Mutagenetix > Incidental Mutation

Incidental Mutation 'R4271:Spem2'

322179

Institutional Source

Beutler Lab

Gene Symbol

Spem2

Ensembl Gene

ENSMUSG00000044084

Gene Name

SPEM family member 2

Synonyms

4933402P03Rik

MMRRC Submission

041076-MU

Accession Numbers

Essential gene?

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

Stock #

R4271 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69707392-69709291 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69708251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 238 (Y238C)

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 damaging
Transcript: ENSMUST00000056941
AA Change: Y238C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000051204
Gene: ENSMUSG00000044084
AA Change: Y238C

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	A	G	2: 103,856,549 (GRCm39)		probably benign	Het
Acp6	T	C	3: 97,073,934 (GRCm39)		probably null	Het
Actr6	T	A	10: 89,553,101 (GRCm39)	R252S	probably benign	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Ash1l	T	A	3: 88,889,347 (GRCm39)	C409S	probably benign	Het
Aspg	T	C	12: 112,087,629 (GRCm39)	S327P	probably damaging	Het
B430203G13Rik	CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	12: 17,974,358 (GRCm39)		noncoding transcript	Het
C1galt1	T	C	6: 7,866,607 (GRCm39)	F151S	probably damaging	Het
C1qtnf6	G	A	15: 78,409,466 (GRCm39)	T127I	probably benign	Het
Ccdc88c	G	T	12: 100,913,478 (GRCm39)	Q516K	probably damaging	Het
Cdh11	T	A	8: 103,391,258 (GRCm39)	D326V	possibly damaging	Het
Cecr2	C	T	6: 120,739,436 (GRCm39)	H1360Y	probably damaging	Het
Cfap70	T	C	14: 20,470,793 (GRCm39)	E484G	probably benign	Het
Chml	G	A	1: 175,515,360 (GRCm39)	T187M	probably benign	Het
Chpt1	C	T	10: 88,317,214 (GRCm39)		probably benign	Het
Cmtr1	T	C	17: 29,916,956 (GRCm39)	S618P	probably benign	Het
Cspg4b	G	T	13: 113,478,904 (GRCm39)	V1483L	possibly damaging	Het
Cyfip1	A	T	7: 55,528,849 (GRCm39)	M244L	probably benign	Het
Dock1	T	C	7: 134,335,783 (GRCm39)	I59T	probably damaging	Het
Duox1	T	C	2: 122,154,856 (GRCm39)	F414L	probably damaging	Het
Gm1110	A	T	9: 26,806,944 (GRCm39)		probably null	Het
Gsap	T	C	5: 21,431,348 (GRCm39)		probably null	Het
H2-T3	T	C	17: 36,500,510 (GRCm39)	Y111C	probably damaging	Het
Hectd4	AGCGGCGGCGGCGGCGGCGGCGG	AGCGGCGGCGGCGGCGGCGG	5: 121,358,567 (GRCm39)		probably benign	Het
Kif12	T	C	4: 63,088,983 (GRCm39)	Q146R	probably benign	Het
Kif26a	C	T	12: 112,139,848 (GRCm39)	S460F	probably damaging	Het
Klhl15	AG	A	X: 93,296,718 (GRCm39)		probably null	Het
Lims1	T	C	10: 58,246,026 (GRCm39)		probably null	Het
Nbr1	T	C	11: 101,458,048 (GRCm39)	Y276H	possibly damaging	Het
Nfe2l3	A	G	6: 51,433,614 (GRCm39)	D242G	probably damaging	Het
Oacyl	T	A	18: 65,871,038 (GRCm39)	L340Q	probably damaging	Het
Or4n4b	A	T	14: 50,535,908 (GRCm39)	I286N	probably damaging	Het
Or5p80	T	A	7: 108,229,560 (GRCm39)	Y120*	probably null	Het
Osbpl5	G	T	7: 143,249,339 (GRCm39)	Y543*	probably null	Het
Polr1a	G	A	6: 71,930,006 (GRCm39)	E898K	probably benign	Het
Pramel51	A	T	12: 88,145,053 (GRCm39)	I91K	probably damaging	Het
Rad54l2	G	A	9: 106,570,825 (GRCm39)	A1165V	probably benign	Het
Rimbp2	T	G	5: 128,896,841 (GRCm39)	N23T	probably benign	Het
Scp2	T	C	4: 107,942,408 (GRCm39)	D306G	probably damaging	Het
Slco4a1	A	G	2: 180,116,003 (GRCm39)	D713G	possibly damaging	Het
Smarca2	T	A	19: 26,698,349 (GRCm39)		probably null	Het
Srpk2	T	A	5: 23,753,513 (GRCm39)	H80L	possibly damaging	Het
Tmem161a	T	C	8: 70,634,162 (GRCm39)	L365P	probably damaging	Het
Tsnax	T	C	8: 125,759,468 (GRCm39)	L243P	probably damaging	Het
Ttn	A	G	2: 76,731,979 (GRCm39)		probably benign	Het
V1rd19	A	G	7: 23,702,839 (GRCm39)	T102A	probably benign	Het
Vmn2r94	T	C	17: 18,463,940 (GRCm39)	I783M	probably damaging	Het
Zeb1	C	A	18: 5,758,985 (GRCm39)	Q148K	probably damaging	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
R1476:Spem2	UTSW	11	69,708,896 (GRCm39)	missense	probably benign	0.05
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
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'- ATCCCTGGCATCATAAGGTATG -3'
(R):5'- TGACATGGAAGACCGGGATTC -3'

Sequencing Primer
(F):5'- ATCATAAGGTATGTGGCCCCCTG -3'
(R):5'- ATGGAAGACCGGGATTCCCTTC -3'

Posted On

2015-06-20