Mutagenetix > Incidental Mutation

Incidental Mutation 'R7560:Shoc1'

585008

Institutional Source

Beutler Lab

Gene Symbol

Shoc1

Ensembl Gene

ENSMUSG00000038598

Gene Name

shortage in chiasmata 1

Synonyms

Mzip2, Gm426, AI481877, LOC242489

MMRRC Submission

045626-MU

Accession Numbers

Essential gene?

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

Stock #

R7560 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59043753-59138983 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59076140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 601 (N601S)

Ref Sequence

ENSEMBL: ENSMUSP00000103171 (fasta)

Gene Model

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

AlphaFold

A2ALV5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107547
AA Change: N601S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103171
Gene: ENSMUSG00000038598
AA Change: N601S

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (100/100)

Allele List at MGI

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

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	A	G	13: 91,932,510 (GRCm39)	D502G	probably benign	Het
Adrb1	T	C	19: 56,711,120 (GRCm39)	V106A	probably damaging	Het
Ahcyl2	G	T	6: 29,886,139 (GRCm39)	G352W	probably damaging	Het
Ahnak2	T	G	12: 112,745,851 (GRCm39)	D446A		Het
Arhgap42	T	C	9: 9,035,532 (GRCm39)	D270G	probably benign	Het
Atp2a1	A	G	7: 126,058,828 (GRCm39)	V129A	possibly damaging	Het
B9d2	G	A	7: 25,380,784 (GRCm39)		probably benign	Het
Bace1	A	T	9: 45,767,437 (GRCm39)	I207F	possibly damaging	Het
Blnk	T	A	19: 40,940,834 (GRCm39)	I190F	possibly damaging	Het
Bmp7	C	T	2: 172,781,757 (GRCm39)	E36K	possibly damaging	Het
Brsk2	A	G	7: 141,554,597 (GRCm39)	E654G	probably benign	Het
Cacna2d3	T	C	14: 28,780,378 (GRCm39)	H661R	probably benign	Het
Cdh4	T	C	2: 179,532,695 (GRCm39)	V719A	probably benign	Het
Cdkn2d	G	T	9: 21,200,540 (GRCm39)	P77H	probably damaging	Het
Chd3	A	G	11: 69,247,096 (GRCm39)	V1024A	probably damaging	Het
Chsy1	T	A	7: 65,820,992 (GRCm39)	M409K	possibly damaging	Het
Chsy1	T	C	7: 65,821,319 (GRCm39)	L518P	probably damaging	Het
Cic	G	A	7: 24,972,278 (GRCm39)	V670M	probably damaging	Het
Clock	A	T	5: 76,390,738 (GRCm39)		probably null	Het
Coro1a	C	A	7: 126,302,306 (GRCm39)	V14L	probably damaging	Het
Ctcfl	C	A	2: 172,960,199 (GRCm39)	C128F	probably damaging	Het
Cyb5b	A	G	8: 107,896,491 (GRCm39)	T71A	probably damaging	Het
Cyp2c40	C	G	19: 39,795,658 (GRCm39)	V174L	possibly damaging	Het
D630045J12Rik	T	A	6: 38,173,562 (GRCm39)	Q202L	possibly damaging	Het
Dgkz	T	C	2: 91,773,160 (GRCm39)		probably benign	Het
Dlgap2	T	C	8: 14,872,697 (GRCm39)		probably null	Het
Dnah1	T	C	14: 31,026,940 (GRCm39)	I695V	probably benign	Het
Dst	T	A	1: 34,221,532 (GRCm39)	S2445R	possibly damaging	Het
Elob	T	C	17: 24,043,950 (GRCm39)	D83G	probably benign	Het
Elp4	T	A	2: 105,624,933 (GRCm39)	D320V	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Etfdh	T	C	3: 79,530,886 (GRCm39)	Y45C	probably damaging	Het
Exph5	A	G	9: 53,287,073 (GRCm39)	I1385V	probably benign	Het
Fat3	A	T	9: 15,908,138 (GRCm39)	D2621E	probably damaging	Het
Fbxl6	G	T	15: 76,422,669 (GRCm39)	A83D	probably benign	Het
Fmo2	A	G	1: 162,716,318 (GRCm39)	Y90H	probably damaging	Het
Fzd4	T	A	7: 89,056,761 (GRCm39)	Y269*	probably null	Het
Grik5	T	A	7: 24,757,951 (GRCm39)	I377F	probably damaging	Het
Havcr2	C	A	11: 46,349,889 (GRCm39)	P137Q	probably damaging	Het
Hectd4	A	G	5: 121,392,405 (GRCm39)	N223S	possibly damaging	Het
Hmcn2	A	G	2: 31,347,185 (GRCm39)	S4792G	probably benign	Het
Hps3	T	G	3: 20,084,616 (GRCm39)	I191L	probably benign	Het
Ica1l	T	A	1: 60,049,369 (GRCm39)	K195*	probably null	Het
Idh2	TCCCAGGGCC	TCC	7: 79,748,079 (GRCm39)		probably null	Het
Ift140	A	G	17: 25,311,315 (GRCm39)	D1170G	probably benign	Het
Igflr1	T	C	7: 30,266,776 (GRCm39)	F208S	possibly damaging	Het
Kcnma1	T	C	14: 23,580,310 (GRCm39)	T313A	probably benign	Het
Krt6a	T	A	15: 101,598,994 (GRCm39)	I524F	unknown	Het
Lce1d	G	T	3: 92,593,148 (GRCm39)	H88Q	unknown	Het
Lrmda	A	G	14: 22,878,770 (GRCm39)	E177G	probably benign	Het
Lrrn3	T	A	12: 41,502,712 (GRCm39)	N535I	possibly damaging	Het
Map2k4	T	A	11: 65,666,583 (GRCm39)	I40L	unknown	Het
Map7d1	A	G	4: 126,130,429 (GRCm39)	L459P	probably damaging	Het
Mipol1	A	T	12: 57,352,859 (GRCm39)	N66I	possibly damaging	Het
Mycn	A	C	12: 12,990,292 (GRCm39)	F35V	probably benign	Het
Mzt2	A	C	16: 15,680,669 (GRCm39)	M40R	possibly damaging	Het
N4bp2	T	G	5: 65,948,458 (GRCm39)	L363V	probably damaging	Het
Nfat5	T	A	8: 108,097,221 (GRCm39)	M1532K	probably benign	Het
Notch1	G	A	2: 26,350,177 (GRCm39)	T2321M	probably benign	Het
Nr1h4	T	C	10: 89,334,123 (GRCm39)	D89G	probably benign	Het
Nsun4	G	A	4: 115,908,691 (GRCm39)	T623I	possibly damaging	Het
Nup155	T	C	15: 8,184,531 (GRCm39)	S1309P	probably benign	Het
Or4e1	T	C	14: 52,700,851 (GRCm39)	N205S	probably damaging	Het
Or51f5	T	C	7: 102,430,889 (GRCm39)	S69P	probably damaging	Het
Or8h10	T	C	2: 86,809,122 (GRCm39)	Y6C	probably benign	Het
Pcsk5	A	G	19: 17,814,336 (GRCm39)	F61L	probably benign	Het
Phrf1	A	T	7: 140,811,138 (GRCm39)		probably null	Het
Pkd1	G	A	17: 24,792,605 (GRCm39)	E1431K	probably benign	Het
Pkd2	T	A	5: 104,628,219 (GRCm39)	I431N	probably damaging	Het
Plcb2	A	G	2: 118,546,124 (GRCm39)	L557P	probably damaging	Het
Poteg	A	G	8: 27,984,988 (GRCm39)	N449S	probably benign	Het
Ppargc1b	C	A	18: 61,445,281 (GRCm39)	G192W	probably damaging	Het
Rab13	T	C	3: 90,132,206 (GRCm39)	S178P	probably benign	Het
Ralgds	A	G	2: 28,437,607 (GRCm39)	D571G	probably damaging	Het
Ror2	A	G	13: 53,264,849 (GRCm39)	S748P	probably benign	Het
Sart1	A	T	19: 5,434,905 (GRCm39)	L167Q	probably damaging	Het
Septin12	A	G	16: 4,810,055 (GRCm39)	V160A	possibly damaging	Het
Sgo1	T	C	17: 53,986,295 (GRCm39)	S299G	probably benign	Het
Slc35b4	T	A	6: 34,140,296 (GRCm39)	D152V	probably benign	Het
Spata31h1	T	C	10: 82,120,449 (GRCm39)	Y4187C	probably damaging	Het
Specc1	T	A	11: 62,019,235 (GRCm39)		probably null	Het
Synj1	G	A	16: 90,737,371 (GRCm39)	T1308I	probably benign	Het
Thap12	T	G	7: 98,359,438 (GRCm39)	L106V	probably damaging	Het
Togaram1	T	C	12: 65,057,916 (GRCm39)	M1501T	possibly damaging	Het
Top2a	G	T	11: 98,891,663 (GRCm39)	N1153K	probably benign	Het
Trpm5	A	G	7: 142,634,723 (GRCm39)	L658P	probably damaging	Het
Ttc21b	G	A	2: 66,047,548 (GRCm39)	A849V	possibly damaging	Het
Vcf1	C	T	11: 113,554,215 (GRCm39)	G160D	probably damaging	Het
Vmn1r80	A	T	7: 11,927,750 (GRCm39)	I287F	probably damaging	Het
Vmn1r87	T	C	7: 12,865,745 (GRCm39)	S181G	probably damaging	Het
Vmn2r71	A	T	7: 85,273,115 (GRCm39)	H643L	probably benign	Het
Washc5	G	A	15: 59,238,041 (GRCm39)	R228C	probably damaging	Het
Wdr72	T	C	9: 74,117,408 (GRCm39)	S719P	probably damaging	Het
Xrcc3	G	T	12: 111,774,336 (GRCm39)	D164E	probably benign	Het
Zc2hc1b	G	A	10: 13,044,529 (GRCm39)	R45C	probably damaging	Het
Zfp335	A	G	2: 164,737,912 (GRCm39)	Y900H	probably damaging	Het
Zfp512b	G	A	2: 181,228,875 (GRCm39)	R697C	probably damaging	Het
Zfp60	T	C	7: 27,448,561 (GRCm39)	Y410H	probably damaging	Het
Zfp60	T	A	7: 27,448,696 (GRCm39)	C455S	probably damaging	Het
Zfp605	C	T	5: 110,275,157 (GRCm39)	Q92*	probably null	Het
Zfp64	C	T	2: 168,767,585 (GRCm39)	D676N	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
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
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'- AAGCAAAATACCCGTGCATG -3'
(R):5'- AAGTGCCATCTGCTGAATCAG -3'

Sequencing Primer
(F):5'- TTGGATAAATAAGAATTGGAGGGTG -3'
(R):5'- GAATCAGCTTCCTCTTCCCAG -3'

Posted On

2019-10-17