Mutagenetix > Incidental Mutation

Incidental Mutation 'R9406:Sestd1'

711515

Institutional Source

Beutler Lab

Gene Symbol

Sestd1

Ensembl Gene

ENSMUSG00000042272

Gene Name

SEC14 and spectrin domains 1

Synonyms

1500031J16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9406 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77010684-77110936 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 77075421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102659] [ENSMUST00000102660]

AlphaFold

Q80UK0

Predicted Effect

probably benign
Transcript: ENSMUST00000102659

SMART Domains

Protein: ENSMUSP00000099720
Gene: ENSMUSG00000042272

Domain	Start	End	E-Value	Type
Pfam:CRAL_TRIO_2	13	154	2.9e-13	PFAM
SPEC	275	378	3.27e0	SMART
Blast:SPEC	381	494	1e-51	BLAST
SPEC	500	602	5.79e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102660

SMART Domains

Protein: ENSMUSP00000099721
Gene: ENSMUSG00000042272

Domain	Start	End	E-Value	Type
Pfam:CRAL_TRIO_2	27	154	1.5e-9	PFAM
SPEC	275	378	3.27e0	SMART
Blast:SPEC	381	494	1e-51	BLAST
SPEC	500	602	5.79e-2	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, short and curly tail, absent genital tubercle, blind-end colon, hydronephrosis, absent bladder and more rounded posterior contour. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	A	G	17: 35,879,487 (GRCm39)	Y275C	possibly damaging	Het
4932414N04Rik	A	G	2: 68,498,019 (GRCm39)	K150R	unknown	Het
Aatf	ACACACACACACACACACACACACACACACACACACACACACACACAC	ACACACACACACACACACACACACACACACACACACACACACACACACAC	11: 84,361,866 (GRCm39)		probably null	Het
Ank3	C	A	10: 69,645,011 (GRCm39)	T92K	unknown	Het
Armh4	C	T	14: 50,010,945 (GRCm39)	G254E	possibly damaging	Het
Cdca2	T	C	14: 67,937,772 (GRCm39)	S294G	unknown	Het
Cerk	A	G	15: 86,028,787 (GRCm39)	I423T	possibly damaging	Het
Cfap74	A	T	4: 155,510,626 (GRCm39)	K404*	probably null	Het
Cftr	T	C	6: 18,299,866 (GRCm39)	V1213A	probably benign	Het
Chst11	A	G	10: 83,026,881 (GRCm39)	T103A	possibly damaging	Het
Col22a1	A	G	15: 71,845,541 (GRCm39)	I407T	probably damaging	Het
Cpn2	A	G	16: 30,078,360 (GRCm39)	V447A	probably benign	Het
Crybg3	T	C	16: 59,378,839 (GRCm39)	E805G	probably benign	Het
Cstb	A	G	10: 78,263,173 (GRCm39)	H66R	probably benign	Het
Cyp2g1	T	C	7: 26,518,910 (GRCm39)		probably null	Het
Fkbp1b	G	T	12: 4,883,732 (GRCm39)	H88N	probably benign	Het
Gm4884	A	T	7: 40,692,565 (GRCm39)	D178V	probably damaging	Het
Grik5	T	C	7: 24,757,969 (GRCm39)	T371A	probably benign	Het
Hydin	G	A	8: 111,314,412 (GRCm39)	G4299S	probably null	Het
Ibtk	A	T	9: 85,603,393 (GRCm39)	Y537*	probably null	Het
Ighv8-9	A	G	12: 115,432,257 (GRCm39)	L18P	probably damaging	Het
Lbp	G	T	2: 158,159,477 (GRCm39)	K203N	probably benign	Het
Lilra6	C	T	7: 3,917,853 (GRCm39)	R97Q	probably benign	Het
Man1c1	A	G	4: 134,303,318 (GRCm39)	I392T	probably damaging	Het
Mcf2l	A	T	8: 13,059,676 (GRCm39)	H727L	probably damaging	Het
Med7	T	A	11: 46,331,865 (GRCm39)	F153L	probably benign	Het
Neurl1b	G	C	17: 26,657,820 (GRCm39)	V253L	probably benign	Het
Noc2l	T	C	4: 156,320,511 (GRCm39)	S4P	probably benign	Het
Obscn	A	C	11: 58,947,805 (GRCm39)	F4408C		Het
Or1j17	A	G	2: 36,578,296 (GRCm39)	Y94C	possibly damaging	Het
Or4f62	A	G	2: 111,986,643 (GRCm39)	I116V	probably benign	Het
Orc2	T	C	1: 58,506,842 (GRCm39)	Q498R	probably damaging	Het
Oxsm	A	C	14: 16,242,531 (GRCm38)	D79E	probably benign	Het
Pask	G	A	1: 93,251,987 (GRCm39)	T464I	probably benign	Het
Pcdha8	A	G	18: 37,126,922 (GRCm39)	N468S	probably damaging	Het
Pcm1	T	A	8: 41,728,722 (GRCm39)	V565E	probably damaging	Het
Pcsk5	T	C	19: 17,771,097 (GRCm39)	I67V	probably benign	Het
Pde4d	A	G	13: 109,877,064 (GRCm39)	D139G	probably damaging	Het
Pdzd8	C	T	19: 59,333,245 (GRCm39)	E259K		Het
Phactr3	T	C	2: 177,925,856 (GRCm39)	L377P	probably damaging	Het
Ppargc1b	G	A	18: 61,444,051 (GRCm39)	P387S	possibly damaging	Het
Prmt7	T	G	8: 106,970,435 (GRCm39)	V426G	probably damaging	Het
Rab39	G	C	9: 53,597,915 (GRCm39)	P117A	probably damaging	Het
Rab40b	G	A	11: 121,254,352 (GRCm39)	R62*	probably null	Het
Rpf1	T	G	3: 146,213,937 (GRCm39)	H220P	probably damaging	Het
Rps6kl1	A	G	12: 85,186,280 (GRCm39)	I276T	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Slc38a6	T	A	12: 73,376,767 (GRCm39)	Y140*	probably null	Het
Smpd1	C	A	7: 105,203,750 (GRCm39)	H4Q	possibly damaging	Het
Sox8	A	T	17: 25,786,634 (GRCm39)	S356R	probably damaging	Het
Tapbpl	A	G	6: 125,205,319 (GRCm39)	L209P	probably damaging	Het
Txndc11	A	G	16: 10,893,498 (GRCm39)	L744P	probably benign	Het
Ush2a	C	T	1: 187,995,646 (GRCm39)	P139L	probably benign	Het
Vmn1r54	A	T	6: 90,246,092 (GRCm39)	N2I	probably damaging	Het
Vmn2r112	C	T	17: 22,824,223 (GRCm39)	Q493*	probably null	Het
Vps16	T	C	2: 130,283,425 (GRCm39)		probably null	Het
Zfp40	A	T	17: 23,396,129 (GRCm39)	S153T	possibly damaging	Het
Zfp523	G	A	17: 28,416,840 (GRCm39)	A109T	probably benign	Het
Zfp78	A	T	7: 6,382,182 (GRCm39)	N411Y	probably benign	Het

Other mutations in Sestd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00488:Sestd1	APN	2	77,042,796 (GRCm39)	missense	possibly damaging	0.53
IGL00725:Sestd1	APN	2	77,018,866 (GRCm39)	missense	probably benign
IGL01317:Sestd1	APN	2	77,022,889 (GRCm39)	missense	possibly damaging	0.73
IGL01649:Sestd1	APN	2	77,029,389 (GRCm39)	missense	probably damaging	1.00
IGL01953:Sestd1	APN	2	77,042,813 (GRCm39)	missense	possibly damaging	0.91
IGL02439:Sestd1	APN	2	77,027,174 (GRCm39)	missense	possibly damaging	0.49
R0408:Sestd1	UTSW	2	77,022,137 (GRCm39)	missense	probably damaging	1.00
R0562:Sestd1	UTSW	2	77,061,066 (GRCm39)	missense	probably benign	0.10
R0788:Sestd1	UTSW	2	77,022,060 (GRCm39)	missense	probably damaging	1.00
R1518:Sestd1	UTSW	2	77,071,976 (GRCm39)	missense	probably damaging	1.00
R2119:Sestd1	UTSW	2	77,042,867 (GRCm39)	missense	probably benign	0.00
R4659:Sestd1	UTSW	2	77,042,843 (GRCm39)	missense	probably null	0.75
R5698:Sestd1	UTSW	2	77,048,512 (GRCm39)	missense	possibly damaging	0.90
R5927:Sestd1	UTSW	2	77,017,503 (GRCm39)	missense	probably benign	0.00
R7046:Sestd1	UTSW	2	77,022,910 (GRCm39)	missense	probably benign	0.32
R8361:Sestd1	UTSW	2	77,017,572 (GRCm39)	missense	probably benign	0.15
R8468:Sestd1	UTSW	2	77,022,090 (GRCm39)	missense	probably benign	0.32
R8962:Sestd1	UTSW	2	77,042,708 (GRCm39)	missense	probably benign
X0023:Sestd1	UTSW	2	77,029,376 (GRCm39)	missense	probably benign	0.05
X0057:Sestd1	UTSW	2	77,048,537 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GGCCTTGAAAACAAAACCTGTATAG -3'
(R):5'- TGTCTACAGCTAGTGTTCTGGC -3'

Sequencing Primer
(F):5'- AACCTGTATAGACTGAGCCCTGG -3'
(R):5'- CCCAGGAGTGTTGCTCTGAAAAAC -3'

Posted On

2022-05-16