Mutagenetix > Incidental Mutation

Incidental Mutation 'R2096:Mael'

232082

Institutional Source

Beutler Lab

Gene Symbol

Mael

Ensembl Gene

ENSMUSG00000040629

Gene Name

maelstrom spermatogenic transposon silencer

Synonyms

4933405K18Rik

MMRRC Submission

040100-MU

Accession Numbers

Essential gene?

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

Stock #

R2096 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

166028954-166066313 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 166053244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 254 (Q254K)

Ref Sequence

ENSEMBL: ENSMUSP00000045828 (fasta)

Gene Model

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

AlphaFold

Q8BVN9

Predicted Effect

probably benign
Transcript: ENSMUST00000038782
AA Change: Q254K

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000045828
Gene: ENSMUSG00000040629
AA Change: Q254K

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 benign
Transcript: ENSMUST00000194057
AA Change: Q240K

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000141652
Gene: ENSMUSG00000040629
AA Change: Q240K

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	A	G	8: 124,709,195 (GRCm39)	S120P	probably benign	Het
Actr3b	T	A	5: 26,036,743 (GRCm39)	Y185*	probably null	Het
Atg101	T	A	15: 101,188,382 (GRCm39)	H162Q	possibly damaging	Het
Btf3	T	A	13: 98,449,659 (GRCm39)	Q109L	possibly damaging	Het
Camk2d	G	A	3: 126,574,091 (GRCm39)	G166D	probably damaging	Het
Capn7	T	G	14: 31,071,844 (GRCm39)		probably null	Het
Cd209f	A	G	8: 4,155,537 (GRCm39)	V17A	probably benign	Het
Cenpf	A	G	1: 189,385,656 (GRCm39)	V2208A	possibly damaging	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Comp	T	C	8: 70,828,713 (GRCm39)	C182R	probably damaging	Het
Ctsl	A	G	13: 64,516,840 (GRCm39)		probably null	Het
Cyp3a44	G	T	5: 145,725,215 (GRCm39)	Q329K	probably damaging	Het
Dcpp1	A	T	17: 24,099,971 (GRCm39)		probably null	Het
Dhx38	A	G	8: 110,280,891 (GRCm39)	V831A	probably damaging	Het
Dkk2	T	C	3: 131,791,858 (GRCm39)	M22T	probably benign	Het
Dnah2	C	T	11: 69,346,742 (GRCm39)	E2615K	probably damaging	Het
Dpy19l3	A	G	7: 35,426,713 (GRCm39)		probably null	Het
Gm12888	T	G	4: 121,176,655 (GRCm39)	I49L	probably benign	Het
Insyn2b	C	A	11: 34,352,936 (GRCm39)	S326Y	probably benign	Het
Kif15	T	A	9: 122,815,252 (GRCm39)	M194K	probably damaging	Het
Nek9	T	C	12: 85,361,322 (GRCm39)	D461G	probably benign	Het
Nlrp12	T	C	7: 3,281,825 (GRCm39)	N819S	probably benign	Het
Ntng1	T	A	3: 109,739,871 (GRCm39)	N390Y	probably damaging	Het
Or5g25	A	G	2: 85,478,434 (GRCm39)	I77T	probably benign	Het
P2ry14	C	T	3: 59,022,738 (GRCm39)	V250I	probably damaging	Het
Pcnx2	A	T	8: 126,485,987 (GRCm39)	D1870E	probably benign	Het
Phf2	T	A	13: 48,985,589 (GRCm39)	K64*	probably null	Het
Phip	T	C	9: 82,797,392 (GRCm39)	H537R	possibly damaging	Het
Ppa2	A	G	3: 133,032,445 (GRCm39)	T97A	probably damaging	Het
Psd	G	A	19: 46,313,088 (GRCm39)		probably null	Het
Psg23	T	A	7: 18,348,668 (GRCm39)	E46D	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rab11b	A	G	17: 33,967,976 (GRCm39)	Y74H	probably damaging	Het
Rfc3	A	T	5: 151,568,383 (GRCm39)	S194R	probably benign	Het
Sema4d	A	T	13: 51,864,037 (GRCm39)	I414N	probably damaging	Het
Serpinb1a	A	T	13: 33,031,437 (GRCm39)	D120E	probably damaging	Het
Snai2	T	A	16: 14,524,861 (GRCm39)	H122Q	possibly damaging	Het
Spats2l	T	C	1: 57,985,458 (GRCm39)	S504P	probably benign	Het
Sprr2j-ps	T	C	3: 92,326,412 (GRCm39)	S96P	unknown	Het
Sspo	G	T	6: 48,438,608 (GRCm39)	V1559L	probably benign	Het
Tas2r118	T	G	6: 23,969,912 (GRCm39)	I50L	possibly damaging	Het
Tdrd3	C	T	14: 87,743,788 (GRCm39)	Q573*	probably null	Het
Thoc2l	T	C	5: 104,667,835 (GRCm39)	S786P	possibly damaging	Het
Tlnrd1	G	A	7: 83,532,062 (GRCm39)	T123I	probably benign	Het
Tmem214	T	A	5: 31,033,714 (GRCm39)	L555H	probably damaging	Het
Tmprss12	T	A	15: 100,183,117 (GRCm39)	M153K	probably benign	Het
Tmprss9	G	A	10: 80,725,268 (GRCm39)	G410S	probably damaging	Het
Trpm6	T	A	19: 18,803,116 (GRCm39)	M853K	probably damaging	Het
Vmn1r35	A	G	6: 66,655,929 (GRCm39)	I247T	possibly damaging	Het
Zcchc7	C	A	4: 44,931,059 (GRCm39)	P404T	probably damaging	Het
Zzef1	T	C	11: 72,763,465 (GRCm39)	F1371L	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
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
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'- GGTTAAAACTAGTAGGTCATTTGGC -3'
(R):5'- GCATCAGGTGAGTGGAACTG -3'

Sequencing Primer
(F):5'- CTGGTTCAGTAGTAAAGAGCACCTC -3'
(R):5'- AACTGGGGTCATTGCGG -3'

Posted On

2014-09-18