Mutagenetix > Incidental Mutation

Incidental Mutation 'R9266:Insm1'

702519

Institutional Source

Beutler Lab

Gene Symbol

Insm1

Ensembl Gene

ENSMUSG00000068154

Gene Name

insulinoma-associated 1

Synonyms

IA-1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9266 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

146064021-146066940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 146064933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 250 (I250F)

Ref Sequence

ENSEMBL: ENSMUSP00000092048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089257]

AlphaFold

Q63ZV0

Predicted Effect

probably damaging
Transcript: ENSMUST00000089257
AA Change: I250F

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

SMART Domains

Protein: ENSMUSP00000092048
Gene: ENSMUSG00000068154
AA Change: I250F

Domain	Start	End	E-Value	Type
low complexity region	41	88	N/A	INTRINSIC
low complexity region	137	164	N/A	INTRINSIC
low complexity region	190	230	N/A	INTRINSIC
ZnF_C2H2	272	292	1.49e2	SMART
ZnF_C2H2	300	322	3.78e-1	SMART
low complexity region	324	348	N/A	INTRINSIC
low complexity region	358	371	N/A	INTRINSIC
ZnF_C2H2	373	395	4.4e-2	SMART
ZnF_C2H2	452	475	2.09e-3	SMART
ZnF_C2H2	480	503	1.18e-2	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Insulinoma-associated 1 (INSM1) gene is intronless and encodes a protein containing both a zinc finger DNA-binding domain and a putative prohormone domain. This gene is a sensitive marker for neuroendocrine differentiation of human lung tumors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display perinatal and neonatal lethality, respiratory failure, and impaired pancreatic and intestinal endocrine cell development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	C	A	17: 36,270,178 (GRCm39)	E627*	probably null	Het
Aoc1l2	A	G	6: 48,907,171 (GRCm39)	N57S	probably benign	Het
Arhgap42	A	G	9: 9,006,386 (GRCm39)	V670A	probably benign	Het
Arhgef16	C	A	4: 154,375,922 (GRCm39)	R24L	probably benign	Het
Atad2	A	T	15: 57,985,967 (GRCm39)	D251E	probably benign	Het
Atf2	T	C	2: 73,649,271 (GRCm39)	S447G	probably benign	Het
Atp8b1	T	C	18: 64,704,108 (GRCm39)	M337V	probably benign	Het
Atp8b1	C	T	18: 64,710,528 (GRCm39)	D170N	possibly damaging	Het
Azin2	C	A	4: 128,856,230 (GRCm39)		probably benign	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Cdh19	A	G	1: 110,817,771 (GRCm39)	L657P	probably damaging	Het
Crybg3	A	T	16: 59,372,544 (GRCm39)	V598E	probably damaging	Het
Cwc22	A	G	2: 77,754,952 (GRCm39)	I208T	probably benign	Het
Cyp4a32	T	A	4: 115,468,307 (GRCm39)	D292E	probably damaging	Het
Dnah10	G	A	5: 124,845,990 (GRCm39)	V1510I	probably benign	Het
Dpp3	G	T	19: 4,964,686 (GRCm39)	Y540*	probably null	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Elf1	A	G	14: 79,798,290 (GRCm39)	D59G	probably benign	Het
Epc1	A	T	18: 6,449,219 (GRCm39)	M476K	probably benign	Het
Espnl	C	A	1: 91,272,771 (GRCm39)	S710R	probably benign	Het
Fam171b	T	C	2: 83,683,926 (GRCm39)	W148R	probably damaging	Het
Fhod1	A	G	8: 106,065,531 (GRCm39)	L88P	unknown	Het
Frmd4a	A	G	2: 4,610,846 (GRCm39)	S999G	probably damaging	Het
Glmp	T	C	3: 88,233,036 (GRCm39)	I58T	probably damaging	Het
Gm45861	T	A	8: 28,074,674 (GRCm39)	D1341E	unknown	Het
Gpr179	A	G	11: 97,227,766 (GRCm39)	I1463T	probably benign	Het
Gsdmc2	T	C	15: 63,698,088 (GRCm39)	E339G	probably damaging	Het
Itih1	A	T	14: 30,652,222 (GRCm39)	S824T	probably damaging	Het
Lactb	A	G	9: 66,878,499 (GRCm39)	Y190H	possibly damaging	Het
Lrba	T	C	3: 86,198,774 (GRCm39)	M197T	probably benign	Het
Lrrc4c	A	G	2: 97,459,853 (GRCm39)	I160V	probably benign	Het
Lrrc59	A	T	11: 94,532,044 (GRCm39)		probably null	Het
Ltk	A	T	2: 119,585,121 (GRCm39)	M425K	possibly damaging	Het
Map9	T	C	3: 82,278,594 (GRCm39)	V198A	possibly damaging	Het
Mms22l	T	C	4: 24,578,878 (GRCm39)	Y746H	probably damaging	Het
Ms4a4b	A	G	19: 11,432,060 (GRCm39)	I60M	probably benign	Het
Mtif2	T	C	11: 29,480,065 (GRCm39)	W44R	probably benign	Het
Nadsyn1	A	T	7: 143,369,348 (GRCm39)	W128R	probably damaging	Het
Nrcam	G	A	12: 44,636,917 (GRCm39)	A1117T	probably damaging	Het
Ntng1	G	A	3: 110,050,923 (GRCm39)		probably benign	Het
Ntng1	A	G	3: 110,051,162 (GRCm39)	F56L	unknown	Het
Oas2	A	T	5: 120,887,637 (GRCm39)	Y68N	probably damaging	Het
Or4c119	A	T	2: 88,986,854 (GRCm39)	F222I	possibly damaging	Het
Or5b101	A	C	19: 13,005,648 (GRCm39)	L15R	probably damaging	Het
Or6c6c	T	C	10: 129,541,547 (GRCm39)	S267P	probably benign	Het
Pals2	T	C	6: 50,140,463 (GRCm39)	M161T	probably benign	Het
Paqr8	C	T	1: 21,005,863 (GRCm39)	T339I	probably benign	Het
Pcdhga10	A	G	18: 37,881,814 (GRCm39)	E525G	probably benign	Het
Psg28	T	G	7: 18,161,752 (GRCm39)	L250F	probably benign	Het
S100a13	G	T	3: 90,423,170 (GRCm39)	D54Y	unknown	Het
Slc16a4	A	T	3: 107,199,788 (GRCm39)	T12S	probably benign	Het
Slc9b1	A	G	3: 135,054,468 (GRCm39)		probably benign	Het
Slit3	T	C	11: 35,598,808 (GRCm39)	S1471P	probably damaging	Het
Smpdl3a	T	C	10: 57,678,596 (GRCm39)	V133A	possibly damaging	Het
Snap23	C	T	2: 120,414,781 (GRCm39)		probably benign	Het
Spp2	A	G	1: 88,344,975 (GRCm39)	M146V	probably benign	Het
Syf2	C	A	4: 134,663,321 (GRCm39)	N164K	possibly damaging	Het
Sync	T	G	4: 129,187,179 (GRCm39)	Y70*	probably null	Het
Tex56	A	G	13: 35,116,569 (GRCm39)	K106R	possibly damaging	Het
Tmigd3	T	C	3: 105,824,216 (GRCm39)	F62L	probably benign	Het
Trpa1	C	T	1: 14,980,953 (GRCm39)		probably null	Het
U2surp	A	T	9: 95,366,468 (GRCm39)	I480N	probably damaging	Het
Usf3	C	T	16: 44,040,095 (GRCm39)	T1525I	probably damaging	Het
Vmn2r2	T	C	3: 64,024,057 (GRCm39)	I841M	probably damaging	Het
Zfp335	T	A	2: 164,738,007 (GRCm39)	Q868L	probably benign	Het
Zscan10	A	G	17: 23,828,385 (GRCm39)	E309G	possibly damaging	Het

Other mutations in Insm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4276:Insm1	UTSW	2	146,064,888 (GRCm39)	missense	probably benign	0.02
R4737:Insm1	UTSW	2	146,064,822 (GRCm39)	missense	probably benign
R6766:Insm1	UTSW	2	146,065,346 (GRCm39)	nonsense	probably null
R7237:Insm1	UTSW	2	146,064,448 (GRCm39)	missense	possibly damaging	0.79
R7408:Insm1	UTSW	2	146,064,711 (GRCm39)	missense	probably benign	0.01
R7486:Insm1	UTSW	2	146,065,738 (GRCm39)	missense	probably damaging	1.00
R7634:Insm1	UTSW	2	146,065,027 (GRCm39)	missense	probably damaging	1.00
R8801:Insm1	UTSW	2	146,065,346 (GRCm39)	nonsense	probably null
R9266:Insm1	UTSW	2	146,064,943 (GRCm39)	missense	possibly damaging	0.70
R9290:Insm1	UTSW	2	146,065,273 (GRCm39)	missense	probably benign	0.02
Z1176:Insm1	UTSW	2	146,065,476 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCAAGATGGGCACTGCGTTC -3'
(R):5'- AACTTCTTGGCGCAGTGGTG -3'

Sequencing Primer
(F):5'- GACCGGTCCTCCACTGTC -3'
(R):5'- TCGGAGCCTGACTCGGATAC -3'

Posted On

2022-03-25