Mutagenetix > Incidental Mutation

Incidental Mutation 'R8015:Speg'

643145

Institutional Source

Beutler Lab

Gene Symbol

Speg

Ensembl Gene

ENSMUSG00000026207

Gene Name

SPEG complex locus

Synonyms

SPEGbeta, Apeg1, SPEGalpha, D1Bwg1450e, SPEG, BPEG

MMRRC Submission

067455-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8015 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75375297-75432320 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 75415421 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087122]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000087122

SMART Domains

Protein: ENSMUSP00000084361
Gene: ENSMUSG00000026207

Domain	Start	End	E-Value	Type
IG	51	128	1.48e-6	SMART
low complexity region	292	318	N/A	INTRINSIC
low complexity region	325	338	N/A	INTRINSIC
low complexity region	359	368	N/A	INTRINSIC
low complexity region	412	423	N/A	INTRINSIC
low complexity region	573	584	N/A	INTRINSIC
IGc2	739	806	2.19e-9	SMART
Pfam:SPEG_u2	817	873	2.4e-36	PFAM
IGc2	886	954	4.03e-8	SMART
IG	979	1064	1.05e-6	SMART
IGc2	1081	1148	2.19e-9	SMART
IG	1199	1283	6.87e-2	SMART
FN3	1287	1373	1.38e-4	SMART
IG	1401	1487	2.64e-3	SMART
IGc2	1502	1569	1.12e-6	SMART
STYKc	1606	1859	8.44e-63	SMART
Blast:STYKc	1861	1895	6e-12	BLAST
low complexity region	1918	1939	N/A	INTRINSIC
low complexity region	2069	2081	N/A	INTRINSIC
low complexity region	2208	2227	N/A	INTRINSIC
low complexity region	2230	2249	N/A	INTRINSIC
low complexity region	2255	2269	N/A	INTRINSIC
low complexity region	2343	2366	N/A	INTRINSIC
low complexity region	2410	2422	N/A	INTRINSIC
low complexity region	2433	2451	N/A	INTRINSIC
low complexity region	2457	2487	N/A	INTRINSIC
low complexity region	2524	2544	N/A	INTRINSIC
IGc2	2599	2667	2.05e-9	SMART
FN3	2681	2760	2.5e-2	SMART
low complexity region	2775	2789	N/A	INTRINSIC
low complexity region	2802	2831	N/A	INTRINSIC
low complexity region	2912	2927	N/A	INTRINSIC
STYKc	2961	3213	4.42e-66	SMART
low complexity region	3241	3250	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137868

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Studies have determined that a lack of this protein affected myocardial development. Multiple alternatively spliced transcript variants that encode different protein isoforms have been defined. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele die during the early postnatal period with enlarged, dilated hearts, and decreased cardiac function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alad	A	G	4: 62,511,922 (GRCm38)	V121A	probably damaging	Het
Anapc2	T	A	2: 25,284,676 (GRCm38)	Y684N	probably benign	Het
Arntl2	T	C	6: 146,820,590 (GRCm38)	S220P	probably damaging	Het
Atp10a	G	T	7: 58,803,497 (GRCm38)	R808L	probably benign	Het
Best2	A	G	8: 85,009,354 (GRCm38)	V317A	probably damaging	Het
Cacnb4	A	G	2: 52,464,643 (GRCm38)	L241P	probably damaging	Het
Col6a5	T	C	9: 105,881,741 (GRCm38)	T2089A	possibly damaging	Het
Cttnbp2	G	C	6: 18,426,093 (GRCm38)	A762G	possibly damaging	Het
Defb13	G	T	8: 21,946,812 (GRCm38)	V8F	possibly damaging	Het
Dpp6	C	T	5: 26,817,810 (GRCm38)		probably benign	Het
Fam126b	A	G	1: 58,535,482 (GRCm38)	V300A	possibly damaging	Het
Fat4	A	G	3: 38,981,916 (GRCm38)	D3239G	possibly damaging	Het
Gm16486	C	T	8: 70,716,792 (GRCm38)	S1177L	probably benign	Het
Gm5615	A	G	9: 36,534,954 (GRCm38)	V54A	probably benign	Het
Hmcn1	T	G	1: 150,598,311 (GRCm38)	R4793S	possibly damaging	Het
Hspa1a	T	A	17: 34,970,649 (GRCm38)	Q426L	probably damaging	Het
Il20rb	T	A	9: 100,474,894 (GRCm38)	Y61F	probably damaging	Het
Itgb1	T	A	8: 128,722,401 (GRCm38)	V496D	possibly damaging	Het
Jakmip1	T	C	5: 37,159,765 (GRCm38)	S102P	unknown	Het
Jmjd8	T	A	17: 25,829,328 (GRCm38)	F108I	probably damaging	Het
Krtap15	A	G	16: 88,829,209 (GRCm38)	T55A	possibly damaging	Het
Lce3d	A	T	3: 92,958,503 (GRCm38)		probably benign	Het
Lnpep	C	A	17: 17,546,499 (GRCm38)	V702F	probably damaging	Het
Lox	G	A	18: 52,528,348 (GRCm38)	A218V	probably benign	Het
Mcrs1	T	A	15: 99,248,854 (GRCm38)	K99*	probably null	Het
Mfsd8	G	A	3: 40,846,835 (GRCm38)		probably benign	Het
Msto1	G	T	3: 88,911,556 (GRCm38)	P264Q	probably damaging	Het
Nrp2	C	T	1: 62,745,408 (GRCm38)	R239C	probably damaging	Het
Olfr1002	G	T	2: 85,647,792 (GRCm38)	H176Q	probably damaging	Het
Olfr1368	T	C	13: 21,142,133 (GRCm38)	D308G	probably benign	Het
Pate2	A	T	9: 35,670,518 (GRCm38)	H36L	probably damaging	Het
Phf20l1	T	G	15: 66,639,948 (GRCm38)	N925K	possibly damaging	Het
Pnliprp2	G	T	19: 58,766,282 (GRCm38)	V253F	probably damaging	Het
Polr2b	A	G	5: 77,336,506 (GRCm38)	D745G	probably damaging	Het
Ptdss1	T	A	13: 66,963,343 (GRCm38)	W158R	possibly damaging	Het
Rcn3	T	A	7: 45,084,907 (GRCm38)	I226F	probably damaging	Het
Rhbdl1	C	G	17: 25,835,851 (GRCm38)	V157L	probably damaging	Het
Slc30a2	A	G	4: 134,347,450 (GRCm38)	T173A	probably benign	Het
Spata16	A	G	3: 26,667,659 (GRCm38)	T110A	probably benign	Het
Specc1l	A	G	10: 75,241,068 (GRCm38)	K53E	probably benign	Het
Spta1	T	A	1: 174,240,171 (GRCm38)	C2055S	probably damaging	Het
Tex14	G	A	11: 87,509,600 (GRCm38)	R406Q	probably benign	Het
Tmem150b	C	T	7: 4,716,328 (GRCm38)	G198S	probably null	Het
Tnfrsf14	T	G	4: 154,926,661 (GRCm38)	Q81P	probably damaging	Het
Txndc17	A	G	11: 72,207,742 (GRCm38)	K40R	probably benign	Het
Ube3a	T	A	7: 59,284,756 (GRCm38)	V560E	probably damaging	Het
Vmn1r14	A	G	6: 57,234,030 (GRCm38)	M198V	probably damaging	Het
Vmn2r23	G	A	6: 123,704,541 (GRCm38)	S136N	probably benign	Het
Vmn2r31	C	T	7: 7,384,200 (GRCm38)	V791I	probably damaging	Het
Wdfy4	T	C	14: 33,107,747 (GRCm38)	Y984C		Het
Zfp386	T	G	12: 116,059,407 (GRCm38)	D248E	probably damaging	Het

Other mutations in Speg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:Speg	APN	1	75,410,390 (GRCm38)	missense	possibly damaging	0.95
IGL00979:Speg	APN	1	75,410,734 (GRCm38)	missense	probably damaging	0.98
IGL01122:Speg	APN	1	75,410,035 (GRCm38)	missense	probably damaging	1.00
IGL01293:Speg	APN	1	75,388,102 (GRCm38)	missense	probably damaging	1.00
IGL01304:Speg	APN	1	75,428,197 (GRCm38)	missense	probably benign	0.00
IGL01351:Speg	APN	1	75,411,276 (GRCm38)	splice site	probably benign
IGL01473:Speg	APN	1	75,428,285 (GRCm38)	missense	possibly damaging	0.53
IGL01477:Speg	APN	1	75,391,897 (GRCm38)	missense	probably damaging	1.00
IGL01485:Speg	APN	1	75,387,827 (GRCm38)	missense	probably damaging	1.00
IGL01584:Speg	APN	1	75,430,937 (GRCm38)	missense	probably damaging	1.00
IGL01959:Speg	APN	1	75,391,090 (GRCm38)	missense	probably damaging	1.00
IGL02231:Speg	APN	1	75,423,387 (GRCm38)	missense	probably damaging	1.00
IGL02355:Speg	APN	1	75,423,915 (GRCm38)	missense	possibly damaging	0.49
IGL02362:Speg	APN	1	75,423,915 (GRCm38)	missense	possibly damaging	0.49
IGL03013:Speg	APN	1	75,431,279 (GRCm38)	missense	probably damaging	0.97
IGL03168:Speg	APN	1	75,388,187 (GRCm38)	missense	probably damaging	1.00
H8562:Speg	UTSW	1	75,415,597 (GRCm38)	missense	probably benign	0.39
R0112:Speg	UTSW	1	75,385,032 (GRCm38)	missense	possibly damaging	0.92
R0311:Speg	UTSW	1	75,430,937 (GRCm38)	missense	probably damaging	1.00
R0315:Speg	UTSW	1	75,415,136 (GRCm38)	missense	possibly damaging	0.88
R0393:Speg	UTSW	1	75,423,924 (GRCm38)	missense	possibly damaging	0.46
R0403:Speg	UTSW	1	75,430,784 (GRCm38)	splice site	probably benign
R0483:Speg	UTSW	1	75,385,032 (GRCm38)	missense	possibly damaging	0.92
R0648:Speg	UTSW	1	75,427,978 (GRCm38)	missense	probably benign
R0683:Speg	UTSW	1	75,429,118 (GRCm38)	missense	probably damaging	1.00
R0800:Speg	UTSW	1	75,423,489 (GRCm38)	missense	probably damaging	1.00
R0815:Speg	UTSW	1	75,415,392 (GRCm38)	missense	probably damaging	1.00
R0835:Speg	UTSW	1	75,375,674 (GRCm38)	missense	probably benign	0.00
R0866:Speg	UTSW	1	75,417,083 (GRCm38)	missense	probably damaging	0.99
R0880:Speg	UTSW	1	75,405,061 (GRCm38)	missense	probably damaging	1.00
R1082:Speg	UTSW	1	75,415,138 (GRCm38)	missense	possibly damaging	0.94
R1140:Speg	UTSW	1	75,429,095 (GRCm38)	missense	probably damaging	1.00
R1252:Speg	UTSW	1	75,427,095 (GRCm38)	missense	probably damaging	1.00
R1301:Speg	UTSW	1	75,401,501 (GRCm38)	missense	probably damaging	1.00
R1348:Speg	UTSW	1	75,422,872 (GRCm38)	missense	probably damaging	0.99
R1388:Speg	UTSW	1	75,430,460 (GRCm38)	missense	probably damaging	0.99
R1465:Speg	UTSW	1	75,428,484 (GRCm38)	splice site	probably benign
R1505:Speg	UTSW	1	75,375,542 (GRCm38)	missense	probably benign	0.02
R1506:Speg	UTSW	1	75,417,663 (GRCm38)	missense	probably benign	0.03
R1531:Speg	UTSW	1	75,401,222 (GRCm38)	missense	possibly damaging	0.86
R1543:Speg	UTSW	1	75,421,951 (GRCm38)	missense	probably damaging	1.00
R1567:Speg	UTSW	1	75,428,047 (GRCm38)	missense	probably benign
R1630:Speg	UTSW	1	75,422,977 (GRCm38)	missense	probably damaging	1.00
R1667:Speg	UTSW	1	75,410,549 (GRCm38)	splice site	probably benign
R1673:Speg	UTSW	1	75,411,163 (GRCm38)	missense	possibly damaging	0.60
R1718:Speg	UTSW	1	75,421,744 (GRCm38)	missense	possibly damaging	0.87
R1718:Speg	UTSW	1	75,417,863 (GRCm38)	missense	probably benign	0.00
R1719:Speg	UTSW	1	75,417,863 (GRCm38)	missense	probably benign	0.00
R1759:Speg	UTSW	1	75,401,162 (GRCm38)	missense	possibly damaging	0.95
R1861:Speg	UTSW	1	75,389,005 (GRCm38)	missense	probably damaging	1.00
R1874:Speg	UTSW	1	75,423,906 (GRCm38)	missense	probably benign
R1936:Speg	UTSW	1	75,431,408 (GRCm38)	missense	possibly damaging	0.93
R2192:Speg	UTSW	1	75,417,727 (GRCm38)	missense	probably damaging	1.00
R2204:Speg	UTSW	1	75,430,477 (GRCm38)	missense	probably benign	0.30
R2287:Speg	UTSW	1	75,430,465 (GRCm38)	missense	possibly damaging	0.76
R2696:Speg	UTSW	1	75,406,926 (GRCm38)	missense	probably benign	0.27
R2983:Speg	UTSW	1	75,384,930 (GRCm38)	missense	possibly damaging	0.83
R3110:Speg	UTSW	1	75,422,682 (GRCm38)	nonsense	probably null
R3112:Speg	UTSW	1	75,422,682 (GRCm38)	nonsense	probably null
R3154:Speg	UTSW	1	75,401,542 (GRCm38)	missense	probably damaging	1.00
R3720:Speg	UTSW	1	75,426,782 (GRCm38)	missense	probably damaging	1.00
R3983:Speg	UTSW	1	75,422,547 (GRCm38)	missense	probably benign	0.27
R4133:Speg	UTSW	1	75,427,904 (GRCm38)	missense	probably benign
R4522:Speg	UTSW	1	75,428,330 (GRCm38)	missense	probably damaging	1.00
R4564:Speg	UTSW	1	75,391,834 (GRCm38)	missense	probably damaging	1.00
R4577:Speg	UTSW	1	75,415,395 (GRCm38)	missense	probably damaging	1.00
R4858:Speg	UTSW	1	75,421,735 (GRCm38)	missense	probably damaging	1.00
R4953:Speg	UTSW	1	75,423,864 (GRCm38)	missense	possibly damaging	0.72
R4965:Speg	UTSW	1	75,427,703 (GRCm38)	missense	probably damaging	1.00
R4967:Speg	UTSW	1	75,387,869 (GRCm38)	missense	probably damaging	1.00
R5152:Speg	UTSW	1	75,428,098 (GRCm38)	missense	possibly damaging	0.92
R5156:Speg	UTSW	1	75,428,087 (GRCm38)	missense	probably damaging	0.99
R5371:Speg	UTSW	1	75,431,393 (GRCm38)	missense	possibly damaging	0.50
R5550:Speg	UTSW	1	75,429,100 (GRCm38)	missense	probably damaging	1.00
R5562:Speg	UTSW	1	75,427,056 (GRCm38)	missense	probably damaging	1.00
R5687:Speg	UTSW	1	75,419,129 (GRCm38)	splice site	probably null
R5985:Speg	UTSW	1	75,406,684 (GRCm38)	missense	possibly damaging	0.94
R6004:Speg	UTSW	1	75,415,603 (GRCm38)	nonsense	probably null
R6038:Speg	UTSW	1	75,418,459 (GRCm38)	critical splice donor site	probably null
R6038:Speg	UTSW	1	75,418,459 (GRCm38)	critical splice donor site	probably null
R6143:Speg	UTSW	1	75,414,387 (GRCm38)	missense	probably damaging	1.00
R6265:Speg	UTSW	1	75,406,679 (GRCm38)	nonsense	probably null
R6347:Speg	UTSW	1	75,426,875 (GRCm38)	missense	probably benign	0.00
R6453:Speg	UTSW	1	75,417,972 (GRCm38)	missense	probably benign	0.06
R6505:Speg	UTSW	1	75,429,523 (GRCm38)	missense	possibly damaging	0.93
R6505:Speg	UTSW	1	75,406,684 (GRCm38)	missense	possibly damaging	0.94
R6531:Speg	UTSW	1	75,422,757 (GRCm38)	missense	probably benign	0.03
R6566:Speg	UTSW	1	75,388,463 (GRCm38)	missense	probably damaging	1.00
R6747:Speg	UTSW	1	75,410,395 (GRCm38)	critical splice donor site	probably null
R6819:Speg	UTSW	1	75,391,812 (GRCm38)	missense	possibly damaging	0.56
R6821:Speg	UTSW	1	75,417,903 (GRCm38)	missense	possibly damaging	0.83
R6919:Speg	UTSW	1	75,387,908 (GRCm38)	nonsense	probably null
R6981:Speg	UTSW	1	75,430,913 (GRCm38)	missense	probably damaging	1.00
R7002:Speg	UTSW	1	75,423,268 (GRCm38)	missense	probably damaging	0.98
R7082:Speg	UTSW	1	75,411,447 (GRCm38)	missense	probably damaging	0.96
R7140:Speg	UTSW	1	75,406,770 (GRCm38)	critical splice donor site	probably null
R7175:Speg	UTSW	1	75,422,490 (GRCm38)	missense	probably benign	0.01
R7178:Speg	UTSW	1	75,422,383 (GRCm38)	missense	possibly damaging	0.46
R7345:Speg	UTSW	1	75,384,835 (GRCm38)	missense	probably damaging	0.97
R7420:Speg	UTSW	1	75,430,905 (GRCm38)	missense	probably damaging	1.00
R7537:Speg	UTSW	1	75,401,464 (GRCm38)	missense	probably damaging	1.00
R7562:Speg	UTSW	1	75,431,279 (GRCm38)	missense	probably damaging	0.97
R7615:Speg	UTSW	1	75,429,242 (GRCm38)	missense	probably damaging	1.00
R7679:Speg	UTSW	1	75,406,315 (GRCm38)	missense	probably damaging	1.00
R7692:Speg	UTSW	1	75,401,190 (GRCm38)	missense	probably benign	0.04
R7696:Speg	UTSW	1	75,429,161 (GRCm38)	missense	probably damaging	1.00
R7719:Speg	UTSW	1	75,375,825 (GRCm38)	missense	probably damaging	1.00
R7794:Speg	UTSW	1	75,388,870 (GRCm38)	missense	probably benign	0.00
R7824:Speg	UTSW	1	75,384,017 (GRCm38)	splice site	probably null
R7834:Speg	UTSW	1	75,384,927 (GRCm38)	missense	probably damaging	1.00
R7892:Speg	UTSW	1	75,427,166 (GRCm38)	missense	probably damaging	1.00
R8068:Speg	UTSW	1	75,422,250 (GRCm38)	missense	probably damaging	1.00
R8085:Speg	UTSW	1	75,415,353 (GRCm38)	missense	probably damaging	1.00
R8130:Speg	UTSW	1	75,415,596 (GRCm38)	missense	probably damaging	1.00
R8132:Speg	UTSW	1	75,422,995 (GRCm38)	missense	probably damaging	1.00
R8239:Speg	UTSW	1	75,419,033 (GRCm38)	missense	probably damaging	1.00
R8287:Speg	UTSW	1	75,422,236 (GRCm38)	missense	probably benign	0.26
R8299:Speg	UTSW	1	75,387,836 (GRCm38)	missense	possibly damaging	0.95
R8441:Speg	UTSW	1	75,411,332 (GRCm38)	missense	possibly damaging	0.60
R8468:Speg	UTSW	1	75,431,309 (GRCm38)	missense	probably damaging	1.00
R8555:Speg	UTSW	1	75,402,264 (GRCm38)	splice site	probably null
R8781:Speg	UTSW	1	75,407,021 (GRCm38)	missense	probably damaging	1.00
R8784:Speg	UTSW	1	75,405,149 (GRCm38)	critical splice donor site	probably benign
R8848:Speg	UTSW	1	75,427,438 (GRCm38)	critical splice donor site	probably null
R8881:Speg	UTSW	1	75,401,151 (GRCm38)	missense	possibly damaging	0.67
R8898:Speg	UTSW	1	75,388,873 (GRCm38)	missense	probably damaging	1.00
R8935:Speg	UTSW	1	75,422,606 (GRCm38)	missense	probably benign	0.30
R9019:Speg	UTSW	1	75,429,238 (GRCm38)	missense	probably damaging	1.00
R9027:Speg	UTSW	1	75,388,432 (GRCm38)	missense	possibly damaging	0.67
R9066:Speg	UTSW	1	75,385,010 (GRCm38)	missense	probably damaging	0.99
R9092:Speg	UTSW	1	75,422,734 (GRCm38)	missense	probably benign	0.01
R9117:Speg	UTSW	1	75,387,800 (GRCm38)	missense	probably damaging	1.00
R9202:Speg	UTSW	1	75,390,993 (GRCm38)	missense	probably damaging	1.00
R9246:Speg	UTSW	1	75,384,854 (GRCm38)	missense	probably damaging	1.00
R9248:Speg	UTSW	1	75,421,776 (GRCm38)	missense	probably damaging	1.00
R9451:Speg	UTSW	1	75,417,733 (GRCm38)	missense	probably damaging	1.00
R9452:Speg	UTSW	1	75,422,508 (GRCm38)	missense	probably benign
R9475:Speg	UTSW	1	75,388,091 (GRCm38)	missense	probably damaging	1.00
R9476:Speg	UTSW	1	75,401,124 (GRCm38)	missense	probably damaging	0.99
R9510:Speg	UTSW	1	75,401,124 (GRCm38)	missense	probably damaging	0.99
R9519:Speg	UTSW	1	75,415,736 (GRCm38)	missense	probably damaging	1.00
R9528:Speg	UTSW	1	75,387,803 (GRCm38)	missense	possibly damaging	0.78
R9542:Speg	UTSW	1	75,422,782 (GRCm38)	missense	probably benign	0.08
R9553:Speg	UTSW	1	75,418,001 (GRCm38)	missense	probably benign	0.00
R9767:Speg	UTSW	1	75,427,181 (GRCm38)	missense	possibly damaging	0.78
R9768:Speg	UTSW	1	75,418,973 (GRCm38)	nonsense	probably null
R9800:Speg	UTSW	1	75,422,714 (GRCm38)	missense	probably benign	0.03
X0025:Speg	UTSW	1	75,422,457 (GRCm38)	missense	probably damaging	1.00
X0026:Speg	UTSW	1	75,423,475 (GRCm38)	missense	possibly damaging	0.88
Z1176:Speg	UTSW	1	75,406,594 (GRCm38)	missense	probably damaging	1.00
Z1177:Speg	UTSW	1	75,427,683 (GRCm38)	missense	probably damaging	1.00
Z1177:Speg	UTSW	1	75,430,455 (GRCm38)	missense	probably damaging	0.99
Z1177:Speg	UTSW	1	75,428,381 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGATCTGTCCCACATTGC -3'
(R):5'- GCTGATGCTTTAGGCTTAGCC -3'

Sequencing Primer
(F):5'- GATCTGTCCCACATTGCCCTTC -3'
(R):5'- GGATGAACTTGGCTGCAAACTCC -3'

Posted On

2020-08-05