Mutagenetix > Incidental Mutation

Incidental Mutation 'R6974:Ist1'

542357

Institutional Source

Beutler Lab

Gene Symbol

Ist1

Ensembl Gene

ENSMUSG00000031729

Gene Name

increased sodium tolerance 1 homolog (yeast)

Synonyms

2400003C14Rik

MMRRC Submission

045084-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.883) question?

Stock #

R6974 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110397957-110419892 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110404284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 196 (I196N)

Ref Sequence

ENSEMBL: ENSMUSP00000034164 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034164]

AlphaFold

Q9CX00

Predicted Effect

probably damaging
Transcript: ENSMUST00000034164
AA Change: I196N

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034164
Gene: ENSMUSG00000031729
AA Change: I196N

Domain	Start	End	E-Value	Type
Pfam:Ist1	12	176	4.4e-65	PFAM
low complexity region	207	226	N/A	INTRINSIC
low complexity region	229	239	N/A	INTRINSIC
internal_repeat_1	240	278	8.47e-5	PROSPERO
internal_repeat_1	294	332	8.47e-5	PROSPERO
low complexity region	333	343	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000212545

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with MIT-interacting motifs that interacts with components of endosomal sorting complexes required for transport (ESCRT). ESCRT functions in vesicle budding, such as that which occurs during membrane abscission in cytokinesis. There is a pseudogene for this gene on chromosome 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	T	A	12: 70,206,221 (GRCm39)	N67K	probably benign	Het
Amotl1	C	A	9: 14,556,216 (GRCm39)	E37*	probably null	Het
Ap4b1	C	A	3: 103,720,601 (GRCm39)	Y90*	probably null	Het
Apc	A	G	18: 34,431,480 (GRCm39)	E277G	possibly damaging	Het
Atl1	T	A	12: 69,972,813 (GRCm39)	H44Q	probably damaging	Het
Atp6v0b	G	A	4: 117,742,864 (GRCm39)	T74M	probably benign	Het
Auts2	T	C	5: 131,469,437 (GRCm39)	T627A	probably benign	Het
B4galnt4	T	A	7: 140,647,449 (GRCm39)	I372N	possibly damaging	Het
B4galt2	A	G	4: 117,731,148 (GRCm39)	S338P	probably damaging	Het
Cfap43	A	C	19: 47,773,717 (GRCm39)		probably null	Het
Col4a1	T	C	8: 11,362,538 (GRCm39)		probably benign	Het
Col7a1	A	C	9: 108,798,494 (GRCm39)	I1741L	possibly damaging	Het
Coprs	A	T	8: 13,935,750 (GRCm39)	S90T	probably benign	Het
Csrnp3	T	C	2: 65,779,408 (GRCm39)	V40A	possibly damaging	Het
Ephx1	C	A	1: 180,827,287 (GRCm39)		probably null	Het
Erich6	C	A	3: 58,526,220 (GRCm39)	R594L	probably benign	Het
F2rl2	A	T	13: 95,837,038 (GRCm39)	N28Y	probably damaging	Het
Fbxo38	A	T	18: 62,639,740 (GRCm39)	N1041K	possibly damaging	Het
Fcgr2b	C	T	1: 170,790,977 (GRCm39)		probably null	Het
Fsip2	T	A	2: 82,809,061 (GRCm39)	N1793K	probably damaging	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gcnt3	A	G	9: 69,942,169 (GRCm39)	I133T	probably damaging	Het
Gm57859	A	G	11: 113,578,818 (GRCm39)	D71G	probably benign	Het
Hoxa1	T	A	6: 52,135,021 (GRCm39)	I61F	probably damaging	Het
Impact	C	T	18: 13,115,169 (GRCm39)	L102F	probably damaging	Het
Kcnv2	T	A	19: 27,311,282 (GRCm39)	S550T	probably benign	Het
Krt1c	A	T	15: 101,726,314 (GRCm39)	S75T	unknown	Het
Krtap21-1	A	G	16: 89,200,466 (GRCm39)	S59P	unknown	Het
Lef1	A	T	3: 130,905,223 (GRCm39)	I35F	probably damaging	Het
Lpcat2	A	C	8: 93,599,707 (GRCm39)	N225T	probably damaging	Het
Lztfl1	A	T	9: 123,538,649 (GRCm39)	N142K	probably benign	Het
Mdh1b	G	A	1: 63,760,975 (GRCm39)	H88Y	probably benign	Het
Mettl26	A	G	17: 26,095,658 (GRCm39)	D171G	probably damaging	Het
Mrps24	A	T	11: 5,654,663 (GRCm39)	M97K	probably benign	Het
Ms4a14	A	T	19: 11,279,499 (GRCm39)	C1020S	probably benign	Het
Mterf1a	A	T	5: 3,940,854 (GRCm39)	I338K	probably benign	Het
Odad2	A	T	18: 7,294,479 (GRCm39)	Y45N	probably benign	Het
Or1e22	A	G	11: 73,377,299 (GRCm39)	I117T	probably benign	Het
Or4p20	T	C	2: 88,254,156 (GRCm39)	Y71C	possibly damaging	Het
Or52s1b	T	A	7: 102,822,442 (GRCm39)	H134L	probably damaging	Het
Or7g12	T	A	9: 18,899,689 (GRCm39)	I135N	probably damaging	Het
Paqr3	T	A	5: 97,256,146 (GRCm39)	H76L	probably damaging	Het
Parp1	T	A	1: 180,417,071 (GRCm39)	Y618*	probably null	Het
Pilrb2	C	T	5: 137,870,049 (GRCm39)		probably benign	Het
Pkm	A	G	9: 59,575,853 (GRCm39)	N90D	probably damaging	Het
Pla2g4c	T	G	7: 13,078,459 (GRCm39)		probably null	Het
Plppr4	C	T	3: 117,116,667 (GRCm39)	V339I	probably damaging	Het
Pnkp	T	A	7: 44,510,462 (GRCm39)	D304E	probably damaging	Het
Pnlip	T	C	19: 58,668,067 (GRCm39)		probably null	Het
Polr2a	A	G	11: 69,638,026 (GRCm39)	C148R	probably damaging	Het
Ppp1r10	G	A	17: 36,240,443 (GRCm39)	G578S	probably benign	Het
Ptges2	C	T	2: 32,287,683 (GRCm39)	T137I	possibly damaging	Het
Ptpre	T	C	7: 135,270,877 (GRCm39)	V344A	possibly damaging	Het
Rag1	A	G	2: 101,472,137 (GRCm39)	F1002L	probably damaging	Het
Rcn2	T	A	9: 55,960,298 (GRCm39)	Y188*	probably null	Het
Rest	A	G	5: 77,416,046 (GRCm39)	S87G	probably damaging	Het
Rgsl1	C	T	1: 153,675,568 (GRCm39)	D913N	probably damaging	Het
Scp2	A	G	4: 107,928,475 (GRCm39)	M1T	probably null	Het
Slamf8	T	A	1: 172,415,590 (GRCm39)	N83Y	probably damaging	Het
Slc26a11	T	A	11: 119,248,844 (GRCm39)	F75Y	possibly damaging	Het
Slc26a5	A	G	5: 22,045,570 (GRCm39)	S133P	probably damaging	Het
Sncb	A	T	13: 54,910,487 (GRCm39)	V83E	probably damaging	Het
Tmem243	A	G	5: 9,151,348 (GRCm39)	T11A	probably damaging	Het
Trim38	A	G	13: 23,973,502 (GRCm39)	N277D	probably benign	Het
Vmn1r189	C	T	13: 22,286,628 (GRCm39)	G70S	probably damaging	Het
Vmn2r-ps117	A	G	17: 19,058,495 (GRCm39)	R684G	probably benign	Het
Wdr59	T	C	8: 112,187,420 (GRCm39)	N792D	possibly damaging	Het
Wnt5a	A	G	14: 28,244,527 (GRCm39)	D238G	possibly damaging	Het
Zbtb42	C	A	12: 112,646,824 (GRCm39)	T333K	probably damaging	Het
Zfp119b	A	G	17: 56,245,564 (GRCm39)	S509P	probably benign	Het
Zfp365	T	A	10: 67,745,594 (GRCm39)	K61N	probably damaging	Het
Zfp553	T	C	7: 126,835,825 (GRCm39)	F460S	probably damaging	Het
Zfp788	C	T	7: 41,299,301 (GRCm39)	Q594*	probably null	Het
Zfp984	T	A	4: 147,845,707 (GRCm39)	M1L	possibly damaging	Het
Zmiz2	T	A	11: 6,347,566 (GRCm39)	Y291*	probably null	Het

Other mutations in Ist1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Ist1	APN	8	110,409,243 (GRCm39)	missense	probably damaging	0.99
IGL01888:Ist1	APN	8	110,410,400 (GRCm39)	utr 5 prime	probably benign
IGL02117:Ist1	APN	8	110,405,584 (GRCm39)	missense	probably damaging	1.00
IGL02240:Ist1	APN	8	110,408,836 (GRCm39)	splice site	probably benign
IGL02438:Ist1	APN	8	110,402,002 (GRCm39)	unclassified	probably benign
IGL02883:Ist1	APN	8	110,410,300 (GRCm39)	splice site	probably benign
R0008:Ist1	UTSW	8	110,403,418 (GRCm39)	missense	probably benign	0.04
R0008:Ist1	UTSW	8	110,403,418 (GRCm39)	missense	probably benign	0.04
R0165:Ist1	UTSW	8	110,401,998 (GRCm39)	unclassified	probably benign
R1835:Ist1	UTSW	8	110,405,515 (GRCm39)	missense	probably damaging	1.00
R7092:Ist1	UTSW	8	110,409,228 (GRCm39)	critical splice donor site	probably null
R7395:Ist1	UTSW	8	110,404,159 (GRCm39)	missense	probably benign
R8303:Ist1	UTSW	8	110,410,412 (GRCm39)	critical splice acceptor site	probably null
R9566:Ist1	UTSW	8	110,408,816 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACGTGCACACTTTCTTTATACACAC -3'
(R):5'- AGAGCTGTTGATGGCGTGAC -3'

Sequencing Primer
(F):5'- ACATACTTACTGGTCCCTTTGGCAG -3'
(R):5'- TCCTATTAACTAGGGATGTAGAAGC -3'

Posted On

2018-11-28