Mutagenetix > Incidental Mutation

Incidental Mutation 'R7989:Speer4a2'

651631

Institutional Source

Beutler Lab

Gene Symbol

Speer4a2

Ensembl Gene

ENSMUSG00000073116

Gene Name

spermatogenesis associated glutamate (E)-rich protein 4A2

Synonyms

Gm10471

MMRRC Submission

046030-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R7989 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26287572-26294289 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26290643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 176 (L176Q)

Ref Sequence

ENSEMBL: ENSMUSP00000092553 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094946]

AlphaFold

E9Q1C7

Predicted Effect

probably damaging
Transcript: ENSMUST00000094946
AA Change: L176Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092553
Gene: ENSMUSG00000073116
AA Change: L176Q

Domain	Start	End	E-Value	Type
Pfam:Takusan	6	90	1.9e-27	PFAM
low complexity region	110	124	N/A	INTRINSIC
low complexity region	191	215	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,875,278 (GRCm39)	E631D	probably benign	Het
Abcc12	T	C	8: 87,232,108 (GRCm39)	T1317A	probably benign	Het
Abcc4	T	C	14: 118,836,772 (GRCm39)	Q663R	probably benign	Het
Arhgef28	G	A	13: 98,036,243 (GRCm39)	T1672I	probably benign	Het
Dnah3	A	T	7: 119,677,012 (GRCm39)	D496E	probably benign	Het
Dse	A	T	10: 34,029,454 (GRCm39)	Y545*	probably null	Het
Eps8	C	T	6: 137,505,569 (GRCm39)	R53Q	possibly damaging	Het
Fam124b	A	T	1: 80,191,311 (GRCm39)	L24Q	probably damaging	Het
Fam180a	A	T	6: 35,292,273 (GRCm39)	N44K	probably damaging	Het
Gabrg3	G	T	7: 56,374,389 (GRCm39)	N392K	possibly damaging	Het
Gprin2	G	A	14: 33,916,661 (GRCm39)	R370*	probably null	Het
Grhpr	C	T	4: 44,989,008 (GRCm39)	P275S	probably damaging	Het
Hsf5	A	G	11: 87,526,450 (GRCm39)	Q374R	probably benign	Het
Igtp	A	C	11: 58,097,205 (GRCm39)	K125N	probably damaging	Het
Il17a	T	C	1: 20,802,438 (GRCm39)	V49A	possibly damaging	Het
Klhl12	T	C	1: 134,417,143 (GRCm39)	S552P	probably benign	Het
Or4c15	T	C	2: 88,759,858 (GRCm39)	D267G	probably damaging	Het
Or5d45	T	A	2: 88,153,164 (GRCm39)	N295I	probably damaging	Het
Pkd2l1	A	T	19: 44,142,507 (GRCm39)	C512S	probably benign	Het
Plekha7	G	A	7: 115,757,558 (GRCm39)	P464L	probably benign	Het
Plk5	A	G	10: 80,199,899 (GRCm39)	R469G	probably benign	Het
Pphln1	C	A	15: 93,386,960 (GRCm39)	H353N	possibly damaging	Het
Prkaa1	A	G	15: 5,206,166 (GRCm39)	N341D	probably damaging	Het
Skp2	C	T	15: 9,127,979 (GRCm39)	R129H	probably benign	Het
Slc5a6	A	G	5: 31,199,480 (GRCm39)		probably null	Het
Spata31d1b	C	T	13: 59,866,182 (GRCm39)	P1110L	possibly damaging	Het
Srgap2	A	G	1: 131,226,170 (GRCm39)	S368P		Het
Tiam2	G	T	17: 3,568,524 (GRCm39)	E1557*	probably null	Het
Tmem200a	C	A	10: 25,869,955 (GRCm39)	V105F	probably benign	Het
Trbv3	A	T	6: 41,025,576 (GRCm39)	K55N	probably benign	Het
Trio	A	G	15: 27,773,021 (GRCm39)	L1881P	probably damaging	Het
Unc13a	G	A	8: 72,104,917 (GRCm39)	R782W	probably damaging	Het
Usp32	A	T	11: 84,925,126 (GRCm39)	M117K		Het
Zfp655	T	A	5: 145,181,380 (GRCm39)	C413S	probably damaging	Het

Other mutations in Speer4a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Speer4a2	APN	5	26,291,491 (GRCm39)	missense	possibly damaging	0.95
IGL01629:Speer4a2	APN	5	26,290,700 (GRCm39)	missense	probably damaging	0.99
IGL02804:Speer4a2	APN	5	26,291,429 (GRCm39)	nonsense	probably null
PIT4131001:Speer4a2	UTSW	5	26,294,093 (GRCm39)	missense	probably damaging	1.00
PIT4131001:Speer4a2	UTSW	5	26,291,485 (GRCm39)	missense	probably benign
PIT4142001:Speer4a2	UTSW	5	26,294,093 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Speer4a2	UTSW	5	26,291,485 (GRCm39)	missense	probably benign
R1033:Speer4a2	UTSW	5	26,294,125 (GRCm39)	missense	probably benign
R4922:Speer4a2	UTSW	5	26,289,791 (GRCm39)	missense	probably damaging	0.99
R5876:Speer4a2	UTSW	5	26,289,716 (GRCm39)	missense	probably damaging	0.99
R5998:Speer4a2	UTSW	5	26,289,704 (GRCm39)	missense	probably damaging	1.00
R6022:Speer4a2	UTSW	5	26,289,677 (GRCm39)	missense	probably benign
R6189:Speer4a2	UTSW	5	26,290,691 (GRCm39)	missense	probably benign	0.02
R6928:Speer4a2	UTSW	5	26,290,586 (GRCm39)	critical splice donor site	probably null
R6978:Speer4a2	UTSW	5	26,291,454 (GRCm39)	missense	probably damaging	0.99
R7143:Speer4a2	UTSW	5	26,290,674 (GRCm39)	missense	probably benign	0.07
R7271:Speer4a2	UTSW	5	26,292,993 (GRCm39)	missense	probably benign	0.00
R7590:Speer4a2	UTSW	5	26,290,764 (GRCm39)	missense	possibly damaging	0.95
R8161:Speer4a2	UTSW	5	26,289,690 (GRCm39)	missense	possibly damaging	0.94
R8962:Speer4a2	UTSW	5	26,290,745 (GRCm39)	missense	probably benign	0.02
R9585:Speer4a2	UTSW	5	26,291,542 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- CAGTTACATTCCATGAGGAGGG -3'
(R):5'- CCAGGGTACAGGTCAGGTTAATG -3'

Sequencing Primer
(F):5'- CATTCCATGAGGAGGGTGGCTG -3'
(R):5'- AGGTTAATGGGACCTGTAAGTAG -3'

Posted On

2020-09-15