Mutagenetix > Incidental Mutations

Incidental Mutation 'R6137:Spem2'

488414

Institutional Source

Beutler Lab

Gene Symbol

Spem2

Ensembl Gene

ENSMUSG00000044084

Gene Name

SPEM family member 2

Synonyms

4933402P03Rik

MMRRC Submission

044284-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R6137 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69816566-69818465 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 69816696 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 481 (S481*)

Ref Sequence

ENSEMBL: ENSMUSP00000051204 (fasta)

Gene Model

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

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 null
Transcript: ENSMUST00000056941
AA Change: S481*

SMART Domains

Protein: ENSMUSP00000051204
Gene: ENSMUSG00000044084
AA Change: S481*

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: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700092M07Rik	A	T	19: 8,740,784	D6V	probably damaging	Het
2310057M21Rik	G	T	7: 131,357,613	H165Q	probably damaging	Het
Akap13	T	A	7: 75,677,416	F721Y	probably damaging	Het
Akap6	A	T	12: 53,140,354	D1517V	probably damaging	Het
Amigo3	T	A	9: 108,053,728	S117T	probably damaging	Het
Atf7ip2	T	A	16: 10,201,411	N34K	probably damaging	Het
Cacnb1	A	C	11: 98,005,782	V351G	probably damaging	Het
Casp9	T	A	4: 141,805,349		probably null	Het
Ccdc51	C	T	9: 109,089,415	T24I	probably benign	Het
Cdh23	T	A	10: 60,434,512	Y618F	probably damaging	Het
Chd1	T	A	17: 15,758,688	W1271R	probably damaging	Het
Dars	T	C	1: 128,368,439	T386A	probably benign	Het
Dchs1	T	A	7: 105,765,106	D834V	probably damaging	Het
Dgkd	T	A	1: 87,936,381	V933E	possibly damaging	Het
Dnah17	A	G	11: 118,025,654	F4203S	probably damaging	Het
Fancm	T	C	12: 65,130,382	L2000P	probably damaging	Het
Fbxo11	A	T	17: 88,008,669	H444Q	probably benign	Het
Fbxw14	T	A	9: 109,276,222	T292S	probably damaging	Het
Fer1l6	T	C	15: 58,559,206	S237P	probably damaging	Het
Frem3	T	C	8: 80,615,047	I1323T	probably benign	Het
Grin2a	A	G	16: 9,653,449	F652L	probably benign	Het
Grin2b	T	A	6: 135,923,458	M142L	possibly damaging	Het
Helz	A	G	11: 107,619,060	Q503R	possibly damaging	Het
Ighv5-17	A	G	12: 113,859,295	Y69H	probably benign	Het
Il17ra	A	G	6: 120,475,582	N242S	probably benign	Het
Immp1l	G	C	2: 105,964,208	G117A	probably damaging	Het
Itm2c	T	C	1: 85,894,692	V10A	probably benign	Het
Kif1b	T	C	4: 149,238,426	K679E	possibly damaging	Het
Kng1	T	C	16: 23,074,645	V256A	possibly damaging	Het
Lamc2	T	G	1: 153,166,153	R78S	possibly damaging	Het
Loxl4	A	G	19: 42,598,793	F621S	probably damaging	Het
Lpl	T	A	8: 68,892,747	D134E	probably damaging	Het
Lypd3	T	C	7: 24,640,494	Y329H	probably benign	Het
Mettl13	T	C	1: 162,535,886	D225G	probably benign	Het
Myo7b	A	G	18: 31,999,974	F441L	probably damaging	Het
Nnt	T	A	13: 119,336,328	M699L	possibly damaging	Het
Nr1h3	A	T	2: 91,191,851	M144K	probably damaging	Het
Olfr1040	A	G	2: 86,145,969	V255A	probably benign	Het
Olfr1347	T	C	7: 6,488,845	T3A	probably benign	Het
Olfr325	A	T	11: 58,581,068	M75L	probably benign	Het
Pappa2	A	T	1: 158,871,543	Y667N	probably damaging	Het
Prps1l3	A	G	12: 57,238,888	I155V	probably benign	Het
Ptgs2	T	A	1: 150,100,993	N24K	probably benign	Het
Ralgds	A	T	2: 28,547,588	M514L	probably damaging	Het
Rbm47	G	C	5: 66,026,283	R326G	probably damaging	Het
Sacm1l	T	A	9: 123,569,005	V254D	probably damaging	Het
Selenot	A	T	3: 58,585,284	Q64L	probably damaging	Het
Sgsm2	G	A	11: 74,850,851	R1037W	probably damaging	Het
Slc22a12	A	G	19: 6,542,724	V10A	probably benign	Het
Styk1	C	T	6: 131,311,016	G128D	probably damaging	Het
Tmc6	A	T	11: 117,776,328	L148Q	probably damaging	Het
Tmem138	A	C	19: 10,574,835		probably null	Het
Tnpo3	A	G	6: 29,555,268	V772A	probably benign	Het
Topaz1	T	C	9: 122,797,756	F1483S	possibly damaging	Het
Tuba4a	C	A	1: 75,216,055	C305F	probably damaging	Het
Ubap1	T	G	4: 41,379,262	F159V	possibly damaging	Het
Vmn2r9	A	G	5: 108,849,016	I129T	probably benign	Het
Wwc2	A	T	8: 47,856,263	M828K	unknown	Het
Zfp236	A	T	18: 82,671,794	S187T	possibly damaging	Het

Other mutations in Spem2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01407:Spem2	APN	11	69817239	missense	possibly damaging	0.53
IGL02208:Spem2	APN	11	69817263	splice site	probably null
IGL02315:Spem2	APN	11	69817365	missense	probably damaging	0.98
IGL02325:Spem2	APN	11	69816963	missense	probably benign	0.00
IGL02877:Spem2	APN	11	69817695	missense	probably benign	0.16
R1476:Spem2	UTSW	11	69818070	missense	probably benign	0.05
R1928:Spem2	UTSW	11	69817464	missense	probably benign	0.03
R3741:Spem2	UTSW	11	69816730	missense	possibly damaging	0.53
R3811:Spem2	UTSW	11	69817164	missense	possibly damaging	0.72
R4271:Spem2	UTSW	11	69817425	missense	probably damaging	0.98
R4717:Spem2	UTSW	11	69817783	missense	probably benign	0.37
R4997:Spem2	UTSW	11	69817732	missense	probably benign	0.06
R5114:Spem2	UTSW	11	69817147	missense	probably benign	0.33
R6302:Spem2	UTSW	11	69818265	missense	possibly damaging	0.71
R6454:Spem2	UTSW	11	69817428	missense	probably damaging	0.97
R6923:Spem2	UTSW	11	69817777	missense	probably damaging	0.99
R7000:Spem2	UTSW	11	69817756	missense	probably benign
R8516:Spem2	UTSW	11	69816895	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- AATCCCAGGTCAGTGAAAGG -3'
(R):5'- GGTGAGGCTTCATACCAAAGG -3'

Sequencing Primer
(F):5'- CCCAGGTCAGTGAAAGGAGAGATTC -3'
(R):5'- AGCTCGGGCCTGATGATC -3'

Posted On

2017-10-10