Mutagenetix > Incidental Mutation

Incidental Mutation 'R0218:Mael'

33647

Institutional Source

Beutler Lab

Gene Symbol

Mael

Ensembl Gene

ENSMUSG00000040629

Gene Name

maelstrom spermatogenic transposon silencer

Synonyms

4933405K18Rik

MMRRC Submission

038467-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.468) question?

Stock #

R0218 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

166028954-166066313 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 166066159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 26 (G26D)

Ref Sequence

ENSEMBL: ENSMUSP00000141652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038782] [ENSMUST00000194057]

AlphaFold

Q8BVN9

Predicted Effect

probably damaging
Transcript: ENSMUST00000038782
AA Change: G26D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045828
Gene: ENSMUSG00000040629
AA Change: G26D

Domain	Start	End	E-Value	Type
Pfam:HMG_box_2	2	73	4.4e-27	PFAM
Pfam:Maelstrom	128	329	1.6e-58	PFAM
low complexity region	399	407	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000194057
AA Change: G26D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141652
Gene: ENSMUSG00000040629
AA Change: G26D

Domain	Start	End	E-Value	Type
Pfam:HMG_box_2	2	73	1.6e-24	PFAM
Pfam:Maelstrom	128	314	2.6e-43	PFAM
low complexity region	385	393	N/A	INTRINSIC

Meta Mutation Damage Score

0.4420

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.7%

Validation Efficiency

98% (53/54)

MGI Phenotype

PHENOTYPE: Male mice homozygous for a null allele are infertile and display small testes, a complete block of spermatogenesis due to apoptosis during meiotic prophase I, defects in homologous chromosome synapsis, DNA damage, reduced DNA methylation, and derepression of L1 retrotransposons in the adult testis. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	T	G	8: 44,079,477 (GRCm39)	Q249P	probably benign	Het
Adgrv1	C	T	13: 81,255,017 (GRCm39)		probably null	Het
Ccdc110	A	G	8: 46,387,761 (GRCm39)		probably benign	Het
Cd200r1	T	A	16: 44,609,106 (GRCm39)		probably benign	Het
Cdkl1	A	T	12: 69,836,809 (GRCm39)	D40E	probably benign	Het
Cdx1	A	G	18: 61,153,436 (GRCm39)		probably benign	Het
Cenpp	T	A	13: 49,801,108 (GRCm39)	K103N	possibly damaging	Het
Cep162	A	G	9: 87,093,862 (GRCm39)	Y839H	possibly damaging	Het
Chac1	T	A	2: 119,183,941 (GRCm39)	L181*	probably null	Het
Ciapin1	G	T	8: 95,554,938 (GRCm39)	Q173K	probably damaging	Het
Cmklr2	T	A	1: 63,222,690 (GRCm39)	N182Y	probably benign	Het
Dgcr2	A	G	16: 17,667,650 (GRCm39)	C270R	probably damaging	Het
Dlc1	A	G	8: 37,317,383 (GRCm39)	S431P	probably benign	Het
Efcab12	T	C	6: 115,791,611 (GRCm39)		probably benign	Het
Ehbp1	A	T	11: 22,181,992 (GRCm39)		probably benign	Het
Enpp3	A	T	10: 24,652,767 (GRCm39)	V730D	possibly damaging	Het
Fam174b	A	G	7: 73,390,512 (GRCm39)	T88A	probably benign	Het
Fancl	A	G	11: 26,421,337 (GRCm39)	K364E	probably benign	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Galc	A	G	12: 98,188,906 (GRCm39)	Y402H	probably damaging	Het
Gga2	T	C	7: 121,598,123 (GRCm39)	N324D	possibly damaging	Het
Hc	G	T	2: 34,918,086 (GRCm39)	F732L	probably damaging	Het
Heca	T	C	10: 17,791,463 (GRCm39)	M198V	probably benign	Het
Herc6	C	A	6: 57,596,586 (GRCm39)	H509N	probably benign	Het
Irf2bpl	A	T	12: 86,929,398 (GRCm39)	M425K	probably benign	Het
Map1a	A	G	2: 121,135,906 (GRCm39)	T2241A	probably benign	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Mdga2	A	G	12: 66,701,894 (GRCm39)	S505P	probably damaging	Het
Mdm1	A	G	10: 117,992,783 (GRCm39)		probably benign	Het
Mex3b	A	T	7: 82,518,312 (GRCm39)	E209V	probably damaging	Het
Mrgprx3-ps	T	C	7: 46,959,154 (GRCm39)	E279G	possibly damaging	Het
Ms4a20	A	T	19: 11,093,801 (GRCm39)	Y10*	probably null	Het
Nfe2l1	A	T	11: 96,718,439 (GRCm39)	L32Q	probably damaging	Het
Npas1	C	T	7: 16,195,818 (GRCm39)	V285I	probably benign	Het
Or5e1	T	A	7: 108,354,781 (GRCm39)	C239*	probably null	Het
Or5h19	C	T	16: 58,856,456 (GRCm39)	V215I	probably benign	Het
Or9i14	T	C	19: 13,792,342 (GRCm39)	N204S	probably benign	Het
Osr1	A	G	12: 9,629,639 (GRCm39)	T171A	probably benign	Het
Ppp3cb	A	T	14: 20,574,044 (GRCm39)	C265S	probably damaging	Het
Pramel27	A	G	4: 143,578,401 (GRCm39)	I220M	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Simc1	T	C	13: 54,674,417 (GRCm39)	Y922H	probably damaging	Het
Slc25a39	A	G	11: 102,297,056 (GRCm39)	F56L	probably benign	Het
Smg8	A	G	11: 86,976,948 (GRCm39)	L211P	probably damaging	Het
Sncaip	A	G	18: 53,040,400 (GRCm39)	S805G	probably benign	Het
Sra1	T	C	18: 36,809,662 (GRCm39)		probably benign	Het
Tas2r104	T	G	6: 131,662,055 (GRCm39)	D218A	probably damaging	Het
Unc45b	A	G	11: 82,802,686 (GRCm39)		probably benign	Het
Unc79	A	G	12: 103,075,040 (GRCm39)		probably null	Het
Washc2	T	A	6: 116,225,007 (GRCm39)	L785*	probably null	Het
Zfp30	A	G	7: 29,493,063 (GRCm39)	E439G	probably damaging	Het
Zfp518a	A	G	19: 40,901,072 (GRCm39)	T334A	probably benign	Het

Other mutations in Mael

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00907:Mael	APN	1	166,032,418 (GRCm39)	missense	probably damaging	1.00
IGL01153:Mael	APN	1	166,029,919 (GRCm39)	missense	possibly damaging	0.89
D4043:Mael	UTSW	1	166,064,455 (GRCm39)	missense	probably benign	0.00
R0811:Mael	UTSW	1	166,062,968 (GRCm39)	critical splice donor site	probably null
R0812:Mael	UTSW	1	166,062,968 (GRCm39)	critical splice donor site	probably null
R1544:Mael	UTSW	1	166,029,859 (GRCm39)	missense	probably benign	0.28
R2096:Mael	UTSW	1	166,053,244 (GRCm39)	missense	probably benign	0.41
R2914:Mael	UTSW	1	166,054,179 (GRCm39)	missense	probably damaging	1.00
R3031:Mael	UTSW	1	166,032,375 (GRCm39)	missense	probably damaging	1.00
R3709:Mael	UTSW	1	166,066,135 (GRCm39)	missense	probably damaging	0.99
R3710:Mael	UTSW	1	166,066,135 (GRCm39)	missense	probably damaging	0.99
R3880:Mael	UTSW	1	166,064,437 (GRCm39)	splice site	probably benign
R4594:Mael	UTSW	1	166,063,056 (GRCm39)	missense	probably damaging	1.00
R4669:Mael	UTSW	1	166,063,077 (GRCm39)	missense	probably damaging	1.00
R7382:Mael	UTSW	1	166,029,167 (GRCm39)	missense	probably benign	0.00
R8024:Mael	UTSW	1	166,054,196 (GRCm39)	missense	probably damaging	0.99
R8519:Mael	UTSW	1	166,063,127 (GRCm39)	critical splice acceptor site	probably null
R8793:Mael	UTSW	1	166,029,257 (GRCm39)	missense	probably benign	0.41
R9090:Mael	UTSW	1	166,032,424 (GRCm39)	missense	probably benign	0.01
R9147:Mael	UTSW	1	166,029,259 (GRCm39)	missense	probably benign	0.08
R9148:Mael	UTSW	1	166,029,259 (GRCm39)	missense	probably benign	0.08
R9271:Mael	UTSW	1	166,032,424 (GRCm39)	missense	probably benign	0.01
R9382:Mael	UTSW	1	166,053,282 (GRCm39)	missense	probably damaging	0.97
X0018:Mael	UTSW	1	166,029,137 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTGAAGGCCCAGAATCCTTTCCC -3'
(R):5'- AGTCAGCCAATCACAGTGCTCTCC -3'

Sequencing Primer
(F):5'- AGAATCCTTTCCCTGGGCTG -3'
(R):5'- CGAGGTGGAATCCAGTTTCAG -3'

Posted On

2013-05-09