Mutagenetix > Incidental Mutation

Incidental Mutation 'R7481:Strbp'

579781

Institutional Source

Beutler Lab

Gene Symbol

Strbp

Ensembl Gene

ENSMUSG00000026915

Gene Name

spermatid perinuclear RNA binding protein

Synonyms

Spnr, C230082I21Rik, 6430510M02Rik

MMRRC Submission

045555-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.526) question?

Stock #

R7481 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37459880-37593890 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37490766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 496 (S496R)

Ref Sequence

ENSEMBL: ENSMUSP00000072047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028279] [ENSMUST00000072186] [ENSMUST00000183690]

AlphaFold

Q91WM1

Predicted Effect

probably benign
Transcript: ENSMUST00000028279
AA Change: S496R

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000028279
Gene: ENSMUSG00000026915
AA Change: S496R

Domain	Start	End	E-Value	Type
DZF	81	334	2.45e-168	SMART
DSRM	388	452	3.11e-16	SMART
low complexity region	474	497	N/A	INTRINSIC
DSRM	511	575	1.2e-22	SMART
low complexity region	578	593	N/A	INTRINSIC
low complexity region	608	618	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000072186
AA Change: S496R

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000072047
Gene: ENSMUSG00000026915
AA Change: S496R

Domain	Start	End	E-Value	Type
DZF	81	334	2.45e-168	SMART
DSRM	388	452	3.11e-16	SMART
low complexity region	474	497	N/A	INTRINSIC
DSRM	511	575	1.2e-22	SMART
low complexity region	578	593	N/A	INTRINSIC
low complexity region	608	618	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183690
AA Change: S496R

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000139145
Gene: ENSMUSG00000026915
AA Change: S496R

Domain	Start	End	E-Value	Type
DZF	81	334	2.45e-168	SMART
DSRM	388	452	3.11e-16	SMART
low complexity region	474	497	N/A	INTRINSIC
DSRM	511	575	1.2e-22	SMART
low complexity region	578	593	N/A	INTRINSIC
low complexity region	608	618	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap insertion exhibit premature death, a reduced body size and an abnormal clutching reflex. Minor brain abnormalities and spermatogenesis defects were also noted. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,494,575 (GRCm39)	F68S	unknown	Het
Abcb6	A	G	1: 75,150,248 (GRCm39)	F637L	probably damaging	Het
Aldh3b3	A	G	19: 4,014,549 (GRCm39)	M95V	probably benign	Het
Arhgap45	A	T	10: 79,858,134 (GRCm39)	H387L	possibly damaging	Het
Avil	C	T	10: 126,843,460 (GRCm39)	T130I	probably benign	Het
Bmal2	G	A	6: 146,720,369 (GRCm39)	A178T	not run	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
C3	C	A	17: 57,527,136 (GRCm39)	W771L	probably damaging	Het
C6	A	G	15: 4,844,357 (GRCm39)	I926M		Het
Cacna1b	G	A	2: 24,506,874 (GRCm39)	L1903F	probably damaging	Het
Car3	A	T	3: 14,928,632 (GRCm39)	M1L	probably benign	Het
Ccdc175	A	G	12: 72,202,398 (GRCm39)	I299T	probably benign	Het
Chd9	C	T	8: 91,683,066 (GRCm39)	T502I	unknown	Het
Clec4a1	G	A	6: 122,904,998 (GRCm39)	C99Y	probably damaging	Het
Col19a1	C	T	1: 24,356,788 (GRCm39)	G632R	probably damaging	Het
Dmbt1	A	T	7: 130,681,241 (GRCm39)		probably null	Het
Dop1a	A	T	9: 86,417,985 (GRCm39)	K1951N	probably damaging	Het
Dpf3	A	C	12: 83,378,701 (GRCm39)	L122R	probably damaging	Het
Edem3	A	T	1: 151,683,973 (GRCm39)	S687C	probably damaging	Het
Edem3	G	A	1: 151,683,974 (GRCm39)	S687N	possibly damaging	Het
Fig4	A	G	10: 41,106,001 (GRCm39)		probably null	Het
Fmnl2	A	G	2: 52,998,443 (GRCm39)	T603A	unknown	Het
Frmd6	T	A	12: 70,933,829 (GRCm39)	L249Q	probably damaging	Het
Glrx3	T	C	7: 137,046,751 (GRCm39)	C48R	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gm6133	A	T	18: 78,393,008 (GRCm39)	M1L	probably benign	Het
Gm9195	G	A	14: 72,720,116 (GRCm39)	T105I	probably benign	Het
Hk2	G	A	6: 82,737,150 (GRCm39)	T54I	probably benign	Het
Jade1	G	A	3: 41,559,125 (GRCm39)	G402D	probably benign	Het
Kmt2a	T	C	9: 44,720,368 (GRCm39)	D3873G	unknown	Het
Map6	A	T	7: 98,918,345 (GRCm39)	T373S	possibly damaging	Het
Megf9	T	C	4: 70,351,679 (GRCm39)	T481A	probably damaging	Het
Mtcl3	G	T	10: 29,072,519 (GRCm39)	V604L	probably damaging	Het
Mtus1	T	A	8: 41,537,652 (GRCm39)	K21N	probably damaging	Het
Muc5b	C	T	7: 141,414,908 (GRCm39)	T2618I	unknown	Het
Nbas	A	G	12: 13,406,960 (GRCm39)	I852M	probably damaging	Het
Or14j1	T	A	17: 38,146,289 (GRCm39)	M133K	probably damaging	Het
Or4a70	C	T	2: 89,324,636 (GRCm39)	V7I	probably benign	Het
Or5b121	A	T	19: 13,507,817 (GRCm39)	Q304L	probably damaging	Het
Or5d39	A	G	2: 87,980,105 (GRCm39)	I86T	probably benign	Het
Pank4	A	G	4: 155,054,495 (GRCm39)	N156S	probably damaging	Het
Pcdhga8	A	G	18: 37,860,990 (GRCm39)	E682G	probably benign	Het
Pde10a	C	A	17: 9,168,262 (GRCm39)	D312E	possibly damaging	Het
Pkhd1l1	A	G	15: 44,376,307 (GRCm39)	T990A	probably benign	Het
Rab11fip1	T	C	8: 27,646,609 (GRCm39)	T156A	probably damaging	Het
Rhbdd2	T	A	5: 135,665,031 (GRCm39)	S121T	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Ryr3	C	A	2: 112,508,438 (GRCm39)	R3418S	probably benign	Het
Ryr3	C	A	2: 112,508,439 (GRCm39)	R3418M	possibly damaging	Het
Sbno2	G	A	10: 79,893,333 (GRCm39)	P1323S	probably benign	Het
Sec24d	T	C	3: 123,144,412 (GRCm39)	C630R	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Skp2	A	T	15: 9,113,905 (GRCm39)	V371E	probably damaging	Het
Stxbp4	G	A	11: 90,485,639 (GRCm39)	T236I	possibly damaging	Het
Terf2	C	T	8: 107,799,353 (GRCm39)		probably null	Het
Thnsl1	A	T	2: 21,216,599 (GRCm39)	T118S	probably benign	Het
Tlnrd1	A	T	7: 83,531,546 (GRCm39)	V295E	probably damaging	Het
Ttll6	A	G	11: 96,045,672 (GRCm39)	T630A	probably benign	Het
Usp9y	G	T	Y: 1,432,180 (GRCm39)	A435E	probably benign	Het
Vil1	A	C	1: 74,459,058 (GRCm39)	R187S	probably damaging	Het
Vmn2r31	A	T	7: 7,387,579 (GRCm39)	V664E	possibly damaging	Het
Wdr17	T	C	8: 55,114,371 (GRCm39)	I693M	probably benign	Het
Wdr82	C	T	9: 106,053,865 (GRCm39)	T72I	probably damaging	Het
Zbtb5	A	G	4: 44,994,905 (GRCm39)	S160P	probably benign	Het
Zfat	G	A	15: 68,050,715 (GRCm39)	Q769*	probably null	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp937	T	A	2: 150,081,266 (GRCm39)	I432K	probably benign	Het
Zglp1	C	T	9: 20,973,903 (GRCm39)	S261N	probably benign	Het

Other mutations in Strbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Strbp	APN	2	37,476,516 (GRCm39)	splice site	probably benign
IGL00656:Strbp	APN	2	37,493,150 (GRCm39)	splice site	probably benign
IGL01376:Strbp	APN	2	37,535,663 (GRCm39)	missense	probably damaging	1.00
IGL01998:Strbp	APN	2	37,515,297 (GRCm39)	missense	probably damaging	1.00
IGL02347:Strbp	APN	2	37,535,660 (GRCm39)	missense	probably benign	0.25
IGL02453:Strbp	APN	2	37,476,520 (GRCm39)	critical splice donor site	probably null
IGL02804:Strbp	APN	2	37,514,498 (GRCm39)	splice site	probably benign
IGL03102:Strbp	APN	2	37,476,515 (GRCm39)	splice site	probably benign
PIT4418001:Strbp	UTSW	2	37,535,504 (GRCm39)	missense	probably benign
R0382:Strbp	UTSW	2	37,490,838 (GRCm39)	missense	probably benign	0.00
R0575:Strbp	UTSW	2	37,530,885 (GRCm39)	missense	possibly damaging	0.87
R0610:Strbp	UTSW	2	37,474,089 (GRCm39)	missense	probably damaging	0.97
R0825:Strbp	UTSW	2	37,525,539 (GRCm39)	missense	probably benign	0.00
R1829:Strbp	UTSW	2	37,530,921 (GRCm39)	missense	possibly damaging	0.63
R1831:Strbp	UTSW	2	37,515,277 (GRCm39)	missense	possibly damaging	0.71
R3416:Strbp	UTSW	2	37,480,737 (GRCm39)	missense	possibly damaging	0.94
R3417:Strbp	UTSW	2	37,480,737 (GRCm39)	missense	possibly damaging	0.94
R4673:Strbp	UTSW	2	37,535,691 (GRCm39)	missense	probably damaging	1.00
R5093:Strbp	UTSW	2	37,517,499 (GRCm39)	missense	probably damaging	0.99
R5099:Strbp	UTSW	2	37,493,030 (GRCm39)	missense	probably damaging	0.98
R5269:Strbp	UTSW	2	37,517,455 (GRCm39)	missense	possibly damaging	0.87
R5378:Strbp	UTSW	2	37,490,818 (GRCm39)	missense	probably benign	0.03
R5378:Strbp	UTSW	2	37,489,186 (GRCm39)	missense	probably damaging	1.00
R5454:Strbp	UTSW	2	37,535,495 (GRCm39)	missense	probably benign	0.00
R5905:Strbp	UTSW	2	37,515,267 (GRCm39)	missense	probably damaging	1.00
R6028:Strbp	UTSW	2	37,515,267 (GRCm39)	missense	probably damaging	1.00
R6374:Strbp	UTSW	2	37,493,020 (GRCm39)	missense	probably damaging	1.00
R6700:Strbp	UTSW	2	37,493,975 (GRCm39)	missense	probably null	0.01
R6800:Strbp	UTSW	2	37,515,228 (GRCm39)	missense	probably damaging	1.00
R7032:Strbp	UTSW	2	37,493,125 (GRCm39)	missense	possibly damaging	0.92
R7139:Strbp	UTSW	2	37,514,514 (GRCm39)	missense	probably benign	0.00
R7261:Strbp	UTSW	2	37,531,149 (GRCm39)	splice site	probably null
R7718:Strbp	UTSW	2	37,515,294 (GRCm39)	missense	probably damaging	1.00
R7959:Strbp	UTSW	2	37,530,906 (GRCm39)	missense	probably benign	0.00
R8921:Strbp	UTSW	2	37,514,503 (GRCm39)	critical splice donor site	probably null
R8936:Strbp	UTSW	2	37,493,949 (GRCm39)	nonsense	probably null
R9742:Strbp	UTSW	2	37,515,268 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCATAGGTATGTTGACAGATTC -3'
(R):5'- ACCATTCTTGTTCTTCATAGGGG -3'

Sequencing Primer
(F):5'- TCAGAGAGTTCCAACTGTGACTC -3'
(R):5'- TGTTCTTCATAGGGGTTTTAGTAAAC -3'

Posted On

2019-10-07