Mutagenetix > Incidental Mutation

Incidental Mutation 'R4927:Speer4b'

380897

Institutional Source

Beutler Lab

Gene Symbol

Speer4b

Ensembl Gene

ENSMUSG00000048703

Gene Name

spermatogenesis associated glutamate (E)-rich protein 4B

Synonyms

1700081O22Rik, SPEER-4B

MMRRC Submission

042528-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R4927 (G1)

Quality Score

131

Status

Validated

Chromosome

Chromosomal Location

27700807-27706390 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27706263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 35 (N35D)

Ref Sequence

ENSEMBL: ENSMUSP00000062903 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053257] [ENSMUST00000071500] [ENSMUST00000101471] [ENSMUST00000120555] [ENSMUST00000122171]

AlphaFold

Q9D9F7

Predicted Effect

probably damaging
Transcript: ENSMUST00000053257
AA Change: N35D

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000062903
Gene: ENSMUSG00000048703
AA Change: N35D

Domain	Start	End	E-Value	Type
Pfam:Takusan	50	134	9.6e-27	PFAM
low complexity region	154	168	N/A	INTRINSIC
low complexity region	235	259	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000071500

SMART Domains

Protein: ENSMUSP00000071435
Gene: ENSMUSG00000061576

Domain	Start	End	E-Value	Type
transmembrane domain	35	57	N/A	INTRINSIC
Pfam:DPPIV_N	134	500	7.2e-114	PFAM
Pfam:PD40	365	402	1.1e-5	PFAM
Pfam:Peptidase_S9	579	789	2.9e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101471

SMART Domains

Protein: ENSMUSP00000099012
Gene: ENSMUSG00000061576

Domain	Start	End	E-Value	Type
transmembrane domain	34	56	N/A	INTRINSIC
Pfam:DPPIV_N	133	499	2.6e-114	PFAM
Pfam:PD40	364	401	9.3e-6	PFAM
Pfam:Peptidase_S9	578	788	1.9e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120555

SMART Domains

Protein: ENSMUSP00000113849
Gene: ENSMUSG00000061576

Domain	Start	End	E-Value	Type
transmembrane domain	32	54	N/A	INTRINSIC
Pfam:DPPIV_N	131	497	2.6e-114	PFAM
Pfam:PD40	362	399	9.2e-6	PFAM
Pfam:Peptidase_S9	576	786	1.9e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122171

SMART Domains

Protein: ENSMUSP00000113441
Gene: ENSMUSG00000061576

Domain	Start	End	E-Value	Type
low complexity region	50	62	N/A	INTRINSIC
transmembrane domain	90	112	N/A	INTRINSIC
Pfam:DPPIV_N	189	555	6.4e-113	PFAM
Pfam:PD40	425	457	1.1e-4	PFAM
Pfam:Peptidase_S9	634	844	4.3e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124535

Predicted Effect

unknown
Transcript: ENSMUST00000155721
AA Change: N33D

SMART Domains

Protein: ENSMUSP00000122872
Gene: ENSMUSG00000048703
AA Change: N33D

Domain	Start	End	E-Value	Type
Pfam:Takusan	49	133	6.2e-27	PFAM
low complexity region	153	167	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

97% (76/78)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Adamts2	T	A	11: 50,694,639 (GRCm39)	L1142*	probably null	Het
Arl13b	C	A	16: 62,622,150 (GRCm39)	G381V	probably damaging	Het
Ash1l	G	T	3: 88,892,641 (GRCm39)	V1507F	probably damaging	Het
Babam2	T	A	5: 31,859,408 (GRCm39)	F38I	probably benign	Het
Bend4	T	C	5: 67,557,619 (GRCm39)	Y399C	probably damaging	Het
Btn1a1	A	T	13: 23,644,794 (GRCm39)		probably null	Het
Cacna1g	A	T	11: 94,319,973 (GRCm39)	L1401Q	probably damaging	Het
Ccdc192	C	T	18: 57,863,888 (GRCm39)	Q213*	probably null	Het
Cep192	T	C	18: 67,968,195 (GRCm39)	V893A	probably benign	Het
Cnot10	A	T	9: 114,447,012 (GRCm39)	Y355N	probably damaging	Het
Col6a5	G	C	9: 105,811,163 (GRCm39)	S785R	unknown	Het
Cpa3	A	G	3: 20,276,303 (GRCm39)	L310P	probably damaging	Het
Cux2	A	G	5: 122,015,152 (GRCm39)	I247T	probably benign	Het
Dab1	A	G	4: 104,561,449 (GRCm39)	T245A	probably benign	Het
Dmrta1	A	T	4: 89,579,985 (GRCm39)	D315V	probably damaging	Het
Dnah12	T	A	14: 26,583,762 (GRCm39)	L599*	probably null	Het
Dync1h1	T	C	12: 110,629,289 (GRCm39)	I4231T	possibly damaging	Het
Fat1	T	C	8: 45,476,000 (GRCm39)	V1659A	probably damaging	Het
Flot2	G	A	11: 77,949,888 (GRCm39)	V406M	probably damaging	Het
Galnt2	A	G	8: 125,032,362 (GRCm39)	D75G	probably damaging	Het
Gcnt3	A	T	9: 69,942,464 (GRCm39)	C35S	probably damaging	Het
Gp2	A	G	7: 119,052,118 (GRCm39)	F199L	probably benign	Het
Gramd2b	C	T	18: 56,618,523 (GRCm39)	P244S	probably damaging	Het
Hhipl1	T	C	12: 108,278,203 (GRCm39)	L177P	probably damaging	Het
Homez	T	C	14: 55,095,264 (GRCm39)	E148G	possibly damaging	Het
Kcnab3	G	A	11: 69,217,572 (GRCm39)	C22Y	possibly damaging	Het
Kcnh8	C	A	17: 53,185,009 (GRCm39)	S430R	probably damaging	Het
Kcnn2	T	C	18: 45,692,798 (GRCm39)	C125R	probably benign	Het
Klhl7	G	A	5: 24,346,185 (GRCm39)	R277Q	possibly damaging	Het
Krt78	A	G	15: 101,855,334 (GRCm39)	S826P	probably benign	Het
Krtap14	T	C	16: 88,622,919 (GRCm39)	Y20C	possibly damaging	Het
Lrcol1	A	G	5: 110,502,163 (GRCm39)		probably null	Het
Lrrc10b	G	A	19: 10,434,226 (GRCm39)	P152S	probably damaging	Het
Lrrn3	C	G	12: 41,503,124 (GRCm39)	D398H	probably damaging	Het
Map3k19	T	C	1: 127,749,932 (GRCm39)	I1140V	probably benign	Het
Mos	G	A	4: 3,871,093 (GRCm39)	T241M	probably damaging	Het
Nol8	A	G	13: 49,807,901 (GRCm39)	E39G	possibly damaging	Het
Olfm1	T	G	2: 28,104,798 (GRCm39)	S212A	probably benign	Het
Or2ak6	T	A	11: 58,592,633 (GRCm39)	F35L	probably damaging	Het
Pip4p2	G	T	4: 14,912,458 (GRCm39)	R189L	probably damaging	Het
Plec	G	T	15: 76,061,162 (GRCm39)	T2947K	probably damaging	Het
Pramel27	A	T	4: 143,578,187 (GRCm39)	Q149L	probably damaging	Het
Rasgrp3	A	G	17: 75,823,350 (GRCm39)	M474V	probably benign	Het
Ryr1	T	C	7: 28,719,408 (GRCm39)	Y4333C	unknown	Het
Scrn2	G	C	11: 96,924,326 (GRCm39)		probably null	Het
Slc22a12	C	A	19: 6,587,791 (GRCm39)	V388L	probably benign	Het
Slc4a11	A	G	2: 130,526,866 (GRCm39)	V754A	probably damaging	Het
Slco2b1	A	G	7: 99,335,195 (GRCm39)	F195S	probably damaging	Het
Slfn9	A	C	11: 82,872,216 (GRCm39)	M840R	possibly damaging	Het
Taf1d	T	A	9: 15,221,250 (GRCm39)	D185E	probably damaging	Het
Taok2	A	G	7: 126,475,213 (GRCm39)	L245P	probably damaging	Het
Tent4a	A	T	13: 69,651,019 (GRCm39)		probably null	Het
Ticam2	T	C	18: 46,693,846 (GRCm39)	I80M	probably damaging	Het
Tmem268	G	A	4: 63,502,164 (GRCm39)	V331I	probably benign	Het
Tsga10	T	C	1: 37,840,931 (GRCm39)	E425G	probably damaging	Het
Ttc7	A	G	17: 87,654,133 (GRCm39)		probably null	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Unc13a	T	C	8: 72,107,489 (GRCm39)	H601R	probably damaging	Het
Vmn2r102	A	T	17: 19,880,661 (GRCm39)	M1L	probably benign	Het
Vmn2r120	G	T	17: 57,816,125 (GRCm39)	N743K	probably damaging	Het
Wnt6	C	A	1: 74,823,295 (GRCm39)		probably null	Het
Wnt6	A	C	1: 74,823,296 (GRCm39)		probably null	Het
Wnt8a	T	A	18: 34,680,525 (GRCm39)	C297S	probably damaging	Het
Zfp786	T	C	6: 47,797,087 (GRCm39)	Q617R	probably benign	Het
Zfp91	A	G	19: 12,753,774 (GRCm39)		probably null	Het
Zw10	T	A	9: 48,979,983 (GRCm39)	F371L	probably damaging	Het

Other mutations in Speer4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00869:Speer4b	APN	5	27,703,716 (GRCm39)	missense	probably damaging	0.99
IGL00990:Speer4b	APN	5	27,706,272 (GRCm39)	missense	probably damaging	1.00
IGL01343:Speer4b	APN	5	27,702,881 (GRCm39)	missense	probably benign
R1586:Speer4b	UTSW	5	27,702,011 (GRCm39)	missense	probably damaging	0.98
R1772:Speer4b	UTSW	5	27,705,236 (GRCm39)	splice site	probably benign
R4239:Speer4b	UTSW	5	27,706,311 (GRCm39)	missense	probably benign	0.17
R4585:Speer4b	UTSW	5	27,703,036 (GRCm39)	missense	probably null	1.00
R4586:Speer4b	UTSW	5	27,703,036 (GRCm39)	missense	probably null	1.00
R4659:Speer4b	UTSW	5	27,702,893 (GRCm39)	missense	probably benign
R4915:Speer4b	UTSW	5	27,705,134 (GRCm39)	missense	probably benign	0.00
R5619:Speer4b	UTSW	5	27,703,815 (GRCm39)	missense	possibly damaging	0.84
R5860:Speer4b	UTSW	5	27,705,226 (GRCm39)	missense	possibly damaging	0.60
R6990:Speer4b	UTSW	5	27,702,076 (GRCm39)	nonsense	probably null
R7045:Speer4b	UTSW	5	27,705,123 (GRCm39)	missense	probably damaging	1.00
R7146:Speer4b	UTSW	5	27,703,708 (GRCm39)	missense	probably benign	0.00
R7170:Speer4b	UTSW	5	27,703,821 (GRCm39)	missense	possibly damaging	0.70
R8437:Speer4b	UTSW	5	27,703,818 (GRCm39)	missense	probably benign	0.01
R9763:Speer4b	UTSW	5	27,705,206 (GRCm39)	missense	probably damaging	0.98
Z1088:Speer4b	UTSW	5	27,702,939 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TCCTTAGGGGATGGAAAAGTACTG -3'
(R):5'- CTCCTGGAGAGTTCTTAGCAACC -3'

Sequencing Primer
(F):5'- GGATGGAAAAGTACTGTTCTGAAATC -3'
(R):5'- AGCAACCTCTGTGATGTTACCAGTG -3'

Posted On

2016-04-15