Mutagenetix > Incidental Mutation

Incidental Mutation 'R0118:Spem1'

20938

Institutional Source

Beutler Lab

Gene Symbol

Spem1

Ensembl Gene

ENSMUSG00000041165

Gene Name

spermatid maturation 1

Synonyms

1700095G12Rik

MMRRC Submission

038404-MU

Accession Numbers

Essential gene?

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

Stock #

R0118 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

69711697-69712991 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69712371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 98 (K98E)

Ref Sequence

ENSEMBL: ENSMUSP00000037500 (fasta)

Gene Model

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

AlphaFold

Q5F289

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045771
AA Change: K98E

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037500
Gene: ENSMUSG00000041165
AA Change: K98E

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.8%
3x: 97.2%
10x: 89.3%
20x: 67.4%

Validation Efficiency

98% (50/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	T	C	9: 30,823,040 (GRCm39)	R343G	probably damaging	Het
Asxl2	T	G	12: 3,546,923 (GRCm39)	V569G	probably damaging	Het
Azin2	A	C	4: 128,843,430 (GRCm39)	H85Q	probably damaging	Het
Cacna1a	C	T	8: 85,262,712 (GRCm39)	R324C	probably damaging	Het
Ccr3	C	A	9: 123,829,647 (GRCm39)	Y327*	probably null	Het
Cers2	T	C	3: 95,227,537 (GRCm39)	F55S	probably benign	Het
Cic	C	T	7: 24,985,459 (GRCm39)	S301L	probably damaging	Het
Cntnap2	T	C	6: 45,037,326 (GRCm39)		probably null	Het
Cpn2	T	C	16: 30,079,186 (GRCm39)	R172G	probably benign	Het
Ctdnep1	T	C	11: 69,879,557 (GRCm39)		probably null	Het
Dennd3	T	A	15: 73,436,925 (GRCm39)	Y1051N	probably damaging	Het
Dmap1	T	G	4: 117,533,680 (GRCm39)	Y196S	probably damaging	Het
Entpd7	G	A	19: 43,692,751 (GRCm39)	W102*	probably null	Het
Frem2	A	T	3: 53,442,664 (GRCm39)	C2624*	probably null	Het
Gdpd3	A	G	7: 126,370,165 (GRCm39)	Y238C	probably damaging	Het
Gjb3	A	G	4: 127,220,451 (GRCm39)	V27A	probably damaging	Het
Kat6b	T	C	14: 21,720,042 (GRCm39)	F1465L	probably damaging	Het
Klra17	A	T	6: 129,808,552 (GRCm39)	M227K	probably benign	Het
Map6	A	G	7: 98,966,824 (GRCm39)	D348G	possibly damaging	Het
Mapkbp1	T	C	2: 119,855,696 (GRCm39)	S1472P	probably benign	Het
Megf6	C	A	4: 154,339,098 (GRCm39)	P545Q	probably damaging	Het
Mertk	C	T	2: 128,601,086 (GRCm39)	R357W	probably damaging	Het
Mesd	T	A	7: 83,544,835 (GRCm39)	I104N	probably damaging	Het
Mrm3	T	A	11: 76,140,781 (GRCm39)	V263E	possibly damaging	Het
Ndst4	T	A	3: 125,405,210 (GRCm39)	Y488*	probably null	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nfs1	T	C	2: 155,976,444 (GRCm39)	H150R	probably damaging	Het
Odad3	A	T	9: 21,906,353 (GRCm39)	N224K	probably benign	Het
Or1n1b	A	G	2: 36,780,035 (GRCm39)	M275T	probably benign	Het
Or8b56	T	C	9: 38,739,154 (GRCm39)	S50P	possibly damaging	Het
Or8g19	T	A	9: 39,055,399 (GRCm39)	M1K	probably null	Het
Or9q1	A	G	19: 13,804,929 (GRCm39)	F277S	possibly damaging	Het
Pcdh8	T	C	14: 80,004,848 (GRCm39)	Y1059C	probably damaging	Het
Pik3r5	T	A	11: 68,381,306 (GRCm39)	L164Q	probably damaging	Het
Polr3g	T	C	13: 81,824,240 (GRCm39)		probably benign	Het
Ppm1e	T	A	11: 87,122,564 (GRCm39)	K464N	probably benign	Het
Rims1	T	C	1: 22,416,631 (GRCm39)	T1037A	probably damaging	Het
Rpgrip1l	A	T	8: 91,996,750 (GRCm39)	I108N	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,127,419 (GRCm39)		probably benign	Het
St7l	T	C	3: 104,796,619 (GRCm39)	V237A	probably damaging	Het
Tbc1d16	T	C	11: 119,048,642 (GRCm39)	H337R	probably damaging	Het
Tbc1d32	T	A	10: 55,893,701 (GRCm39)	I1291F	probably benign	Het
Tnfaip6	G	T	2: 51,933,827 (GRCm39)	E61*	probably null	Het
Trib2	A	T	12: 15,843,929 (GRCm39)	W102R	probably damaging	Het
Uimc1	G	T	13: 55,233,457 (GRCm39)	N66K	probably damaging	Het
Vmn1r63	T	A	7: 5,805,838 (GRCm39)	T265S	probably benign	Het
Vps35	G	A	8: 86,021,582 (GRCm39)	T3I	probably benign	Het
Yeats2	T	A	16: 19,975,692 (GRCm39)	L63*	probably null	Het
Zfp282	A	G	6: 47,869,866 (GRCm39)	R304G	probably benign	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
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
R9321:Spem1	UTSW	11	69,712,661 (GRCm39)	missense	probably benign	0.01
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'- ACACCTCCTGCATAGATTGAAAGCC -3'
(R):5'- AATCCGCATCCTCTTACACCGAATG -3'

Sequencing Primer
(F):5'- TGCATAGATTGAAAGCCTTCCC -3'
(R):5'- GCTCCTTAAGACGGAGTTGC -3'

Posted On

2013-04-11