Mutagenetix > Incidental Mutation

Incidental Mutation 'R3914:Shoc1'

309551

Institutional Source

Beutler Lab

Gene Symbol

Shoc1

Ensembl Gene

ENSMUSG00000038598

Gene Name

shortage in chiasmata 1

Synonyms

Mzip2, Gm426, AI481877, LOC242489

MMRRC Submission

040912-MU

Accession Numbers

Essential gene?

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

Stock #

R3914 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59043753-59138983 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59094201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 174 (R174S)

Ref Sequence

ENSEMBL: ENSMUSP00000103171 (fasta)

Gene Model

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

AlphaFold

A2ALV5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107547
AA Change: R174S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103171
Gene: ENSMUSG00000038598
AA Change: R174S

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: ENSMUST00000120981

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122832

Meta Mutation Damage Score

0.1710

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (36/36)

Allele List at MGI

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

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8b2	A	T	3: 89,861,755 (GRCm39)	I266N	probably damaging	Het
AU041133	G	A	10: 81,987,649 (GRCm39)	R434Q	probably damaging	Het
Ccdc174	G	T	6: 91,876,338 (GRCm39)	A392S	possibly damaging	Het
Cdh18	T	C	15: 23,410,771 (GRCm39)	Y419H	probably damaging	Het
Col20a1	A	G	2: 180,640,285 (GRCm39)	K509R	probably benign	Het
Csmd2	A	T	4: 128,215,117 (GRCm39)	D513V	probably benign	Het
Disp1	A	G	1: 182,870,666 (GRCm39)	F585L	probably benign	Het
Entpd7	G	A	19: 43,679,597 (GRCm39)	R50Q	probably benign	Het
Exoc1	G	A	5: 76,691,408 (GRCm39)	S244N	possibly damaging	Het
Fam234b	A	G	6: 135,202,681 (GRCm39)	D345G	probably damaging	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gprc6a	T	A	10: 51,504,371 (GRCm39)	M158L	probably benign	Het
Hdc	T	C	2: 126,444,926 (GRCm39)	T255A	probably damaging	Het
Hps5	T	C	7: 46,432,950 (GRCm39)	T257A	probably damaging	Het
Ice1	A	G	13: 70,754,203 (GRCm39)	C628R	probably benign	Het
Igkv2-137	A	T	6: 67,532,968 (GRCm39)	R44W	probably damaging	Het
Islr2	A	T	9: 58,105,666 (GRCm39)	Y531*	probably null	Het
Mast4	G	A	13: 102,875,829 (GRCm39)	R1112*	probably null	Het
Mrc2	T	C	11: 105,238,058 (GRCm39)		probably benign	Het
Myo19	G	A	11: 84,785,429 (GRCm39)	R224H	probably damaging	Het
Nup58	A	G	14: 60,469,596 (GRCm39)	M375T	possibly damaging	Het
Phaf1	A	G	8: 105,966,615 (GRCm39)	N121D	probably benign	Het
Phldb2	T	C	16: 45,577,526 (GRCm39)	E1133G	probably damaging	Het
Rabl6	T	C	2: 25,478,718 (GRCm39)	T238A	possibly damaging	Het
Ranbp17	G	A	11: 33,429,189 (GRCm39)	A352V	probably benign	Het
Riok3	A	G	18: 12,281,879 (GRCm39)	I283V	probably benign	Het
Rrm1	A	G	7: 102,106,381 (GRCm39)	Y300C	probably damaging	Het
Sipa1l3	T	C	7: 29,099,510 (GRCm39)	D253G	probably benign	Het
Slc22a8	T	A	19: 8,585,550 (GRCm39)	I305N	probably damaging	Het
Slc26a3	A	T	12: 31,503,905 (GRCm39)	E303D	probably benign	Het
Slc32a1	C	T	2: 158,453,152 (GRCm39)		probably benign	Het
Tars3	C	A	7: 65,333,556 (GRCm39)	Q585K	probably benign	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Ubqlnl	A	G	7: 103,798,813 (GRCm39)	V228A	probably benign	Het
Wnt7b	T	A	15: 85,422,059 (GRCm39)	D201V	possibly damaging	Het
Xpot	A	T	10: 121,440,443 (GRCm39)	I596N	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- TGAGATGAAGCACTGGAACC -3'
(R):5'- CCTTGATTGATTAAGTCCGTCTTTG -3'

Sequencing Primer
(F):5'- GATGAAGCACTGGAACCCTCAC -3'
(R):5'- TGTCACTATTATGCAACTGTTTCAG -3'

Posted On

2015-04-17