Mutagenetix > Incidental Mutation

Incidental Mutation 'R7631:Spem1'

589654

Institutional Source

Beutler Lab

Gene Symbol

Spem1

Ensembl Gene

ENSMUSG00000041165

Gene Name

spermatid maturation 1

Synonyms

1700095G12Rik

MMRRC Submission

045692-MU

Accession Numbers

Essential gene?

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

Stock #

R7631 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69711697-69712991 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69712409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 85 (Y85C)

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: Y85C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000037500
Gene: ENSMUSG00000041165
AA Change: Y85C

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

87% (46/53)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl3	T	A	6: 34,834,606 (GRCm39)	L930H	possibly damaging	Het
Albfm1	T	C	5: 90,727,531 (GRCm39)	L383S	probably damaging	Het
Alcam	C	T	16: 52,109,276 (GRCm39)		probably null	Het
Ankrd31	A	G	13: 97,015,462 (GRCm39)	H1577R	probably benign	Het
Arfgef1	T	C	1: 10,302,694 (GRCm39)	N9S	probably benign	Het
Cpne9	T	C	6: 113,279,079 (GRCm39)	V491A	possibly damaging	Het
Cyb5d1	A	T	11: 69,285,865 (GRCm39)	L57Q	possibly damaging	Het
Cyp7a1	T	A	4: 6,272,763 (GRCm39)	Q150L	possibly damaging	Het
D430041D05Rik	A	C	2: 103,979,363 (GRCm39)	Y1336*	probably null	Het
Dcaf7	T	C	11: 105,944,579 (GRCm39)	V254A	probably benign	Het
Dchs1	T	C	7: 105,408,445 (GRCm39)	T1796A	probably benign	Het
Defa27	T	A	8: 21,805,657 (GRCm39)	D32E	probably benign	Het
Eno2	T	C	6: 124,744,019 (GRCm39)	E96G	probably benign	Het
Fbxw19	T	A	9: 109,311,069 (GRCm39)	Y380F	probably damaging	Het
Fer1l4	A	T	2: 155,890,195 (GRCm39)	N243K	probably damaging	Het
Fndc7	G	A	3: 108,776,568 (GRCm39)	A491V	probably damaging	Het
Gm14305	A	G	2: 176,410,790 (GRCm39)	Q15R	probably benign	Het
Gpr155	T	C	2: 73,213,291 (GRCm39)		probably benign	Het
Grm5	A	G	7: 87,624,513 (GRCm39)	H360R	probably damaging	Het
Ifi203	G	A	1: 173,754,688 (GRCm39)	T681I	unknown	Het
Klc2	A	G	19: 5,158,647 (GRCm39)	S616P	probably benign	Het
Lifr	A	G	15: 7,214,258 (GRCm39)	Y704C	probably damaging	Het
Lingo4	A	C	3: 94,306,767 (GRCm39)	D15A	possibly damaging	Het
Lrrc74a	A	T	12: 86,795,884 (GRCm39)	N286Y	probably damaging	Het
Mcm8	A	G	2: 132,669,963 (GRCm39)	T374A	not run	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naa25	A	G	5: 121,576,791 (GRCm39)	T847A	possibly damaging	Het
Nrxn2	T	A	19: 6,531,825 (GRCm39)	M763K	possibly damaging	Het
Onecut2	T	A	18: 64,474,046 (GRCm39)	M180K	possibly damaging	Het
Or1p4-ps1	A	C	11: 74,208,357 (GRCm39)	T169P	unknown	Het
Or2r3	T	A	6: 42,448,870 (GRCm39)	M81L	probably benign	Het
Or5m11	A	T	2: 85,782,218 (GRCm39)	E270D	probably benign	Het
Or8c13	A	T	9: 38,092,002 (GRCm39)	V39E	probably damaging	Het
Otx1	G	A	11: 21,949,458 (GRCm39)	Q7*	probably null	Het
Pabpc4	T	G	4: 123,182,763 (GRCm39)	D133E	probably damaging	Het
Pcsk5	A	T	19: 17,542,144 (GRCm39)	C816S	probably damaging	Het
Pgm2	A	G	5: 64,265,522 (GRCm39)	T408A	possibly damaging	Het
Polr2m	G	C	9: 71,390,757 (GRCm39)	Y148*	probably null	Het
Reln	T	C	5: 22,176,933 (GRCm39)	N1911S	probably damaging	Het
Scaf4	T	C	16: 90,026,445 (GRCm39)	D1124G	unknown	Het
Scgb1b19	C	T	7: 32,986,784 (GRCm39)	T18I	probably damaging	Het
Septin12	T	A	16: 4,814,320 (GRCm39)	I50F	probably damaging	Het
Slc25a20	T	A	9: 108,539,491 (GRCm39)	M22K	probably benign	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Smchd1	A	G	17: 71,705,684 (GRCm39)	F972L	probably benign	Het
Strip1	C	T	3: 107,524,247 (GRCm39)	V557I	possibly damaging	Het
Tcirg1	G	T	19: 3,947,160 (GRCm39)	Q634K	probably damaging	Het
Tma7	T	A	9: 108,911,507 (GRCm39)		probably benign	Het
Tmem204	A	G	17: 25,299,414 (GRCm39)	L35P	probably damaging	Het
Trpc6	A	G	9: 8,626,702 (GRCm39)	T351A	probably benign	Het
Tubb2a	A	G	13: 34,259,227 (GRCm39)	S188P	probably damaging	Het
Ubr5	C	A	15: 38,029,751 (GRCm39)	L485F		Het
Vmn1r71	A	T	7: 10,482,378 (GRCm39)	S103R	probably damaging	Het
Vmn2r40	C	T	7: 8,911,119 (GRCm39)	D725N		Het
Zfp473	T	C	7: 44,383,128 (GRCm39)	R402G	possibly damaging	Het
Zfp82	A	T	7: 29,755,851 (GRCm39)	S410R	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
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
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'- CACCTCCTGCATAGATTGAAAGC -3'
(R):5'- TTCCACCTGACCCTAAGCTG -3'

Sequencing Primer
(F):5'- AATCCTTAGAGTCATTCCAGTGGCG -3'
(R):5'- TAAGCTGGCTCCTTAAGACG -3'

Posted On

2019-10-24