Mutagenetix > Incidental Mutations

Incidental Mutation 'R7851:Ism1'

606917

Institutional Source

Beutler Lab

Gene Symbol

Ism1

Ensembl Gene

ENSMUSG00000074766

Gene Name

isthmin 1, angiogenesis inhibitor

Synonyms

5430433G21Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.680) question?

Stock #

R7851 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139678178-139758581 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 139757265 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 386 (D386V)

Ref Sequence

ENSEMBL: ENSMUSP00000139280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099307] [ENSMUST00000184404]

AlphaFold

A2ATD1

Predicted Effect

probably damaging
Transcript: ENSMUST00000099307
AA Change: D379V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096910
Gene: ENSMUSG00000074766
AA Change: D379V

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	165	177	N/A	INTRINSIC
TSP1	210	252	3.69e-8	SMART
AMOP	279	442	5.38e-91	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000184404
AA Change: D386V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139280
Gene: ENSMUSG00000074766
AA Change: D386V

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	172	184	N/A	INTRINSIC
TSP1	217	259	3.69e-8	SMART
AMOP	286	449	5.38e-91	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	T	A	11: 101,410,012		probably null	Het
Abcc3	A	T	11: 94,359,660	L905*	probably null	Het
Adamts9	T	G	6: 92,908,706	D401A	probably damaging	Het
Ankmy1	T	C	1: 92,871,722	K918E	probably damaging	Het
Arfgef3	T	C	10: 18,592,286	N1722S	probably damaging	Het
Arhgef18	A	G	8: 3,448,409	I481V	possibly damaging	Het
Asxl3	T	C	18: 22,517,222	I756T	possibly damaging	Het
Atp6v0b	A	G	4: 117,885,865	F49S	probably damaging	Het
Baz2b	C	A	2: 59,936,716	E107D	probably damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,099,982		probably benign	Het
Cd2ap	A	G	17: 42,824,472		probably null	Het
Cnn3	T	A	3: 121,457,343	Y304N	possibly damaging	Het
Cnot2	G	A	10: 116,537,432	S22L	possibly damaging	Het
Coq6	A	T	12: 84,372,155	H311L	possibly damaging	Het
Csf2rb2	T	C	15: 78,288,937	N350S	probably benign	Het
Dhrs9	T	A	2: 69,401,256	N253K	probably benign	Het
Dok7	T	A	5: 35,056,936	M1K	probably null	Het
Eogt	T	A	6: 97,120,201	E313D	probably benign	Het
Etl4	T	C	2: 20,744,140	S430P	probably damaging	Het
Gfod2	T	A	8: 105,728,130	E39D	probably benign	Het
Gfral	T	C	9: 76,205,455	N65D	probably benign	Het
Gsdmc4	A	T	15: 63,902,746	L62*	probably null	Het
Gyg	T	G	3: 20,122,747	M360L	probably benign	Het
Hsp90ab1	A	T	17: 45,570,452	S255T	probably benign	Het
Hyal6	T	A	6: 24,734,498	D143E	probably benign	Het
Ipp	C	T	4: 116,515,475	Q234*	probably null	Het
Jrkl	T	C	9: 13,244,349	T436A	probably benign	Het
Mup3	A	C	4: 62,085,257	I125S	possibly damaging	Het
Myh6	T	A	14: 54,953,051	E1003V	possibly damaging	Het
Neb	T	A	2: 52,153,064	I6785F	probably benign	Het
Olfr225	T	C	11: 59,613,963	V333A	probably benign	Het
Olfr350	T	A	2: 36,850,416	Y123*	probably null	Het
Olfr739	A	G	14: 50,425,370	T284A	probably damaging	Het
Olfr747	A	G	14: 50,681,458	Y59H	probably damaging	Het
Olfr787	G	T	10: 129,463,560	V295L	probably benign	Het
Pamr1	A	T	2: 102,586,600	T86S	probably benign	Het
Pced1a	A	T	2: 130,422,316	M168K	probably damaging	Het
Pigs	T	C	11: 78,336,787	L259P	probably damaging	Het
Plch1	T	C	3: 63,698,434	S1350G	probably damaging	Het
Prickle1	G	A	15: 93,500,559	T796I	possibly damaging	Het
Ptcd3	T	C	6: 71,902,859	I138M	probably damaging	Het
Ptprs	T	C	17: 56,425,482	E958G	probably benign	Het
Rcn3	A	T	7: 45,086,812	D157E	probably benign	Het
Rft1	T	C	14: 30,690,583	S534P	probably benign	Het
Ryr3	T	C	2: 112,678,517	T3371A	probably benign	Het
Scn10a	A	T	9: 119,617,762	V1399D	probably damaging	Het
Sec61a1	T	C	6: 88,512,165	T185A	probably benign	Het
Sgsm3	G	A	15: 81,010,753	V607M	probably damaging	Het
Smurf2	T	C	11: 106,830,926	Y581C	probably damaging	Het
Snx8	C	A	5: 140,358,159	V101L	probably damaging	Het
Sp100	A	T	1: 85,706,926	K180M	probably benign	Het
Spire2	T	A	8: 123,356,699		probably null	Het
St6galnac2	A	G	11: 116,685,938	S86P	probably benign	Het
Sybu	G	A	15: 44,746,456	Q139*	probably null	Het
Tas2r114	T	A	6: 131,689,925	I47F	probably damaging	Het
Tcf21	T	C	10: 22,819,848	D19G	probably benign	Het
Terb2	T	C	2: 122,186,313	F9L	probably damaging	Het
Tlr1	T	C	5: 64,924,964	T757A	possibly damaging	Het
Tmco1	C	T	1: 167,308,686		probably benign	Het
Tshz3	T	C	7: 36,771,589	F1001S	probably damaging	Het
Ttc25	C	T	11: 100,545,829	T10I	probably damaging	Het
Vmn2r62	G	A	7: 42,789,115	T99I	probably benign	Het
Wdr7	A	T	18: 63,720,327	T33S	probably benign	Het

Other mutations in Ism1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Ism1	APN	2	139757303	missense	probably damaging	1.00
IGL02496:Ism1	APN	2	139757201	missense	probably damaging	1.00
IGL03349:Ism1	APN	2	139731975	nonsense	probably null
R0212:Ism1	UTSW	2	139740257	missense	probably benign	0.00
R0312:Ism1	UTSW	2	139678672	start codon destroyed	probably null	0.88
R1355:Ism1	UTSW	2	139732074	missense	possibly damaging	0.93
R1370:Ism1	UTSW	2	139732074	missense	possibly damaging	0.93
R1775:Ism1	UTSW	2	139746043	missense	probably damaging	1.00
R1992:Ism1	UTSW	2	139746017	missense	probably benign	0.01
R2021:Ism1	UTSW	2	139740127	splice site	probably null
R2035:Ism1	UTSW	2	139757155	missense	probably damaging	1.00
R2270:Ism1	UTSW	2	139757373	missense	probably damaging	1.00
R2271:Ism1	UTSW	2	139757373	missense	probably damaging	1.00
R3722:Ism1	UTSW	2	139732011	nonsense	probably null
R3792:Ism1	UTSW	2	139740253	missense	probably damaging	0.99
R4907:Ism1	UTSW	2	139678752	missense	probably benign	0.27
R5621:Ism1	UTSW	2	139678721	missense	probably damaging	0.99
R5964:Ism1	UTSW	2	139678757	missense	probably benign
R6255:Ism1	UTSW	2	139746042	small deletion	probably benign
R7009:Ism1	UTSW	2	139757279	missense	probably damaging	1.00
R7325:Ism1	UTSW	2	139757043	missense	probably damaging	1.00
R8851:Ism1	UTSW	2	139749545	missense	probably damaging	1.00
R8958:Ism1	UTSW	2	139732075	missense	possibly damaging	0.93
R9365:Ism1	UTSW	2	139740401	missense	probably damaging	1.00
Z1176:Ism1	UTSW	2	139731874	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACAAGGTGATCAACGACCTGC -3'
(R):5'- AAGGGCTCTCTGTGCACTTC -3'

Sequencing Primer
(F):5'- TACCCTACTGAGGTGGCCTACAG -3'
(R):5'- CACTTCTGTCCGTTATTGGGAG -3'

Posted On

2019-12-20