAG -3'

Posted On

2015-07-06