Mutagenetix > Incidental Mutation

Incidental Mutation 'R0680:Shoc1'

61740

Institutional Source

Beutler Lab

Gene Symbol

Shoc1

Ensembl Gene

ENSMUSG00000038598

Gene Name

shortage in chiasmata 1

Synonyms

Mzip2, Gm426, AI481877, LOC242489

MMRRC Submission

038865-MU

Accession Numbers

Essential gene?

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

Stock #

R0680 (G1)

Quality Score

175

Status

Not validated

Chromosome

Chromosomal Location

59043753-59138983 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59043967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1449 (D1449G)

Ref Sequence

ENSEMBL: ENSMUSP00000103171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041160] [ENSMUST00000107547] [ENSMUST00000174664]

AlphaFold

A2ALV5

Predicted Effect

probably benign
Transcript: ENSMUST00000041160

SMART Domains

Protein: ENSMUSP00000042705
Gene: ENSMUSG00000038607

Domain	Start	End	E-Value	Type
G_gamma	3	68	2.62e-20	SMART
GGL	7	68	2.67e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107547
AA Change: D1449G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103171
Gene: ENSMUSG00000038598
AA Change: D1449G

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: ENSMUST00000126507

Predicted Effect

probably benign
Transcript: ENSMUST00000174664

SMART Domains

Protein: ENSMUSP00000134530
Gene: ENSMUSG00000092345

Domain	Start	End	E-Value	Type
signal peptide	1	37	N/A	INTRINSIC
DnaJ	47	113	3.9e-16	SMART
G_gamma	94	150	1.06e-6	SMART
GGL	94	150	1.05e-9	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 95.9%

Validation Efficiency

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
Clca4a	A	T	3: 144,675,128 (GRCm39)	F167L	probably damaging	Het
Col6a3	T	C	1: 90,706,703 (GRCm39)	M2137V	unknown	Het
Dennd2a	A	T	6: 39,459,996 (GRCm39)	L703Q	probably damaging	Het
Fsip2	T	A	2: 82,821,703 (GRCm39)	I5812N	possibly damaging	Het
Gen1	T	A	12: 11,291,870 (GRCm39)	S640C	probably benign	Het
Il9	T	C	13: 56,629,693 (GRCm39)	T61A	probably benign	Het
Lrp1	A	G	10: 127,425,530 (GRCm39)	L700P	probably damaging	Het
Lyst	G	A	13: 13,824,926 (GRCm39)	V1514I	probably benign	Het
Med1	A	T	11: 98,070,992 (GRCm39)		probably null	Het
Or14a257	A	T	7: 86,138,545 (GRCm39)	F71L	probably benign	Het
Or4c11c	A	T	2: 88,662,124 (GRCm39)	Y221F	probably benign	Het
Or52n2	A	G	7: 104,542,211 (GRCm39)	I208T	probably benign	Het
Or6c69b	T	A	10: 129,626,687 (GRCm39)	Y257F	probably damaging	Het
Pcdhb18	G	C	18: 37,623,347 (GRCm39)	A226P	probably damaging	Het
Pirb	T	A	7: 3,720,360 (GRCm39)	N338Y	possibly damaging	Het
Rc3h2	A	C	2: 37,289,847 (GRCm39)	I360R	probably damaging	Het
Rnf139	T	C	15: 58,771,501 (GRCm39)	Y509H	probably damaging	Het
Shisa7	T	A	7: 4,834,722 (GRCm39)	D279V	probably benign	Het
Slc6a3	T	C	13: 73,686,846 (GRCm39)	L71P	probably damaging	Het
Slc9a5	T	A	8: 106,082,539 (GRCm39)	L268Q	probably null	Het
St7	T	C	6: 17,942,732 (GRCm39)	S563P	probably damaging	Het
Stx1b	A	G	7: 127,406,895 (GRCm39)	V240A	possibly damaging	Het
Sugt1	A	G	14: 79,847,751 (GRCm39)	I200M	possibly damaging	Het
Trp53bp1	C	A	2: 121,082,349 (GRCm39)	A317S	probably null	Het
Tut7	G	A	13: 59,948,413 (GRCm39)	T636I	possibly damaging	Het
Ube4a	T	A	9: 44,859,358 (GRCm39)	Q380L	probably damaging	Het
Ugt1a2	A	G	1: 88,128,933 (GRCm39)	Y192C	probably damaging	Het
Ulbp3	T	A	10: 3,075,133 (GRCm39)		noncoding transcript	Het
Unc93b1	G	A	19: 3,997,093 (GRCm39)	V505I	probably benign	Het
Usp29	T	C	7: 6,965,884 (GRCm39)	S576P	possibly damaging	Het
Vcan	A	T	13: 89,827,941 (GRCm39)	H2208Q	probably damaging	Het
Zfp106	T	A	2: 120,357,497 (GRCm39)	S1133C	probably damaging	Het
Zfp148	A	G	16: 33,316,174 (GRCm39)	D282G	possibly damaging	Het
Zswim9	A	C	7: 12,994,248 (GRCm39)	V636G	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TGCCCTGCGAAGTACACAGGAATC -3'
(R):5'- TTCAAAGTCAGTCAGACCGGGCAC -3'

Sequencing Primer
(F):5'- GGAGTCAAGCCTAAATACTTGGTTAC -3'
(R):5'- CACAttagagccaggagagac -3'

Posted On

2013-07-30