Mutagenetix > Incidental Mutation

Incidental Mutation 'R5297:Spem1'

405497

Institutional Source

Beutler Lab

Gene Symbol

Spem1

Ensembl Gene

ENSMUSG00000041165

Gene Name

spermatid maturation 1

Synonyms

1700095G12Rik

MMRRC Submission

042880-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R5297 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69711697-69712991 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69711753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 304 (Y304H)

Ref Sequence

ENSEMBL: ENSMUSP00000037500 (fasta)

Gene Model

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

AlphaFold

Q5F289

Predicted Effect

probably damaging
Transcript: ENSMUST00000045771
AA Change: Y304H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037500
Gene: ENSMUSG00000041165
AA Change: Y304H

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: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	G	T	1: 155,463,204 (GRCm39)	A135S	probably benign	Het
Agbl4	A	G	4: 111,423,895 (GRCm39)	K307R	possibly damaging	Het
Akna	T	C	4: 63,300,083 (GRCm39)	E653G	possibly damaging	Het
Arhgap26	T	C	18: 39,254,941 (GRCm39)	Y273H	probably damaging	Het
Atg14	G	A	14: 47,805,656 (GRCm39)	R70C	probably damaging	Het
Atp1a1	C	T	3: 101,498,443 (GRCm39)	V250M	possibly damaging	Het
Cacna1c	T	G	6: 118,719,322 (GRCm39)	D215A	probably damaging	Het
Cadps	T	A	14: 12,822,345 (GRCm38)	N132Y	probably damaging	Het
Casp6	T	C	3: 129,704,204 (GRCm39)	F97L	possibly damaging	Het
Ckap2l	T	C	2: 129,127,290 (GRCm39)	N296S	possibly damaging	Het
Col6a4	T	C	9: 105,952,066 (GRCm39)	K611E	probably benign	Het
Copa	A	G	1: 171,940,675 (GRCm39)	H696R	probably damaging	Het
Cyp2a4	T	A	7: 26,011,629 (GRCm39)	N283K	probably benign	Het
Dcc	C	T	18: 71,511,809 (GRCm39)	V869I	probably benign	Het
Efemp1	G	T	11: 28,817,868 (GRCm39)	G116C	probably damaging	Het
F830045P16Rik	T	C	2: 129,302,473 (GRCm39)	E373G	probably benign	Het
Fbxo9	T	C	9: 77,993,561 (GRCm39)	T318A	probably benign	Het
Gipr	A	G	7: 18,891,469 (GRCm39)	W403R	probably damaging	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Golgb1	G	A	16: 36,695,978 (GRCm39)		probably benign	Het
Hdac1-ps	A	G	17: 78,800,187 (GRCm39)	S393G	probably benign	Het
Herc3	T	C	6: 58,833,626 (GRCm39)	L171P	probably damaging	Het
Il5ra	A	G	6: 106,715,095 (GRCm39)	I221T	probably benign	Het
Itgb2	A	G	10: 77,400,501 (GRCm39)	I705V	probably damaging	Het
Map4k4	G	T	1: 40,001,377 (GRCm39)	V55F	probably damaging	Het
Mast1	A	G	8: 85,639,947 (GRCm39)		probably null	Het
Mitf	G	T	6: 97,971,391 (GRCm39)	G186V	probably benign	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Nrcam	T	C	12: 44,591,567 (GRCm39)	F204L	probably damaging	Het
Or10g1	A	G	14: 52,647,675 (GRCm39)	L218P	probably damaging	Het
Or10x4	A	G	1: 174,218,766 (GRCm39)	M44V	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or1e22	A	T	11: 73,377,215 (GRCm39)	V145E	probably damaging	Het
Or2a12	T	C	6: 42,904,371 (GRCm39)	S69P	probably benign	Het
Or52n4b	A	T	7: 108,144,611 (GRCm39)	N291I	probably damaging	Het
Or5as1	T	C	2: 86,980,793 (GRCm39)	I71V	probably benign	Het
Pclo	A	T	5: 14,726,263 (GRCm39)		probably benign	Het
Pik3ca	T	A	3: 32,504,202 (GRCm39)	Y631N	probably damaging	Het
Pramel19	T	A	4: 101,798,348 (GRCm39)	D106E	possibly damaging	Het
Ptk2b	T	C	14: 66,409,966 (GRCm39)	D462G	probably benign	Het
Rnf19a	A	G	15: 36,247,924 (GRCm39)	S427P	probably damaging	Het
Scn3a	T	A	2: 65,299,378 (GRCm39)	Y1376F	possibly damaging	Het
Shoc1	A	G	4: 59,047,543 (GRCm39)	W1359R	probably benign	Het
Stk38l	C	A	6: 146,677,153 (GRCm39)	Y450*	probably null	Het
Stx19	A	G	16: 62,642,337 (GRCm39)	E51G	probably damaging	Het
Ttc41	C	G	10: 86,612,443 (GRCm39)	Q1239E	probably benign	Het
Tuba3a	C	T	6: 125,258,303 (GRCm39)	R229H	probably damaging	Het
Utp18	A	T	11: 93,766,915 (GRCm39)	V264D	probably damaging	Het
V1rd19	T	C	7: 23,702,714 (GRCm39)	V60A	probably damaging	Het
Virma	T	G	4: 11,494,819 (GRCm39)	V40G	probably damaging	Het
Vmn1r160	C	T	7: 22,570,715 (GRCm39)	Q23*	probably null	Het
Vmn2r13	T	C	5: 109,339,805 (GRCm39)	I57V	probably benign	Het
Vmn2r26	T	A	6: 124,038,832 (GRCm39)	F802L	probably damaging	Het
Vmn2r61	A	G	7: 41,909,646 (GRCm39)	D57G	probably benign	Het
Vps13c	A	G	9: 67,785,413 (GRCm39)	N260S	probably damaging	Het
Xirp1	C	A	9: 119,848,668 (GRCm39)	A72S	probably damaging	Het
Zfp212	T	C	6: 47,906,011 (GRCm39)	V190A	probably benign	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably 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
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'- CCTTAGAAAGGCTCAGGACAGG -3'
(R):5'- ACCATCCTTTCTGGGTCCAG -3'

Sequencing Primer
(F):5'- GCTCAGGACAGGACCTAGG -3'
(R):5'- TCTGGGTCCAGCAAATGTC -3'

Posted On

2016-07-22