Mutagenetix > Incidental Mutation

Incidental Mutation 'R1476:Spem2'

164085

Institutional Source

Beutler Lab

Gene Symbol

Spem2

Ensembl Gene

ENSMUSG00000044084

Gene Name

SPEM family member 2

Synonyms

4933402P03Rik

MMRRC Submission

039529-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R1476 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69707392-69709291 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69708896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 58 (M58K)

Ref Sequence

ENSEMBL: ENSMUSP00000051204 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045771] [ENSMUST00000056941] [ENSMUST00000210714]

AlphaFold

Q8C5U4

Predicted Effect

probably benign
Transcript: ENSMUST00000045771

SMART Domains

Protein: ENSMUSP00000037500
Gene: ENSMUSG00000041165

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

Predicted Effect

probably benign
Transcript: ENSMUST00000056941
AA Change: M58K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000051204
Gene: ENSMUSG00000044084
AA Change: M58K

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: ENSMUST00000210714

Meta Mutation Damage Score

0.4517

Coding Region Coverage

1x: 99.3%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

95% (80/84)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,099,528 (GRCm39)		probably benign	Het
A730015C16Rik	G	A	4: 108,705,205 (GRCm39)	V40M	probably damaging	Het
Abcg2	A	G	6: 58,655,322 (GRCm39)	D419G	probably benign	Het
Adamts17	A	C	7: 66,725,091 (GRCm39)	E777A	probably damaging	Het
Ak1	A	G	2: 32,523,478 (GRCm39)	K166R	probably benign	Het
Ankrd12	T	C	17: 66,293,300 (GRCm39)	K711R	probably damaging	Het
Ate1	A	T	7: 130,020,301 (GRCm39)		probably null	Het
Atp5f1a	A	G	18: 77,869,625 (GRCm39)	H519R	probably benign	Het
Best1	G	T	19: 9,967,853 (GRCm39)	Y284*	probably null	Het
C2cd6	A	G	1: 59,115,887 (GRCm39)		probably benign	Het
Casz1	G	T	4: 149,030,628 (GRCm39)	V1216L	probably benign	Het
Cdc42bpg	A	G	19: 6,363,812 (GRCm39)	D493G	probably damaging	Het
Ces2f	A	G	8: 105,679,134 (GRCm39)	D317G	possibly damaging	Het
Chst15	A	T	7: 131,872,002 (GRCm39)	M93K	possibly damaging	Het
Cntnap5a	T	C	1: 115,828,750 (GRCm39)	L58P	probably damaging	Het
Crip3	T	C	17: 46,741,702 (GRCm39)		probably benign	Het
Csmd2	G	A	4: 128,380,794 (GRCm39)	E2117K	probably benign	Het
Cstf3	A	G	2: 104,478,564 (GRCm39)	D212G	possibly damaging	Het
Cttnbp2	T	C	6: 18,434,220 (GRCm39)	K546R	probably damaging	Het
Cubn	A	G	2: 13,480,931 (GRCm39)	I308T	probably benign	Het
Cxcl9	T	A	5: 92,472,972 (GRCm39)	D75V	probably damaging	Het
Dcdc5	C	T	2: 106,188,977 (GRCm39)		noncoding transcript	Het
Defa30	C	A	8: 21,624,752 (GRCm39)	T25K	possibly damaging	Het
Dock7	A	T	4: 98,967,672 (GRCm39)	H239Q	possibly damaging	Het
Dpp4	A	G	2: 62,178,245 (GRCm39)	V629A	possibly damaging	Het
Fam83a	T	C	15: 57,873,341 (GRCm39)	M390T	probably benign	Het
Fem1c	A	G	18: 46,657,552 (GRCm39)	L54P	probably damaging	Het
Fntb	T	A	12: 76,957,007 (GRCm39)	M282K	probably benign	Het
Galnt2l	A	G	8: 122,996,323 (GRCm39)		probably benign	Het
Gm11099	G	A	2: 58,749,482 (GRCm39)		probably benign	Het
Gm1527	T	C	3: 28,980,705 (GRCm39)	S602P	probably benign	Het
Gm5478	T	A	15: 101,553,080 (GRCm39)	I331F	probably damaging	Het
Gm7853	C	A	14: 35,811,540 (GRCm39)		noncoding transcript	Het
Gsta2	A	T	9: 78,249,147 (GRCm39)	C18S	probably benign	Het
H1f8	T	C	6: 115,924,701 (GRCm39)	V69A	possibly damaging	Het
Hecw1	T	C	13: 14,480,671 (GRCm39)	E465G	probably damaging	Het
Herc1	A	G	9: 66,415,548 (GRCm39)	D4841G	probably damaging	Het
Hus1b	A	G	13: 31,130,984 (GRCm39)	V225A	probably benign	Het
Keg1	A	T	19: 12,693,387 (GRCm39)	M137L	probably benign	Het
Kmt2a	C	T	9: 44,735,932 (GRCm39)		probably benign	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mga	T	A	2: 119,772,156 (GRCm39)	V1672E	probably damaging	Het
Mios	T	C	6: 8,234,237 (GRCm39)	S803P	probably benign	Het
Mrtfa	T	C	15: 80,902,409 (GRCm39)		probably benign	Het
Msh4	A	T	3: 153,569,021 (GRCm39)	Y851N	probably damaging	Het
Mybl1	A	C	1: 9,742,886 (GRCm39)		probably null	Het
Myo5c	A	G	9: 75,183,221 (GRCm39)	Y865C	probably damaging	Het
Naip1	T	C	13: 100,563,378 (GRCm39)	S596G	probably benign	Het
Nek5	G	T	8: 22,586,747 (GRCm39)	Q355K	possibly damaging	Het
Nphp3	G	T	9: 103,903,126 (GRCm39)	R701L	possibly damaging	Het
Or52n2	A	T	7: 104,542,444 (GRCm39)	Y130*	probably null	Het
Or5j3	T	C	2: 86,128,823 (GRCm39)	I221T	probably damaging	Het
Or5m10	T	A	2: 85,717,592 (GRCm39)	Y149*	probably null	Het
Or5t9	T	C	2: 86,659,542 (GRCm39)	S149P	probably benign	Het
Or9g4	T	A	2: 85,505,262 (GRCm39)	T78S	possibly damaging	Het
Palm	A	G	10: 79,651,021 (GRCm39)	N149D	possibly damaging	Het
Pot1b	T	C	17: 55,960,451 (GRCm39)	I626M	possibly damaging	Het
Ptprt	T	A	2: 161,769,404 (GRCm39)	D487V	probably damaging	Het
Qpct	A	G	17: 79,378,201 (GRCm39)	I124V	probably benign	Het
Rbm12b1	T	A	4: 12,145,817 (GRCm39)	D596E	possibly damaging	Het
Rnf157	A	G	11: 116,245,585 (GRCm39)	C277R	probably damaging	Het
Rnf169	A	G	7: 99,574,535 (GRCm39)	S687P	possibly damaging	Het
Sfxn1	T	A	13: 54,246,469 (GRCm39)		probably null	Het
Slc6a21	T	C	7: 44,922,052 (GRCm39)	V649A	probably benign	Het
Slit3	A	T	11: 35,577,126 (GRCm39)	T1120S	probably damaging	Het
Sprr2k	T	A	3: 92,340,703 (GRCm39)		probably benign	Het
Sspo	T	C	6: 48,440,334 (GRCm39)		probably null	Het
Sv2b	A	T	7: 74,769,791 (GRCm39)	F584I	possibly damaging	Het
Tkfc	A	T	19: 10,572,690 (GRCm39)	M317K	probably null	Het
Tnni3k	C	T	3: 154,735,942 (GRCm39)	G134S	probably benign	Het
Ttn	C	T	2: 76,570,124 (GRCm39)	R26923H	probably damaging	Het
Tuba3b	T	C	6: 145,564,179 (GRCm39)	V75A	possibly damaging	Het
Unc79	T	C	12: 103,149,784 (GRCm39)	L2626P	probably damaging	Het
Usp24	A	T	4: 106,219,130 (GRCm39)	I491F	probably damaging	Het
V1ra8	A	T	6: 90,180,132 (GRCm39)	I112F	probably damaging	Het
Vmn1r29	T	G	6: 58,284,663 (GRCm39)	F128V	probably benign	Het
Wdr87-ps	A	G	7: 29,234,315 (GRCm39)		noncoding transcript	Het
Zfp157	T	A	5: 138,453,357 (GRCm39)		probably null	Het

Other mutations in Spem2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01407:Spem2	APN	11	69,708,065 (GRCm39)	missense	possibly damaging	0.53
IGL02208:Spem2	APN	11	69,708,089 (GRCm39)	splice site	probably null
IGL02315:Spem2	APN	11	69,708,191 (GRCm39)	missense	probably damaging	0.98
IGL02325:Spem2	APN	11	69,707,789 (GRCm39)	missense	probably benign	0.00
IGL02877:Spem2	APN	11	69,708,521 (GRCm39)	missense	probably benign	0.16
R1928:Spem2	UTSW	11	69,708,290 (GRCm39)	missense	probably benign	0.03
R3741:Spem2	UTSW	11	69,707,556 (GRCm39)	missense	possibly damaging	0.53
R3811:Spem2	UTSW	11	69,707,990 (GRCm39)	missense	possibly damaging	0.72
R4271:Spem2	UTSW	11	69,708,251 (GRCm39)	missense	probably damaging	0.98
R4717:Spem2	UTSW	11	69,708,609 (GRCm39)	missense	probably benign	0.37
R4997:Spem2	UTSW	11	69,708,558 (GRCm39)	missense	probably benign	0.06
R5114:Spem2	UTSW	11	69,707,973 (GRCm39)	missense	probably benign	0.33
R6137:Spem2	UTSW	11	69,707,522 (GRCm39)	nonsense	probably null
R6302:Spem2	UTSW	11	69,709,091 (GRCm39)	missense	possibly damaging	0.71
R6454:Spem2	UTSW	11	69,708,254 (GRCm39)	missense	probably damaging	0.97
R6923:Spem2	UTSW	11	69,708,603 (GRCm39)	missense	probably damaging	0.99
R7000:Spem2	UTSW	11	69,708,582 (GRCm39)	missense	probably benign
R8516:Spem2	UTSW	11	69,707,721 (GRCm39)	missense	possibly damaging	0.53
R9132:Spem2	UTSW	11	69,707,414 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCAGGATACAGTGGATGTGGACG -3'
(R):5'- GAAAGCCCTCAGGATGCTGAGAAC -3'

Sequencing Primer
(F):5'- GGTAACCTGGACTACTTCTGCT -3'
(R):5'- CTGGTCAACATCAGCATCAATGTG -3'

Posted On

2014-03-28