Mutagenetix > Incidental Mutation

Incidental Mutation 'R8519:Mael'

658503

Institutional Source

Beutler Lab

Gene Symbol

Mael

Ensembl Gene

ENSMUSG00000040629

Gene Name

maelstrom spermatogenic transposon silencer

Synonyms

4933405K18Rik

MMRRC Submission

067946-MU

Accession Numbers

Essential gene?

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

Stock #

R8519 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

166028954-166066313 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 166063127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141652 (fasta)

Gene Model

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

AlphaFold

Q8BVN9

Predicted Effect

probably null
Transcript: ENSMUST00000038782

SMART Domains

Protein: ENSMUSP00000045828
Gene: ENSMUSG00000040629

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 null
Transcript: ENSMUST00000038782

SMART Domains

Protein: ENSMUSP00000045828
Gene: ENSMUSG00000040629

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 null
Transcript: ENSMUST00000038782

SMART Domains

Protein: ENSMUSP00000045828
Gene: ENSMUSG00000040629

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 null
Transcript: ENSMUST00000194057

SMART Domains

Protein: ENSMUSP00000141652
Gene: ENSMUSG00000040629

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

Predicted Effect

probably null
Transcript: ENSMUST00000194057

SMART Domains

Protein: ENSMUSP00000141652
Gene: ENSMUSG00000040629

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

Predicted Effect

probably null
Transcript: ENSMUST00000194057

SMART Domains

Protein: ENSMUSP00000141652
Gene: ENSMUSG00000040629

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (67/67)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	T	C	10: 61,038,619 (GRCm39)	T964A	possibly damaging	Het
Adamts7	G	A	9: 90,075,610 (GRCm39)	W1156*	probably null	Het
Adcy9	T	C	16: 4,105,992 (GRCm39)	I1041V	possibly damaging	Het
Armh4	T	C	14: 50,010,693 (GRCm39)	D338G	probably damaging	Het
Art4	C	A	6: 136,831,349 (GRCm39)		probably null	Het
Bcl9	A	G	3: 97,116,334 (GRCm39)	S787P	probably benign	Het
Bptf	T	C	11: 106,952,590 (GRCm39)	T2088A	probably damaging	Het
Cdc45	T	C	16: 18,627,597 (GRCm39)	N76S	probably damaging	Het
Cdon	A	G	9: 35,389,950 (GRCm39)	D868G	probably damaging	Het
Cldn10	T	G	14: 119,092,439 (GRCm39)	V13G	probably benign	Het
Cnot6	G	T	11: 49,575,941 (GRCm39)	Q178K	probably benign	Het
Crot	T	C	5: 9,023,629 (GRCm39)	I420V	probably benign	Het
Csgalnact1	T	A	8: 68,854,105 (GRCm39)	H232L	possibly damaging	Het
Cuzd1	T	C	7: 130,910,626 (GRCm39)	I556M	possibly damaging	Het
Cyp2c54	G	A	19: 40,026,857 (GRCm39)	R433W	probably damaging	Het
Cyp2j11	A	G	4: 96,207,539 (GRCm39)	F259L	probably benign	Het
Dhx9	C	T	1: 153,348,922 (GRCm39)	G264R	probably damaging	Het
Dnah5	G	A	15: 28,299,245 (GRCm39)	V1536M	probably benign	Het
Erlin1	T	A	19: 44,058,041 (GRCm39)		probably benign	Het
Foxb2	C	A	19: 16,850,347 (GRCm39)	V220L	possibly damaging	Het
Gigyf2	A	T	1: 87,338,431 (GRCm39)	T388S	probably benign	Het
Gimap5	T	C	6: 48,730,068 (GRCm39)	C213R	probably benign	Het
Gkap1	T	G	13: 58,386,506 (GRCm39)	K57N	probably damaging	Het
H60b	T	G	10: 22,159,421 (GRCm39)		probably benign	Het
Hectd4	C	T	5: 121,442,489 (GRCm39)	R670*	probably null	Het
Hoxc9	A	G	15: 102,892,341 (GRCm39)	N185D	probably damaging	Het
Igkv1-117	A	G	6: 68,098,766 (GRCm39)	E105G	possibly damaging	Het
Klk10	T	A	7: 43,432,239 (GRCm39)	Y57*	probably null	Het
Lrrc63	A	T	14: 75,363,312 (GRCm39)	I273K	possibly damaging	Het
M6pr	T	C	6: 122,292,025 (GRCm39)	I119T	probably damaging	Het
Magi1	A	G	6: 93,681,330 (GRCm39)	S574P	possibly damaging	Het
Man2c1	A	G	9: 57,044,061 (GRCm39)	D291G	probably benign	Het
Mapk1ip1l	A	T	14: 47,547,920 (GRCm39)		probably benign	Het
Mrc2	A	G	11: 105,238,132 (GRCm39)	T1135A	possibly damaging	Het
Mrpl39	A	G	16: 84,527,736 (GRCm39)	V164A	probably benign	Het
Mynn	C	A	3: 30,661,290 (GRCm39)	P124H	probably damaging	Het
Or11l3	T	G	11: 58,516,800 (GRCm39)	Q23P	probably damaging	Het
Or14n1-ps1	A	T	7: 86,093,062 (GRCm39)	N291I	probably damaging	Het
Or2k2	A	G	4: 58,785,203 (GRCm39)	I173T	probably damaging	Het
Or2t48	A	G	11: 58,420,329 (GRCm39)	F161S	possibly damaging	Het
Or6k2	A	G	1: 173,986,614 (GRCm39)	I92V	probably damaging	Het
Pcif1	A	G	2: 164,726,303 (GRCm39)	N68S	probably damaging	Het
Pcm1	T	A	8: 41,728,976 (GRCm39)	N649K	probably damaging	Het
Pira1	T	C	7: 3,740,432 (GRCm39)	Q263R	probably benign	Het
Plxna2	T	A	1: 194,476,266 (GRCm39)	I1162N	probably damaging	Het
Pnp2	T	A	14: 51,201,842 (GRCm39)	L276Q	probably damaging	Het
Sirpb1c	T	A	3: 15,902,526 (GRCm39)	I18F	possibly damaging	Het
Slc2a12	A	T	10: 22,540,678 (GRCm39)	M178L	probably damaging	Het
Slc35c1	G	T	2: 92,285,052 (GRCm39)	F187L	probably benign	Het
Smg1	T	C	7: 117,770,982 (GRCm39)		probably benign	Het
Spmip6	A	G	4: 41,505,071 (GRCm39)	S214P	possibly damaging	Het
Spopfm2	T	C	3: 94,083,497 (GRCm39)	M105V	probably benign	Het
Stn1	T	C	19: 47,490,111 (GRCm39)	H342R	probably benign	Het
Sult1c2	A	T	17: 54,276,709 (GRCm39)	H117Q	probably damaging	Het
Thap1	G	A	8: 26,650,925 (GRCm39)	R42K	probably damaging	Het
Tpp2	A	T	1: 44,016,365 (GRCm39)		probably null	Het
Trib2	G	T	12: 15,865,347 (GRCm39)	P76Q	probably damaging	Het
Ttc24	G	T	3: 87,980,369 (GRCm39)	Q111K	probably damaging	Het
Ubr4	T	C	4: 139,143,958 (GRCm39)	S1401P	probably damaging	Het
Uggt1	A	C	1: 36,215,724 (GRCm39)		probably null	Het
Ugt2b1	A	G	5: 87,074,326 (GRCm39)	L11S	probably damaging	Het
Uso1	T	G	5: 92,343,222 (GRCm39)	S769A	probably benign	Het
Vmn2r117	T	C	17: 23,698,442 (GRCm39)	T44A	probably benign	Het
Vmn2r28	T	A	7: 5,489,347 (GRCm39)	L497F	probably benign	Het
Vsig10l	G	A	7: 43,114,326 (GRCm39)	S318N	probably benign	Het
Wbp4	A	G	14: 79,714,263 (GRCm39)	L83P	probably damaging	Het
Wnk1	G	A	6: 119,927,044 (GRCm39)	R1510W	probably damaging	Het
Zc3hav1l	C	T	6: 38,272,176 (GRCm39)	V198M	probably damaging	Het
Zfp1004	A	G	2: 150,034,700 (GRCm39)	I340M	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
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
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'- CTTTAAGAACCCACCAGCTCTTAAG -3'
(R):5'- AAGCTGTTGCAAGACTGAATAC -3'

Sequencing Primer
(F):5'- GCTCCTTAGGATCTATCAAATGCTGG -3'
(R):5'- CTTGACAAATGTGGTTGCAA -3'

Posted On

2021-01-18