Mutagenetix > Incidental Mutation

Incidental Mutation 'R4594:Mael'

344241

Institutional Source

Beutler Lab

Gene Symbol

Mael

Ensembl Gene

ENSMUSG00000040629

Gene Name

maelstrom spermatogenic transposon silencer

Synonyms

4933405K18Rik

MMRRC Submission

041810-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.397) question?

Stock #

R4594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

166028954-166066313 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 166063056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 132 (Q132L)

Ref Sequence

ENSEMBL: ENSMUSP00000045828 (fasta)

Gene Model

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

AlphaFold

Q8BVN9

Predicted Effect

probably damaging
Transcript: ENSMUST00000038782
AA Change: Q132L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045828
Gene: ENSMUSG00000040629
AA Change: Q132L

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: Q132L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141652
Gene: ENSMUSG00000040629
AA Change: Q132L

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

0.2278

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (66/66)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,625,754 (GRCm39)	T64A	probably damaging	Het
4933427I04Rik	A	T	4: 123,754,331 (GRCm39)	T82S	possibly damaging	Het
Adamts15	A	T	9: 30,832,743 (GRCm39)	I264N	probably damaging	Het
Alpk1	G	A	3: 127,477,203 (GRCm39)	A285V	probably damaging	Het
Auh	T	C	13: 53,067,002 (GRCm39)		probably benign	Het
Cacna2d3	A	G	14: 28,704,303 (GRCm39)	F826S	probably benign	Het
Ccdc54	G	T	16: 50,410,380 (GRCm39)	Y295*	probably null	Het
Ctnna3	G	A	10: 64,421,858 (GRCm39)	V551I	probably benign	Het
Diaph3	C	T	14: 87,223,473 (GRCm39)	C347Y	probably damaging	Het
Dnajb5	A	G	4: 42,950,842 (GRCm39)		probably benign	Het
Dscam	A	T	16: 96,519,196 (GRCm39)	I847K	possibly damaging	Het
Fam8a1	T	C	13: 46,824,742 (GRCm39)	F243S	probably damaging	Het
Fat2	T	C	11: 55,175,578 (GRCm39)	I1712V	possibly damaging	Het
Fgfr1	T	C	8: 26,063,852 (GRCm39)	V793A	probably damaging	Het
Got2	T	C	8: 96,598,814 (GRCm39)	E196G	probably benign	Het
Gsk3b	G	A	16: 37,991,063 (GRCm39)	C107Y	possibly damaging	Het
H2-M5	T	C	17: 37,298,697 (GRCm39)	T250A	possibly damaging	Het
Il17f	T	A	1: 20,848,026 (GRCm39)	T151S	probably damaging	Het
Ints12	A	G	3: 132,814,629 (GRCm39)	N279D	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kynu	T	A	2: 43,569,902 (GRCm39)	S395T	probably benign	Het
Llgl1	C	T	11: 60,597,147 (GRCm39)	T226I	probably benign	Het
Mcpt1	A	T	14: 56,256,109 (GRCm39)	R49S	probably benign	Het
Meioc	G	T	11: 102,564,992 (GRCm39)	G203C	probably damaging	Het
Mfsd4b1	A	G	10: 39,883,313 (GRCm39)	S46P	probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Mx2	C	A	16: 97,348,632 (GRCm39)	Y268*	probably null	Het
Myom1	A	G	17: 71,407,069 (GRCm39)	D1064G	possibly damaging	Het
Nek11	A	G	9: 105,270,046 (GRCm39)		probably null	Het
Nfe2	A	G	15: 103,157,232 (GRCm39)	L253S	probably damaging	Het
Nup205	T	C	6: 35,173,424 (GRCm39)	I478T	probably benign	Het
Nxpe2	T	C	9: 48,230,782 (GRCm39)	D529G	probably damaging	Het
Oard1	T	C	17: 48,722,267 (GRCm39)	S88P	possibly damaging	Het
Or11g25	A	G	14: 50,723,619 (GRCm39)	R235G	probably benign	Het
Or2p2	C	T	13: 21,256,692 (GRCm39)	V260I	probably benign	Het
Or4n4	G	A	14: 50,519,140 (GRCm39)	T190I	probably benign	Het
Or51k1	T	C	7: 103,661,624 (GRCm39)	D95G	probably benign	Het
Or52e5	T	C	7: 104,718,797 (GRCm39)	V41A	probably benign	Het
Or6k6	G	T	1: 173,944,886 (GRCm39)	T232N	probably damaging	Het
Or8b1	A	C	9: 38,400,057 (GRCm39)	H244P	probably damaging	Het
Osgin1	C	T	8: 120,171,992 (GRCm39)	T262I	possibly damaging	Het
Plcb4	A	T	2: 135,844,519 (GRCm39)	M146L	probably damaging	Het
Prkdc	A	T	16: 15,585,830 (GRCm39)	E2456V	possibly damaging	Het
Ptk2	G	A	15: 73,078,045 (GRCm39)	A1004V	probably damaging	Het
Rab15	G	A	12: 76,847,445 (GRCm39)		probably benign	Het
Rad51ap2	T	C	12: 11,507,881 (GRCm39)	V601A	probably benign	Het
Rasef	T	A	4: 73,698,626 (GRCm39)	I12F	possibly damaging	Het
Rdh14	T	A	12: 10,444,567 (GRCm39)	N139K	probably damaging	Het
Rexo2	A	T	9: 48,391,717 (GRCm39)	V46E	probably damaging	Het
Rskr	T	A	11: 78,182,473 (GRCm39)	V94D	possibly damaging	Het
Slmap	A	T	14: 26,186,772 (GRCm39)	L68H	probably damaging	Het
Speer3	C	G	5: 13,846,394 (GRCm39)	A238G	possibly damaging	Het
Tmem132e	T	C	11: 82,325,894 (GRCm39)	I206T	possibly damaging	Het
Trappc8	A	T	18: 20,970,005 (GRCm39)	V995E	probably benign	Het
Vmn2r12	A	C	5: 109,234,301 (GRCm39)	I637S	probably damaging	Het
Vmn2r124	T	C	17: 18,294,231 (GRCm39)	F773L	probably damaging	Het
Vmn2r99	A	T	17: 19,613,924 (GRCm39)	D548V	probably damaging	Het
Wdr81	T	C	11: 75,336,620 (GRCm39)	N1590D	probably benign	Het
Zbtb6	A	T	2: 37,319,054 (GRCm39)	N291K	possibly damaging	Het
Zfp119a	G	A	17: 56,173,325 (GRCm39)	R173C	probably benign	Het
Zmynd15	T	C	11: 70,355,008 (GRCm39)	L335P	probably damaging	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
R0218:Mael	UTSW	1	166,066,159 (GRCm39)	missense	probably damaging	1.00
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
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'- TGGGACTTAAGTCTTATGTCTATGCAC -3'
(R):5'- CTTGACAAATGTGGTTGCAAAG -3'

Sequencing Primer
(F):5'- GTCTATGCACTCTTTAAGAACCCAC -3'
(R):5'- GATTCACTAGCAAAGACAGA -3'

Posted On

2015-09-25