Mutagenetix > Incidental Mutation

Incidental Mutation 'R7099:Sidt1'

550728

Institutional Source

Beutler Lab

Gene Symbol

Sidt1

Ensembl Gene

ENSMUSG00000022696

Gene Name

SID1 transmembrane family, member 1

Synonyms

B830021E24Rik

MMRRC Submission

045191-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7099 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44060543-44153559 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44063860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 803 (S803P)

Ref Sequence

ENSEMBL: ENSMUSP00000038433 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047446] [ENSMUST00000136381]

AlphaFold

Q6AXF6

Predicted Effect

probably damaging
Transcript: ENSMUST00000047446
AA Change: S803P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038433
Gene: ENSMUSG00000022696
AA Change: S803P

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	36	50	N/A	INTRINSIC
Pfam:SID-1_RNA_chan	184	832	1.8e-290	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000136381
AA Change: S798P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115372
Gene: ENSMUSG00000022696
AA Change: S798P

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	36	50	N/A	INTRINSIC
Pfam:SID-1_RNA_chan	184	827	1.3e-251	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	C	T	16: 64,591,151 (GRCm39)	A26T	probably benign	Het
Acly	T	C	11: 100,383,117 (GRCm39)		probably null	Het
Adam29	A	C	8: 56,324,439 (GRCm39)	L672V	probably benign	Het
Adgrf1	T	C	17: 43,621,493 (GRCm39)	S577P	probably benign	Het
Ankar	T	C	1: 72,682,452 (GRCm39)	K1371R	probably damaging	Het
Arid5b	T	C	10: 67,934,009 (GRCm39)	D631G	probably damaging	Het
Brpf3	T	C	17: 29,025,611 (GRCm39)	V228A	probably benign	Het
C3	T	C	17: 57,513,276 (GRCm39)	D1457G	probably benign	Het
Calr4	A	T	4: 109,099,426 (GRCm39)	N143I	probably benign	Het
Catsperd	T	G	17: 56,935,811 (GRCm39)		probably null	Het
Cobl	T	A	11: 12,246,540 (GRCm39)	H154L		Het
Cryzl2	G	A	1: 157,316,154 (GRCm39)		probably benign	Het
Dennd1c	A	G	17: 57,374,915 (GRCm39)		probably null	Het
Dnah8	A	T	17: 30,923,698 (GRCm39)	D1222V	possibly damaging	Het
Errfi1	T	C	4: 150,951,225 (GRCm39)	S218P	probably benign	Het
Fbxw27	G	T	9: 109,599,223 (GRCm39)	T398N	probably damaging	Het
Fhod3	A	G	18: 25,223,219 (GRCm39)	D855G	probably benign	Het
Flii	A	G	11: 60,611,481 (GRCm39)	V410A	probably benign	Het
Fsip2	C	A	2: 82,817,968 (GRCm39)	P4567Q	probably benign	Het
Fxyd1	T	G	7: 30,752,458 (GRCm39)	Q66H	probably damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gramd2b	C	T	18: 56,625,017 (GRCm39)	T370I	probably benign	Het
Kdr	A	G	5: 76,104,993 (GRCm39)	V1079A	probably damaging	Het
Lmx1a	G	A	1: 167,658,115 (GRCm39)	G166D	probably damaging	Het
Lrrfip2	A	G	9: 111,002,176 (GRCm39)	R92G	probably benign	Het
Map1a	T	A	2: 121,130,998 (GRCm39)	S605T	probably benign	Het
Megf8	A	T	7: 25,045,945 (GRCm39)	D1496V	probably damaging	Het
Mgam	T	C	6: 40,638,650 (GRCm39)	V461A	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Nav3	T	C	10: 109,539,195 (GRCm39)	T2069A	probably benign	Het
Nbeal2	A	T	9: 110,474,506 (GRCm39)		probably null	Het
Ndst1	A	G	18: 60,828,572 (GRCm39)	F661L	possibly damaging	Het
Neu3	G	A	7: 99,463,027 (GRCm39)	T232M	possibly damaging	Het
Nf1	T	C	11: 79,461,156 (GRCm39)	S741P	probably benign	Het
Nr5a1	G	T	2: 38,584,148 (GRCm39)	L424M	probably damaging	Het
Nuf2	G	A	1: 169,333,641 (GRCm39)	T345M	probably benign	Het
Or4d10c	A	G	19: 12,065,530 (GRCm39)	F209L	possibly damaging	Het
Or4k51	A	T	2: 111,585,421 (GRCm39)	T276S	probably benign	Het
Or6d12	T	A	6: 116,493,721 (GRCm39)	*328R	probably null	Het
Or8g33	G	A	9: 39,337,599 (GRCm39)	T256I	probably benign	Het
Otud7a	A	G	7: 63,407,203 (GRCm39)	E502G	possibly damaging	Het
Otulin	A	G	15: 27,608,832 (GRCm39)	L237S	probably damaging	Het
Pias1	A	G	9: 62,788,427 (GRCm39)	M79T		Het
Prom2	T	C	2: 127,381,698 (GRCm39)	E206G	probably benign	Het
Scarb1	A	T	5: 125,381,414 (GRCm39)	N43K	probably damaging	Het
Sdad1	A	G	5: 92,441,832 (GRCm39)	V365A	possibly damaging	Het
Sdk2	T	C	11: 113,725,731 (GRCm39)	T1173A	probably damaging	Het
Slc45a1	A	T	4: 150,714,030 (GRCm39)	D738E	probably benign	Het
Slc4a7	T	A	14: 14,733,750 (GRCm38)	H53Q	probably damaging	Het
Spata22	T	C	11: 73,231,225 (GRCm39)	F160L	probably benign	Het
Stag1	G	A	9: 100,826,879 (GRCm39)	V949I	probably benign	Het
Syne1	T	C	10: 5,073,744 (GRCm39)	S1200G	probably benign	Het
Tbc1d9	A	G	8: 83,981,520 (GRCm39)	E729G	probably damaging	Het
Tcaf2	C	T	6: 42,607,275 (GRCm39)	M226I	probably benign	Het
Tep1	T	C	14: 51,081,944 (GRCm39)		probably null	Het
Tigd2	C	A	6: 59,187,166 (GRCm39)	T11K	probably damaging	Het
Trappc9	A	G	15: 72,565,468 (GRCm39)	V941A	probably benign	Het
Ugt2b37	A	G	5: 87,388,848 (GRCm39)	M455T	probably benign	Het
Usp42	A	T	5: 143,712,400 (GRCm39)	S95T	probably damaging	Het
Usp44	T	C	10: 93,686,049 (GRCm39)	I488T	possibly damaging	Het
Vmn1r73	T	C	7: 11,490,320 (GRCm39)	I46T	probably damaging	Het
Vmn2r34	A	T	7: 7,675,540 (GRCm39)	I616N	probably damaging	Het
Zfp352	A	G	4: 90,113,117 (GRCm39)	K419R	probably benign	Het
Zfp595	T	A	13: 67,465,711 (GRCm39)	H187L	probably damaging	Het
Zfp804b	A	T	5: 6,822,161 (GRCm39)	S301T	probably benign	Het
Zzef1	T	C	11: 72,763,475 (GRCm39)	V1374A	possibly damaging	Het

Other mutations in Sidt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00709:Sidt1	APN	16	44,082,374 (GRCm39)	splice site	probably benign
IGL01103:Sidt1	APN	16	44,063,906 (GRCm39)	nonsense	probably null
IGL01725:Sidt1	APN	16	44,104,645 (GRCm39)	missense	probably benign	0.06
IGL02000:Sidt1	APN	16	44,106,732 (GRCm39)	missense	probably damaging	0.98
IGL02266:Sidt1	APN	16	44,075,348 (GRCm39)	missense	possibly damaging	0.90
IGL02309:Sidt1	APN	16	44,075,343 (GRCm39)	missense	probably benign	0.00
IGL02898:Sidt1	APN	16	44,102,858 (GRCm39)	missense	possibly damaging	0.87
R0282:Sidt1	UTSW	16	44,102,249 (GRCm39)	missense	possibly damaging	0.79
R0525:Sidt1	UTSW	16	44,079,809 (GRCm39)	missense	possibly damaging	0.64
R0927:Sidt1	UTSW	16	44,063,895 (GRCm39)	missense	probably benign	0.00
R1806:Sidt1	UTSW	16	44,102,234 (GRCm39)	missense	possibly damaging	0.46
R1911:Sidt1	UTSW	16	44,102,234 (GRCm39)	missense	possibly damaging	0.81
R3843:Sidt1	UTSW	16	44,104,587 (GRCm39)	missense	probably benign	0.04
R3848:Sidt1	UTSW	16	44,076,322 (GRCm39)	intron	probably benign
R4023:Sidt1	UTSW	16	44,102,249 (GRCm39)	missense	possibly damaging	0.79
R4026:Sidt1	UTSW	16	44,102,249 (GRCm39)	missense	possibly damaging	0.79
R4495:Sidt1	UTSW	16	44,102,841 (GRCm39)	missense	probably damaging	1.00
R4603:Sidt1	UTSW	16	44,075,389 (GRCm39)	missense	probably damaging	0.98
R4707:Sidt1	UTSW	16	44,090,221 (GRCm39)	nonsense	probably null
R5322:Sidt1	UTSW	16	44,101,985 (GRCm39)	intron	probably benign
R5921:Sidt1	UTSW	16	44,094,098 (GRCm39)	splice site	probably benign
R5980:Sidt1	UTSW	16	44,083,675 (GRCm39)	nonsense	probably null
R5982:Sidt1	UTSW	16	44,082,071 (GRCm39)	missense	probably damaging	1.00
R6063:Sidt1	UTSW	16	44,079,829 (GRCm39)	missense	probably benign	0.01
R6337:Sidt1	UTSW	16	44,121,298 (GRCm39)	splice site	probably null
R6392:Sidt1	UTSW	16	44,111,657 (GRCm39)	missense	possibly damaging	0.47
R6855:Sidt1	UTSW	16	44,065,706 (GRCm39)	missense	probably null	1.00
R7092:Sidt1	UTSW	16	44,120,192 (GRCm39)	missense	possibly damaging	0.89
R7448:Sidt1	UTSW	16	44,106,763 (GRCm39)	nonsense	probably null
R7574:Sidt1	UTSW	16	44,079,848 (GRCm39)	missense	probably damaging	1.00
R8265:Sidt1	UTSW	16	44,088,250 (GRCm39)	missense	possibly damaging	0.79
R8379:Sidt1	UTSW	16	44,106,755 (GRCm39)	missense	probably benign	0.14
R8460:Sidt1	UTSW	16	44,107,705 (GRCm39)	nonsense	probably null
R8480:Sidt1	UTSW	16	44,065,529 (GRCm39)	missense	probably damaging	1.00
R8762:Sidt1	UTSW	16	44,152,707 (GRCm39)	missense	probably benign	0.16
R8954:Sidt1	UTSW	16	44,082,390 (GRCm39)	missense	probably benign	0.04
R8974:Sidt1	UTSW	16	44,101,980 (GRCm39)	makesense	probably null
R9362:Sidt1	UTSW	16	44,078,316 (GRCm39)	missense	possibly damaging	0.96
R9451:Sidt1	UTSW	16	44,075,392 (GRCm39)	critical splice acceptor site	probably null
R9669:Sidt1	UTSW	16	44,102,243 (GRCm39)	missense	probably damaging	1.00
R9737:Sidt1	UTSW	16	44,102,243 (GRCm39)	missense	probably damaging	1.00
Z1176:Sidt1	UTSW	16	44,079,845 (GRCm39)	missense	possibly damaging	0.90
Z1191:Sidt1	UTSW	16	44,078,294 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTCTGTGTGTCCAAACATTGAAAAG -3'
(R):5'- CTGACTTTCTGGGCGCTTAG -3'

Sequencing Primer
(F):5'- TGTGTCCAAACATTGAAAAGTAGAG -3'
(R):5'- CGCTTAGTAGGATTTTTGTAGCTTCC -3'

Posted On

2019-05-15