Mutagenetix > Incidental Mutation

Incidental Mutation 'R0328:Itpripl1'

25829

Institutional Source

Beutler Lab

Gene Symbol

Itpripl1

Ensembl Gene

ENSMUSG00000074825

Gene Name

inositol 1,4,5-triphosphate receptor interacting protein-like 1

Synonyms

1700041B20Rik

MMRRC Submission

038537-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R0328 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126980692-126985362 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126983924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 66 (N66S)

Ref Sequence

ENSEMBL: ENSMUSP00000118487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110386] [ENSMUST00000132773] [ENSMUST00000154021]

AlphaFold

A2ASA8

Predicted Effect

probably benign
Transcript: ENSMUST00000110386
AA Change: N66S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000106016
Gene: ENSMUSG00000074825
AA Change: N66S

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
coiled coil region	32	66	N/A	INTRINSIC
low complexity region	131	140	N/A	INTRINSIC
Mab-21	214	533	1.66e-66	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132773
AA Change: N66S

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118487
Gene: ENSMUSG00000074825
AA Change: N66S

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
coiled coil region	32	66	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154021
AA Change: N66S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000122289
Gene: ENSMUSG00000074825
AA Change: N66S

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
coiled coil region	32	66	N/A	INTRINSIC
low complexity region	131	140	N/A	INTRINSIC
Mab-21	214	533	1.66e-66	SMART

Meta Mutation Damage Score

0.0701

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.5%
20x: 90.8%

Validation Efficiency

96% (46/48)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,574,624 (GRCm39)	H618L	possibly damaging	Het
Aacs	T	C	5: 125,593,323 (GRCm39)	V642A	probably benign	Het
Alms1	A	G	6: 85,587,796 (GRCm39)		probably null	Het
Arhgap39	A	G	15: 76,636,152 (GRCm39)		probably benign	Het
Bard1	C	T	1: 71,085,921 (GRCm39)	V595I	probably benign	Het
Bptf	T	C	11: 106,937,953 (GRCm39)	K2713E	probably damaging	Het
Calhm1	C	T	19: 47,129,742 (GRCm39)	G260D	possibly damaging	Het
Ccdc154	A	C	17: 25,390,779 (GRCm39)	K643T	probably benign	Het
Ccl4	T	A	11: 83,554,383 (GRCm39)	S59T	probably damaging	Het
Cntd1	T	C	11: 101,174,259 (GRCm39)	S73P	probably benign	Het
Colgalt2	A	T	1: 152,348,859 (GRCm39)	D168V	probably damaging	Het
Fam117a	T	C	11: 95,266,452 (GRCm39)		probably benign	Het
Fat1	A	G	8: 45,476,827 (GRCm39)	T1935A	probably benign	Het
Fbxw21	T	A	9: 108,975,653 (GRCm39)	I248F	possibly damaging	Het
Fhod3	A	T	18: 25,246,657 (GRCm39)	M1288L	probably benign	Het
Gm5114	T	G	7: 39,057,885 (GRCm39)	K578T	probably damaging	Het
Gxylt2	A	T	6: 100,727,496 (GRCm39)		probably benign	Het
Helz	G	T	11: 107,495,174 (GRCm39)	A383S	probably benign	Het
Ift172	C	A	5: 31,421,195 (GRCm39)	E968*	probably null	Het
Kcnma1	A	G	14: 23,423,265 (GRCm39)	Y686H	probably damaging	Het
Ndrg1	C	A	15: 66,815,008 (GRCm39)		probably benign	Het
Ogdh	T	C	11: 6,297,216 (GRCm39)	V545A	probably benign	Het
Or10al5	A	G	17: 38,063,284 (GRCm39)	I180V	possibly damaging	Het
P3h3	G	A	6: 124,831,269 (GRCm39)		probably benign	Het
Ppme1	A	T	7: 99,983,182 (GRCm39)		probably null	Het
Prkag1	T	G	15: 98,713,563 (GRCm39)	D44A	probably damaging	Het
Prpf39	T	C	12: 65,090,145 (GRCm39)		probably benign	Het
Rabep1	C	A	11: 70,810,033 (GRCm39)	R489S	probably damaging	Het
Scn10a	A	G	9: 119,523,168 (GRCm39)	V75A	possibly damaging	Het
Sema3d	T	C	5: 12,498,042 (GRCm39)	L16P	possibly damaging	Het
Skida1	T	C	2: 18,051,997 (GRCm39)		probably benign	Het
Sptbn4	T	C	7: 27,063,595 (GRCm39)	Y2277C	probably damaging	Het
Syne1	A	G	10: 5,298,945 (GRCm39)	I1047T	possibly damaging	Het
Syt17	A	G	7: 117,981,216 (GRCm39)	Y369H	probably benign	Het
Tmem131l	C	T	3: 83,829,238 (GRCm39)		probably benign	Het
Traf3ip2	A	T	10: 39,510,669 (GRCm39)	D314V	probably damaging	Het
Ttc28	T	G	5: 111,431,933 (GRCm39)		probably benign	Het
Ush1c	A	C	7: 45,874,872 (GRCm39)		probably benign	Het
Utp20	A	T	10: 88,602,969 (GRCm39)	Y1884N	possibly damaging	Het
Vmn2r112	T	A	17: 22,824,251 (GRCm39)	I502K	probably benign	Het
Vmn2r60	T	C	7: 41,791,744 (GRCm39)		probably benign	Het
Vmn2r63	T	C	7: 42,552,699 (GRCm39)	I852M	probably benign	Het
Vmn2r9	T	A	5: 108,995,405 (GRCm39)	E414D	probably benign	Het
Wnt4	A	G	4: 137,022,754 (GRCm39)	T106A	probably damaging	Het
Zbtb26	A	T	2: 37,326,807 (GRCm39)	N76K	possibly damaging	Het
Zfhx2	T	C	14: 55,309,445 (GRCm39)	T885A	probably benign	Het

Other mutations in Itpripl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02444:Itpripl1	APN	2	126,983,621 (GRCm39)	missense	possibly damaging	0.87
IGL02978:Itpripl1	APN	2	126,982,932 (GRCm39)	missense	probably damaging	1.00
R0579:Itpripl1	UTSW	2	126,983,011 (GRCm39)	nonsense	probably null
R1178:Itpripl1	UTSW	2	126,983,819 (GRCm39)	missense	probably benign	0.05
R1623:Itpripl1	UTSW	2	126,983,555 (GRCm39)	missense	possibly damaging	0.78
R1956:Itpripl1	UTSW	2	126,983,927 (GRCm39)	missense	probably damaging	0.98
R2877:Itpripl1	UTSW	2	126,983,534 (GRCm39)	missense	probably benign	0.00
R2878:Itpripl1	UTSW	2	126,983,534 (GRCm39)	missense	probably benign	0.00
R4949:Itpripl1	UTSW	2	126,983,327 (GRCm39)	missense	probably benign	0.13
R5161:Itpripl1	UTSW	2	126,983,777 (GRCm39)	missense	probably damaging	1.00
R5236:Itpripl1	UTSW	2	126,983,770 (GRCm39)	missense	probably damaging	1.00
R5364:Itpripl1	UTSW	2	126,983,739 (GRCm39)	missense	possibly damaging	0.60
R5637:Itpripl1	UTSW	2	126,984,044 (GRCm39)	missense	probably damaging	1.00
R5715:Itpripl1	UTSW	2	126,983,927 (GRCm39)	missense	probably damaging	0.98
R7545:Itpripl1	UTSW	2	126,983,581 (GRCm39)	nonsense	probably null
R8409:Itpripl1	UTSW	2	126,982,686 (GRCm39)	missense	probably benign	0.44
R8708:Itpripl1	UTSW	2	126,983,262 (GRCm39)	missense	probably benign
R9321:Itpripl1	UTSW	2	126,984,000 (GRCm39)	missense	probably benign	0.03
R9452:Itpripl1	UTSW	2	126,983,334 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTCCCCACTTCTCAAAGGCAGC -3'
(R):5'- AGCCTCATGTTCTTGGCAGTGATG -3'

Sequencing Primer
(F):5'- TAAAAGGCTTCCAGGGCTTC -3'
(R):5'- GATGTATGTTGTTCACCACCC -3'

Posted On

2013-04-16