Mutagenetix > Incidental Mutation

Incidental Mutation 'R1446:Srbd1'

158912

Institutional Source

Beutler Lab

Gene Symbol

Srbd1

Ensembl Gene

ENSMUSG00000024135

Gene Name

S1 RNA binding domain 1

Synonyms

D530025C17Rik

MMRRC Submission

039501-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R1446 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86292093-86452603 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86446580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 60 (K60E)

Ref Sequence

ENSEMBL: ENSMUSP00000092810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095187]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000095187
AA Change: K60E

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000092810
Gene: ENSMUSG00000024135
AA Change: K60E

Domain	Start	End	E-Value	Type
low complexity region	20	33	N/A	INTRINSIC
low complexity region	104	128	N/A	INTRINSIC
Pfam:Tex_N	213	403	2.8e-43	PFAM
YqgFc	532	631	4.1e-32	SMART
Pfam:HHH_7	668	764	1.6e-6	PFAM
Pfam:HHH_3	698	762	4.2e-25	PFAM
S1	903	978	7e-15	SMART

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	T	5: 77,034,136 (GRCm39)	A472T	probably benign	Het
Adcy4	A	T	14: 56,007,480 (GRCm39)		probably null	Het
Ahcyl2	T	C	6: 29,891,239 (GRCm39)	S448P	probably damaging	Het
Anks1b	A	G	10: 90,346,935 (GRCm39)	Y745C	probably benign	Het
Anxa1	A	T	19: 20,351,103 (GRCm39)	L339Q	probably damaging	Het
Apoa4	A	G	9: 46,153,591 (GRCm39)	D64G	probably benign	Het
Arpc1a	A	G	5: 145,037,896 (GRCm39)		probably null	Het
Bank1	C	T	3: 135,769,904 (GRCm39)	G727R	probably damaging	Het
Best2	T	C	8: 85,734,593 (GRCm39)	Q375R	probably benign	Het
Cacna1b	T	A	2: 24,596,189 (GRCm39)	M501L	probably benign	Het
Col27a1	T	A	4: 63,143,040 (GRCm39)	Y243N	probably damaging	Het
Cyp11a1	A	T	9: 57,922,560 (GRCm39)	Q80L	possibly damaging	Het
Dnah10	T	A	5: 124,866,860 (GRCm39)	W2260R	probably damaging	Het
Dnajc19	T	C	3: 34,112,128 (GRCm39)	H139R	probably benign	Het
Dppa5a	T	A	9: 78,275,071 (GRCm39)	N77I	probably benign	Het
Edc4	T	C	8: 106,614,764 (GRCm39)	S125P	probably damaging	Het
Eid2	T	C	7: 27,968,014 (GRCm39)	I212T	possibly damaging	Het
Fam234b	T	A	6: 135,186,328 (GRCm39)		probably null	Het
Frem2	T	C	3: 53,562,017 (GRCm39)	E830G	probably benign	Het
Fyb1	A	T	15: 6,681,947 (GRCm39)	I765L	probably benign	Het
Fyn	T	G	10: 39,398,775 (GRCm39)	S124A	probably benign	Het
Gal3st3	T	A	19: 5,356,939 (GRCm39)	F105I	probably damaging	Het
Gpr146	A	G	5: 139,379,177 (GRCm39)	I326M	probably benign	Het
Grk2	G	A	19: 4,337,437 (GRCm39)	R617C	possibly damaging	Het
Gsn	A	G	2: 35,196,598 (GRCm39)	K669R	probably benign	Het
H2-T10	A	T	17: 36,430,266 (GRCm39)	I225N	possibly damaging	Het
Il12rb2	T	C	6: 67,286,127 (GRCm39)	H106R	probably benign	Het
Kat14	A	G	2: 144,215,638 (GRCm39)	E41G	probably damaging	Het
Kcnma1	G	T	14: 23,361,792 (GRCm39)	T1006K	probably damaging	Het
Kif18b	G	A	11: 102,805,525 (GRCm39)	T244I	probably damaging	Het
Klb	A	T	5: 65,506,338 (GRCm39)	H195L	probably damaging	Het
Lrriq4	T	C	3: 30,704,727 (GRCm39)	F252L	probably benign	Het
Lum	C	T	10: 97,404,252 (GRCm39)	T49I	possibly damaging	Het
Map3k4	T	A	17: 12,475,681 (GRCm39)	L84*	probably null	Het
Mindy2	A	G	9: 70,514,738 (GRCm39)		probably null	Het
Mpped2	G	T	2: 106,614,077 (GRCm39)	R137L	possibly damaging	Het
Myo18b	G	A	5: 112,905,425 (GRCm39)	R2058W	probably damaging	Het
Nol8	T	A	13: 49,808,703 (GRCm39)	L65Q	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or4c108	A	G	2: 88,804,109 (GRCm39)	I42T	probably benign	Het
Or4x6	A	T	2: 89,949,202 (GRCm39)	L247M	probably damaging	Het
Or5b105	G	A	19: 13,080,380 (GRCm39)	A96V	possibly damaging	Het
Or5g9	A	G	2: 85,551,917 (GRCm39)	H56R	probably damaging	Het
Or8b3	T	G	9: 38,314,601 (GRCm39)	C144G	possibly damaging	Het
Or9a4	C	T	6: 40,548,833 (GRCm39)	S171L	probably benign	Het
Parp12	G	T	6: 39,079,495 (GRCm39)	D338E	probably benign	Het
Pde6d	T	C	1: 86,474,414 (GRCm39)	E77G	probably damaging	Het
Phkg1	A	C	5: 129,902,055 (GRCm39)		probably null	Het
Pigw	A	C	11: 84,769,186 (GRCm39)	S48A	probably benign	Het
Pkm	T	A	9: 59,576,193 (GRCm39)		probably null	Het
Ppp1r3f	G	A	X: 7,426,602 (GRCm39)	T553M	probably damaging	Het
Retreg2	T	A	1: 75,120,103 (GRCm39)	F44L	possibly damaging	Het
Ryr2	A	T	13: 11,753,035 (GRCm39)	M1762K	probably benign	Het
Sec16a	A	G	2: 26,313,579 (GRCm39)	V1927A	probably benign	Het
Sec23a	G	T	12: 59,025,345 (GRCm39)	A492E	probably damaging	Het
Skint4	T	A	4: 111,975,311 (GRCm39)	H82Q	probably benign	Het
Stk24	A	G	14: 121,545,456 (GRCm39)	Y101H	probably damaging	Het
Sult1e1	A	T	5: 87,726,396 (GRCm39)	N239K	probably damaging	Het
Tgs1	C	T	4: 3,604,848 (GRCm39)	P757S	probably damaging	Het
Tmc2	A	T	2: 130,090,650 (GRCm39)	E665D	probably damaging	Het
Tmprss15	C	A	16: 78,875,846 (GRCm39)	D163Y	probably benign	Het
Unc13a	C	A	8: 72,101,625 (GRCm39)	V1009L	possibly damaging	Het
Unc45b	G	T	11: 82,819,496 (GRCm39)	G490C	probably damaging	Het
Vmn1r177	T	A	7: 23,565,765 (GRCm39)	H37L	probably damaging	Het
Vwa5a	A	G	9: 38,645,264 (GRCm39)	M450V	possibly damaging	Het
Wars2	T	C	3: 99,094,843 (GRCm39)	I46T	probably benign	Het
Wdfy3	G	T	5: 101,999,176 (GRCm39)	T3098K	possibly damaging	Het
Zan	A	T	5: 137,387,622 (GRCm39)	I4863N	unknown	Het
Zfp616	A	G	11: 73,974,064 (GRCm39)		probably null	Het
Zfp770	A	T	2: 114,027,514 (GRCm39)	I185N	probably damaging	Het
Zfp808	T	G	13: 62,320,821 (GRCm39)	H683Q	probably damaging	Het
Zmym4	A	T	4: 126,776,275 (GRCm39)	W1221R	probably damaging	Het

Other mutations in Srbd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00963:Srbd1	APN	17	86,422,637 (GRCm39)	missense	probably damaging	1.00
IGL00988:Srbd1	APN	17	86,437,698 (GRCm39)	missense	probably damaging	0.96
IGL01111:Srbd1	APN	17	86,405,961 (GRCm39)	missense	probably benign	0.15
IGL02186:Srbd1	APN	17	86,416,659 (GRCm39)	missense	probably benign
IGL02233:Srbd1	APN	17	86,406,050 (GRCm39)	splice site	probably null
IGL02307:Srbd1	APN	17	86,433,616 (GRCm39)	missense	probably damaging	1.00
IGL02392:Srbd1	APN	17	86,295,801 (GRCm39)	missense	probably benign	0.34
IGL02831:Srbd1	APN	17	86,311,299 (GRCm39)	missense	probably damaging	1.00
IGL03299:Srbd1	APN	17	86,428,087 (GRCm39)	missense	possibly damaging	0.95
PIT4494001:Srbd1	UTSW	17	86,449,787 (GRCm39)	critical splice donor site	probably null
PIT4677001:Srbd1	UTSW	17	86,422,640 (GRCm39)	nonsense	probably null
R0233:Srbd1	UTSW	17	86,365,173 (GRCm39)	missense	probably damaging	1.00
R0233:Srbd1	UTSW	17	86,365,173 (GRCm39)	missense	probably damaging	1.00
R0464:Srbd1	UTSW	17	86,427,430 (GRCm39)	missense	probably damaging	1.00
R0692:Srbd1	UTSW	17	86,443,888 (GRCm39)	missense	probably benign	0.25
R0771:Srbd1	UTSW	17	86,437,682 (GRCm39)	missense	probably benign	0.09
R1074:Srbd1	UTSW	17	86,311,380 (GRCm39)	missense	probably damaging	1.00
R1173:Srbd1	UTSW	17	86,405,940 (GRCm39)	missense	probably null	1.00
R1587:Srbd1	UTSW	17	86,292,865 (GRCm39)	missense	probably damaging	1.00
R1780:Srbd1	UTSW	17	86,365,113 (GRCm39)	missense	probably damaging	1.00
R1865:Srbd1	UTSW	17	86,422,732 (GRCm39)	splice site	probably benign
R1933:Srbd1	UTSW	17	86,410,321 (GRCm39)	missense	probably damaging	1.00
R1934:Srbd1	UTSW	17	86,410,321 (GRCm39)	missense	probably damaging	1.00
R2002:Srbd1	UTSW	17	86,449,828 (GRCm39)	missense	probably benign
R2228:Srbd1	UTSW	17	86,292,651 (GRCm39)	missense	probably damaging	1.00
R3160:Srbd1	UTSW	17	86,437,643 (GRCm39)	missense	probably benign	0.03
R3162:Srbd1	UTSW	17	86,437,643 (GRCm39)	missense	probably benign	0.03
R3162:Srbd1	UTSW	17	86,437,643 (GRCm39)	missense	probably benign	0.03
R3439:Srbd1	UTSW	17	86,365,187 (GRCm39)	missense	probably benign	0.01
R3611:Srbd1	UTSW	17	86,410,355 (GRCm39)	missense	probably benign	0.03
R4255:Srbd1	UTSW	17	86,410,350 (GRCm39)	missense	possibly damaging	0.80
R4300:Srbd1	UTSW	17	86,292,632 (GRCm39)	missense	probably damaging	0.98
R4319:Srbd1	UTSW	17	86,358,578 (GRCm39)	missense	probably damaging	1.00
R4619:Srbd1	UTSW	17	86,416,693 (GRCm39)	missense	probably benign	0.30
R4620:Srbd1	UTSW	17	86,416,693 (GRCm39)	missense	probably benign	0.30
R4629:Srbd1	UTSW	17	86,428,100 (GRCm39)	missense	probably damaging	0.99
R5379:Srbd1	UTSW	17	86,308,964 (GRCm39)	missense	possibly damaging	0.88
R5469:Srbd1	UTSW	17	86,427,370 (GRCm39)	missense	possibly damaging	0.77
R5587:Srbd1	UTSW	17	86,435,229 (GRCm39)	missense	probably damaging	0.99
R5726:Srbd1	UTSW	17	86,428,157 (GRCm39)	missense	possibly damaging	0.89
R6166:Srbd1	UTSW	17	86,406,696 (GRCm39)	missense	probably damaging	1.00
R6237:Srbd1	UTSW	17	86,292,723 (GRCm39)	missense	probably damaging	0.99
R6696:Srbd1	UTSW	17	86,446,619 (GRCm39)	missense	possibly damaging	0.46
R6971:Srbd1	UTSW	17	86,406,718 (GRCm39)	missense	possibly damaging	0.79
R6986:Srbd1	UTSW	17	86,292,650 (GRCm39)	missense	probably damaging	1.00
R7018:Srbd1	UTSW	17	86,443,843 (GRCm39)	missense	possibly damaging	0.93
R7082:Srbd1	UTSW	17	86,365,160 (GRCm39)	missense	probably damaging	1.00
R7209:Srbd1	UTSW	17	86,308,948 (GRCm39)	missense	probably damaging	1.00
R7340:Srbd1	UTSW	17	86,443,782 (GRCm39)	missense	probably benign	0.02
R7417:Srbd1	UTSW	17	86,443,749 (GRCm39)	missense	probably benign
R7467:Srbd1	UTSW	17	86,406,702 (GRCm39)	missense	probably damaging	0.96
R7833:Srbd1	UTSW	17	86,292,882 (GRCm39)	missense	possibly damaging	0.63
R8720:Srbd1	UTSW	17	86,358,571 (GRCm39)	missense	probably damaging	1.00
R8839:Srbd1	UTSW	17	86,295,849 (GRCm39)	missense	probably benign
R8899:Srbd1	UTSW	17	86,292,885 (GRCm39)	missense
R8905:Srbd1	UTSW	17	86,308,890 (GRCm39)	missense	probably benign	0.00
R9051:Srbd1	UTSW	17	86,428,115 (GRCm39)	missense	possibly damaging	0.70
R9402:Srbd1	UTSW	17	86,406,705 (GRCm39)	missense	probably benign	0.26
R9701:Srbd1	UTSW	17	86,433,559 (GRCm39)	missense	probably damaging	1.00
R9729:Srbd1	UTSW	17	86,437,550 (GRCm39)	missense	probably benign
R9733:Srbd1	UTSW	17	86,422,711 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACCAGAGATACCAGTGCCCTGAAG -3'
(R):5'- AGTGGTGTGACGTGACCCAGTAAG -3'

Sequencing Primer
(F):5'- TACCAGTGCCCTGAAGTTTGTG -3'
(R):5'- TATTATGCTCGTCAGGTCAGAGAAG -3'

Posted On

2014-03-14