Mutagenetix > Incidental Mutation

Incidental Mutation 'R9271:Mael'

702893

Institutional Source

Beutler Lab

Gene Symbol

Mael

Ensembl Gene

ENSMUSG00000040629

Gene Name

maelstrom spermatogenic transposon silencer

Synonyms

4933405K18Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9271 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

166028954-166066313 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 166032424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 326 (Q326K)

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: Q326K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000045828
Gene: ENSMUSG00000040629
AA Change: Q326K

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: Q312K

PolyPhen 2 Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000141652
Gene: ENSMUSG00000040629
AA Change: Q312K

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

0.0577

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (107/107)

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 119,901,940 (GRCm39)	S819T	probably damaging	Het
Abca13	A	T	11: 9,241,698 (GRCm39)	D1187V	probably damaging	Het
Ak9	C	A	10: 41,300,623 (GRCm39)	T1611K	unknown	Het
Als2	G	T	1: 59,242,189 (GRCm39)	T622K	probably benign	Het
Ankrd40	G	A	11: 94,225,262 (GRCm39)	A98T	probably benign	Het
Ap1b1	T	C	11: 4,973,174 (GRCm39)	L339P	probably damaging	Het
Appl1	A	C	14: 26,669,084 (GRCm39)	H363Q	probably benign	Het
Atf6	T	C	1: 170,622,245 (GRCm39)	N459D	probably damaging	Het
Ccdc6	A	T	10: 70,024,993 (GRCm39)	Q432L	unknown	Het
Ccl21a	T	A	4: 42,773,486 (GRCm39)	Q84L	probably damaging	Het
Cct4	A	G	11: 22,951,389 (GRCm39)	I348V	probably benign	Het
Cd300ld2	A	G	11: 114,904,550 (GRCm39)	Y106H	probably damaging	Het
Cdh19	C	T	1: 110,876,947 (GRCm39)	E131K	probably damaging	Het
Cdon	A	G	9: 35,403,175 (GRCm39)	D1095G	probably damaging	Het
Cep85l	T	A	10: 53,157,670 (GRCm39)	R678*	probably null	Het
Chst3	T	A	10: 60,021,465 (GRCm39)	S461C	probably damaging	Het
Clk1	A	G	1: 58,459,312 (GRCm39)	I149T	possibly damaging	Het
Clvs2	T	A	10: 33,389,301 (GRCm39)	D313V	possibly damaging	Het
Dap3	T	C	3: 88,840,913 (GRCm39)	T75A	probably benign	Het
Dnaaf1	T	A	8: 120,324,392 (GRCm39)	F631L	probably benign	Het
Dnah14	A	T	1: 181,597,325 (GRCm39)	N3549I	probably benign	Het
Dnah17	A	T	11: 117,931,870 (GRCm39)	Y3701N	probably damaging	Het
Dock6	A	G	9: 21,752,796 (GRCm39)	V339A	possibly damaging	Het
Dpp6	T	A	5: 27,803,832 (GRCm39)	C259*	probably null	Het
Dqx1	A	G	6: 83,036,024 (GRCm39)	T119A	probably benign	Het
Dync1h1	G	T	12: 110,583,310 (GRCm39)	R469L	probably benign	Het
Eno4	C	T	19: 58,951,260 (GRCm39)	A424V	probably benign	Het
Entrep1	A	T	19: 23,972,221 (GRCm39)	I161N	possibly damaging	Het
Fads1	T	A	19: 10,163,162 (GRCm39)	D146E	probably damaging	Het
Fam171a1	C	T	2: 3,224,543 (GRCm39)	T303M	probably damaging	Het
Fbxw20	C	T	9: 109,050,423 (GRCm39)	D401N	probably benign	Het
Fcho1	T	A	8: 72,163,068 (GRCm39)	T654S	possibly damaging	Het
Flad1	C	A	3: 89,315,858 (GRCm39)	E235*	probably null	Het
Flrt2	G	T	12: 95,745,907 (GRCm39)	A82S	probably benign	Het
Gabrg3	A	T	7: 56,829,386 (GRCm39)	S124T	probably benign	Het
Galt	C	T	4: 41,756,777 (GRCm39)	T139I	probably benign	Het
Garin4	A	G	1: 190,895,153 (GRCm39)	S497P	probably damaging	Het
Gfod1	T	C	13: 43,456,861 (GRCm39)	E38G	possibly damaging	Het
Gm10330	A	G	12: 23,829,992 (GRCm39)	I63T	possibly damaging	Het
Gm3033	A	T	14: 3,846,968 (GRCm38)	N28I		Het
Gm49359	A	G	13: 62,602,867 (GRCm39)	V111A	probably benign	Het
Gpank1	C	T	17: 35,340,734 (GRCm39)		probably benign	Het
Hck	T	C	2: 152,973,185 (GRCm39)	L156P	probably damaging	Het
Hcn3	G	T	3: 89,057,267 (GRCm39)	R444S	probably damaging	Het
Hephl1	T	C	9: 14,988,236 (GRCm39)	N624S	probably damaging	Het
Hmcn1	A	G	1: 150,632,309 (GRCm39)	I876T	probably damaging	Het
Itga9	T	A	9: 118,500,859 (GRCm39)	D377E	possibly damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Itprid1	G	T	6: 55,944,051 (GRCm39)	R417L	probably benign	Het
Kcnk1	T	A	8: 126,752,152 (GRCm39)		probably null	Het
Klk1b11	C	T	7: 43,425,954 (GRCm39)	L32F	probably benign	Het
Lta4h	A	G	10: 93,310,412 (GRCm39)	S427G	probably benign	Het
Lxn	T	A	3: 67,368,651 (GRCm39)	I122F	probably damaging	Het
Lyz1	A	G	10: 117,124,492 (GRCm39)	V148A	possibly damaging	Het
Magi3	T	C	3: 103,923,264 (GRCm39)	D1151G	possibly damaging	Het
Map3k9	C	A	12: 81,769,261 (GRCm39)	G929V	probably benign	Het
Mcoln1	A	G	8: 3,555,771 (GRCm39)	Y22C	probably damaging	Het
Mier3	G	T	13: 111,827,870 (GRCm39)	M45I	probably benign	Het
Mrpl1	T	C	5: 96,371,746 (GRCm39)	V91A	probably damaging	Het
Msra	T	C	14: 64,471,269 (GRCm39)		probably null	Het
Myo7a	T	C	7: 97,740,281 (GRCm39)	H571R	probably benign	Het
Myom1	T	A	17: 71,374,325 (GRCm39)	W601R	probably damaging	Het
Myom3	C	T	4: 135,505,479 (GRCm39)	T456I	probably benign	Het
Nags	A	T	11: 102,037,584 (GRCm39)	H225L	probably benign	Het
Ncaph	C	A	2: 126,958,554 (GRCm39)	K488N	probably damaging	Het
Nkain3	C	T	4: 20,484,897 (GRCm39)	R60H	probably damaging	Het
Nlrp9a	A	T	7: 26,261,944 (GRCm39)	M698L	probably benign	Het
Nmur2	A	C	11: 55,931,308 (GRCm39)	I134M	probably benign	Het
Nrp2	A	C	1: 62,784,670 (GRCm39)	E273A	probably benign	Het
Nup85	A	G	11: 115,468,787 (GRCm39)	D210G	possibly damaging	Het
Obscn	A	G	11: 59,006,643 (GRCm39)	F1173S	probably damaging	Het
Or5ac24	A	T	16: 59,165,145 (GRCm39)	C306*	probably null	Het
Otogl	T	A	10: 107,652,974 (GRCm39)	E1126V	probably null	Het
Pfkl	T	C	10: 77,833,426 (GRCm39)	I259V	probably benign	Het
Phkg1	A	T	5: 129,893,863 (GRCm39)	Y291N	probably benign	Het
Piezo2	T	G	18: 63,163,450 (GRCm39)	H2156P	probably damaging	Het
Piezo2	C	A	18: 63,208,790 (GRCm39)	V1408L	probably damaging	Het
Pira13	T	A	7: 3,819,997 (GRCm39)	E640V	unknown	Het
Pkd2	A	G	5: 104,626,959 (GRCm39)		probably null	Het
Plekhg3	A	G	12: 76,622,694 (GRCm39)	T646A	probably benign	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ppp1r12a	T	C	10: 108,098,224 (GRCm39)	S838P	probably damaging	Het
Rarb	A	T	14: 16,435,235 (GRCm38)	Y270*	probably null	Het
Rbm15	T	C	3: 107,239,312 (GRCm39)	E362G	possibly damaging	Het
Rcan1	A	G	16: 92,262,741 (GRCm39)	F76L		Het
Rdh19	T	C	10: 127,696,142 (GRCm39)	L298P	probably damaging	Het
Rims1	T	A	1: 22,498,773 (GRCm39)	H57L		Het
Rlf	T	C	4: 121,004,751 (GRCm39)	T1520A	probably benign	Het
Rnase1	T	A	14: 51,382,964 (GRCm39)	H130L	possibly damaging	Het
Samd8	T	A	14: 21,842,569 (GRCm39)	M360K	probably damaging	Het
Samhd1	A	G	2: 156,956,205 (GRCm39)	L329P	probably damaging	Het
Scube1	C	T	15: 83,494,394 (GRCm39)	E878K	probably damaging	Het
Sema3b	T	C	9: 107,476,154 (GRCm39)	Y689C	probably damaging	Het
Semp2l2a	T	C	8: 13,886,697 (GRCm39)	T465A	possibly damaging	Het
Sgo1	T	C	17: 53,983,931 (GRCm39)		probably benign	Het
Sh3pxd2b	A	T	11: 32,373,361 (GRCm39)	N843Y	possibly damaging	Het
Slco1a6	C	T	6: 142,035,575 (GRCm39)	C583Y	probably damaging	Het
Smg1	A	C	7: 117,811,786 (GRCm39)	V88G	unknown	Het
Spata24	T	A	18: 35,790,054 (GRCm39)	N146Y	probably damaging	Het
Tcf3	C	A	10: 80,253,191 (GRCm39)	V258L	probably benign	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tiam2	T	C	17: 3,465,011 (GRCm39)	Y247H	probably damaging	Het
Ticrr	T	C	7: 79,310,604 (GRCm39)	F173L	possibly damaging	Het
Tpp2	A	G	1: 43,993,811 (GRCm39)	E232G	probably damaging	Het
Trank1	T	A	9: 111,174,547 (GRCm39)	V138E	probably damaging	Het
Ttll3	T	C	6: 113,369,596 (GRCm39)	S47P	probably benign	Het
Utp4	C	T	8: 107,632,857 (GRCm39)	T280M	probably damaging	Het
Vmn1r123	A	T	7: 20,896,794 (GRCm39)	N229Y	probably benign	Het
Vmn1r85	A	T	7: 12,818,942 (GRCm39)	Y67*	probably null	Het
Zbtb12	T	A	17: 35,114,320 (GRCm39)	V35E	possibly damaging	Het
Zmym6	T	A	4: 127,017,854 (GRCm39)	F1212I	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
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
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'- CTGATTGCCCAGTTGACTTGC -3'
(R):5'- TAGAATTCCACTCCTGAGATGCTTTC -3'

Sequencing Primer
(F):5'- CCTGGATGGCATGGATTTCAAAAC -3'
(R):5'- CACTCCTGAGATGCTTTCTTTGTTGG -3'

Posted On

2022-03-25