Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01022:Spag11a'

53741

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spag11a

Ensembl Gene

ENSMUSG00000079842

Gene Name

sperm associated antigen 11A

Synonyms

Ep2e, Bin1b, 9230111C08Rik, Spag11

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01022

Quality Score

Status

Chromosome

Chromosomal Location

19207902-19209594 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19208005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 15 (Q15H)

Ref Sequence

ENSEMBL: ENSMUSP00000055391 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058955] [ENSMUST00000212226] [ENSMUST00000212965]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000058955
AA Change: Q15H

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055391
Gene: ENSMUSG00000079842
AA Change: Q15H

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Defensin_beta	26	61	2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212226

Predicted Effect

probably benign
Transcript: ENSMUST00000212965

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	A	G	10: 61,038,721 (GRCm39)	S927P	probably benign	Het
Arfgef1	G	T	1: 10,244,301 (GRCm39)	F987L	probably damaging	Het
Asph	A	T	4: 9,601,344 (GRCm39)	N191K	possibly damaging	Het
Bmpr1b	A	T	3: 141,577,099 (GRCm39)	C71S	probably damaging	Het
Bod1l	A	T	5: 41,951,652 (GRCm39)	S2920T	probably damaging	Het
Camta2	G	A	11: 70,562,308 (GRCm39)	R1030*	probably null	Het
Chd8	T	C	14: 52,474,450 (GRCm39)	T194A	probably benign	Het
Col9a3	A	T	2: 180,258,227 (GRCm39)	I549F	probably damaging	Het
Fstl4	A	G	11: 53,077,568 (GRCm39)	N775S	probably benign	Het
Gm10800	T	A	2: 98,497,576 (GRCm39)		probably benign	Het
Gm5117	T	A	8: 32,228,515 (GRCm39)		noncoding transcript	Het
Hap1	A	G	11: 100,240,374 (GRCm39)	L112P	probably benign	Het
Hcls1	C	A	16: 36,771,488 (GRCm39)		probably benign	Het
Kmt2c	A	G	5: 25,507,699 (GRCm39)		probably benign	Het
Lct	T	A	1: 128,228,596 (GRCm39)	I966L	probably benign	Het
Myo1h	A	T	5: 114,474,361 (GRCm39)	I451F	possibly damaging	Het
Notch4	G	A	17: 34,784,671 (GRCm39)	C128Y	probably damaging	Het
Oca2	T	A	7: 55,974,504 (GRCm39)	N484K	probably damaging	Het
Or51f1e	T	G	7: 102,747,077 (GRCm39)	L43R	probably damaging	Het
Or7a42	A	T	10: 78,791,188 (GRCm39)	I50F	possibly damaging	Het
Rprd2	T	A	3: 95,671,066 (GRCm39)	R1362*	probably null	Het
Sema3a	C	T	5: 13,523,433 (GRCm39)	T134I	probably damaging	Het
Sfta2	C	T	17: 35,961,336 (GRCm39)	T74I	possibly damaging	Het
Slfn10-ps	C	T	11: 82,926,353 (GRCm39)		noncoding transcript	Het
Tbc1d22a	G	A	15: 86,185,756 (GRCm39)	D282N	probably damaging	Het
Tmbim6	G	A	15: 99,300,003 (GRCm39)	V40M	possibly damaging	Het
Tmem259	A	G	10: 79,819,808 (GRCm39)	V22A	probably damaging	Het
Tnik	T	C	3: 28,679,377 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,424,610 (GRCm39)	D2002G	probably benign	Het

Other mutations in Spag11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3624:Spag11a	UTSW	8	19,209,417 (GRCm39)	missense	probably benign	0.00
R4723:Spag11a	UTSW	8	19,209,398 (GRCm39)	missense	possibly damaging	0.51
R4980:Spag11a	UTSW	8	19,207,962 (GRCm39)	start codon destroyed	probably null

Posted On

2013-06-28