Mutagenetix > Incidental Mutation

Incidental Mutation 'R9321:Spem1'

706222

Institutional Source

Beutler Lab

Gene Symbol

Spem1

Ensembl Gene

ENSMUSG00000041165

Gene Name

spermatid maturation 1

Synonyms

1700095G12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R9321 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69711697-69712991 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69712661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 58 (H58R)

Ref Sequence

ENSEMBL: ENSMUSP00000037500 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045771] [ENSMUST00000056484] [ENSMUST00000056941] [ENSMUST00000108634]

AlphaFold

Q5F289

Predicted Effect

probably benign
Transcript: ENSMUST00000045771
AA Change: H58R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000037500
Gene: ENSMUSG00000041165
AA Change: H58R

Domain	Start	End	E-Value	Type
Pfam:Spem1	12	196	3.7e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056484

SMART Domains

Protein: ENSMUSP00000053097
Gene: ENSMUSG00000051790

Domain	Start	End	E-Value	Type
Pfam:COesterase	31	601	1.6e-199	PFAM
Pfam:Abhydrolase_3	180	372	4.8e-9	PFAM
low complexity region	630	652	N/A	INTRINSIC
transmembrane domain	678	700	N/A	INTRINSIC
low complexity region	702	712	N/A	INTRINSIC
low complexity region	713	731	N/A	INTRINSIC
low complexity region	782	823	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000056941

SMART Domains

Protein: ENSMUSP00000051204
Gene: ENSMUSG00000044084

Domain	Start	End	E-Value	Type
Pfam:Spem1	1	261	2e-121	PFAM
low complexity region	281	294	N/A	INTRINSIC
low complexity region	478	494	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108634

SMART Domains

Protein: ENSMUSP00000104274
Gene: ENSMUSG00000051790

Domain	Start	End	E-Value	Type
Pfam:COesterase	30	601	2e-186	PFAM
Pfam:Abhydrolase_3	180	327	3.3e-9	PFAM
low complexity region	630	652	N/A	INTRINSIC
transmembrane domain	678	700	N/A	INTRINSIC
low complexity region	702	712	N/A	INTRINSIC
low complexity region	713	731	N/A	INTRINSIC
low complexity region	782	823	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Male mice homozygous for a null allele display infertility, asthenozoospermia, teratozoospermia, and impaired spermiogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,460,475 (GRCm39)	S4162G	probably benign	Het
Acvr2b	T	C	9: 119,257,351 (GRCm39)	I152T	probably benign	Het
Adam15	T	A	3: 89,254,794 (GRCm39)		probably null	Het
Adam34	C	T	8: 44,105,243 (GRCm39)	G134D	probably damaging	Het
Aifm2	C	T	10: 61,571,410 (GRCm39)	Q315*	probably null	Het
Akap10	A	G	11: 61,791,235 (GRCm39)	F408S	probably damaging	Het
Ap3b2	T	C	7: 81,114,252 (GRCm39)		probably null	Het
Btbd2	A	C	10: 80,483,675 (GRCm39)	V181G	probably damaging	Het
Carmil3	G	T	14: 55,741,425 (GRCm39)	G1070V		Het
Ceacam2	G	T	7: 25,230,089 (GRCm39)	D172E	possibly damaging	Het
Crtc3	G	A	7: 80,259,650 (GRCm39)	A203V	probably benign	Het
Dclre1a	A	G	19: 56,531,100 (GRCm39)	S749P	probably damaging	Het
Dnah2	C	T	11: 69,338,939 (GRCm39)		probably null	Het
Eif2ak4	G	A	2: 118,292,798 (GRCm39)	V1341M	possibly damaging	Het
Enpp5	T	C	17: 44,393,689 (GRCm39)	V295A	possibly damaging	Het
Gm1110	T	A	9: 26,831,891 (GRCm39)	M87L	probably benign	Het
Gm57858	A	T	3: 36,073,139 (GRCm39)	V381E	probably damaging	Het
H2-Ab1	T	C	17: 34,486,969 (GRCm39)	L241P	probably damaging	Het
Hmx2	A	G	7: 131,157,320 (GRCm39)	T145A	probably benign	Het
Irag1	A	G	7: 110,524,534 (GRCm39)	S138P	probably benign	Het
Itpripl1	T	C	2: 126,984,000 (GRCm39)	S41G	probably benign	Het
Kcnb2	G	A	1: 15,779,793 (GRCm39)	D222N	possibly damaging	Het
Ldb3	C	A	14: 34,266,099 (GRCm39)	G499*	probably null	Het
Lig1	T	C	7: 13,034,935 (GRCm39)	F577S	probably damaging	Het
Lnx1	T	C	5: 74,780,991 (GRCm39)	I177V	probably damaging	Het
Mark4	G	T	7: 19,170,901 (GRCm39)	T323K	probably benign	Het
Mroh5	A	G	15: 73,661,113 (GRCm39)	V301A	probably benign	Het
Mtx3	T	A	13: 92,984,097 (GRCm39)	W125R	probably damaging	Het
Myo18a	G	A	11: 77,733,370 (GRCm39)	G1404R	probably damaging	Het
Myom2	C	T	8: 15,172,464 (GRCm39)	P1188S	possibly damaging	Het
Nars1	C	T	18: 64,637,950 (GRCm39)	E335K	probably damaging	Het
Nfya	A	T	17: 48,707,494 (GRCm39)	V16E	unknown	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nlrp4e	C	G	7: 23,020,755 (GRCm39)	A414G	probably benign	Het
Nme5	T	G	18: 34,704,597 (GRCm39)	I83L	probably benign	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nptx1	A	G	11: 119,438,378 (GRCm39)	L13P	unknown	Het
Or11g27	G	A	14: 50,771,471 (GRCm39)	V201I	probably benign	Het
Or13c25	G	T	4: 52,911,314 (GRCm39)	T160N	probably damaging	Het
Or13m2-ps1	T	A	6: 42,777,792 (GRCm39)	V39D	possibly damaging	Het
Or4k44	A	G	2: 111,368,434 (GRCm39)	S67P	probably damaging	Het
Or5j3	A	T	2: 86,128,297 (GRCm39)	I46F	probably benign	Het
Or6d13	T	C	6: 116,518,370 (GRCm39)	Y319H	probably benign	Het
Pdzd2	T	C	15: 12,386,023 (GRCm39)	T916A	probably benign	Het
Plekha6	A	G	1: 133,209,549 (GRCm39)	N615S	probably damaging	Het
Prorp	A	G	12: 55,351,434 (GRCm39)	I248V	possibly damaging	Het
Rad52	T	C	6: 119,889,969 (GRCm39)	Y32H	probably damaging	Het
Slc22a16	T	A	10: 40,450,047 (GRCm39)	I161N	probably damaging	Het
Slx4	A	G	16: 3,804,654 (GRCm39)	M720T	probably benign	Het
Spg7	C	A	8: 123,803,688 (GRCm39)	D239E	probably benign	Het
Tas2r123	A	T	6: 132,825,095 (GRCm39)	M331L	probably benign	Het
Tcaf1	T	C	6: 42,656,290 (GRCm39)	T229A	probably benign	Het
Tdrd1	T	C	19: 56,848,767 (GRCm39)	L939P	probably damaging	Het
Timd2	T	C	11: 46,577,916 (GRCm39)	T72A	probably benign	Het
Tmem179	G	T	12: 112,477,390 (GRCm39)	N31K	probably damaging	Het
Tpd52l1	T	C	10: 31,214,189 (GRCm39)	S165G		Het
Tubgcp6	T	C	15: 88,992,186 (GRCm39)	T600A	probably damaging	Het
Txlna	T	A	4: 129,528,246 (GRCm39)	E230D	probably damaging	Het
Ush2a	A	T	1: 188,089,148 (GRCm39)	I368F	probably damaging	Het
Vmn1r76	A	T	7: 11,665,094 (GRCm39)	M40K	possibly damaging	Het
Zfp592	C	T	7: 80,691,226 (GRCm39)	S1135L	possibly damaging	Het
Zfp606	A	G	7: 12,226,610 (GRCm39)	T244A	possibly damaging	Het

Other mutations in Spem1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00902:Spem1	APN	11	69,712,643 (GRCm39)	missense	probably damaging	1.00
R0118:Spem1	UTSW	11	69,712,371 (GRCm39)	missense	possibly damaging	0.92
R0487:Spem1	UTSW	11	69,712,691 (GRCm39)	critical splice acceptor site	probably null
R0734:Spem1	UTSW	11	69,712,097 (GRCm39)	missense	probably damaging	1.00
R2483:Spem1	UTSW	11	69,712,344 (GRCm39)	missense	possibly damaging	0.95
R4522:Spem1	UTSW	11	69,712,631 (GRCm39)	critical splice donor site	probably null
R4866:Spem1	UTSW	11	69,711,755 (GRCm39)	missense	probably damaging	1.00
R5297:Spem1	UTSW	11	69,711,753 (GRCm39)	missense	probably damaging	1.00
R5404:Spem1	UTSW	11	69,711,763 (GRCm39)	missense	probably damaging	1.00
R5672:Spem1	UTSW	11	69,712,263 (GRCm39)	missense	probably damaging	1.00
R5989:Spem1	UTSW	11	69,711,951 (GRCm39)	missense	possibly damaging	0.65
R6803:Spem1	UTSW	11	69,711,974 (GRCm39)	missense	possibly damaging	0.84
R7234:Spem1	UTSW	11	69,712,630 (GRCm39)	critical splice donor site	probably null
R7631:Spem1	UTSW	11	69,712,409 (GRCm39)	missense	probably benign	0.00
R9137:Spem1	UTSW	11	69,712,433 (GRCm39)	missense	probably benign
R9373:Spem1	UTSW	11	69,712,640 (GRCm39)	missense	probably benign	0.01
R9461:Spem1	UTSW	11	69,711,741 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- AGGCTAGCTTCTAGAGAGATGG -3'
(R):5'- GGTGGGCCTCGTATCAAAAC -3'

Sequencing Primer
(F):5'- CTAGCTTCTAGAGAGATGGATGGG -3'
(R):5'- GACATGGGAAACTCCATTCTGCTG -3'

Posted On

2022-04-18