Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01941:Itprid1'

181155

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itprid1

Ensembl Gene

ENSMUSG00000037973

Gene Name

ITPR interacting domain containing 1

Synonyms

D530004J12Rik, Ccdc129

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01941

Quality Score

Status

Chromosome

Chromosomal Location

55813880-55955720 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55945030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 584 (R584G)

Ref Sequence

ENSEMBL: ENSMUSP00000045332 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044729]

AlphaFold

Q14B48

Predicted Effect

probably benign
Transcript: ENSMUST00000044729
AA Change: R584G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
AA Change: R584G

Domain	Start	End	E-Value	Type
KRAP_IP3R_bind	112	264	2.99e-82	SMART
low complexity region	326	334	N/A	INTRINSIC
low complexity region	432	442	N/A	INTRINSIC
low complexity region	477	496	N/A	INTRINSIC
low complexity region	498	511	N/A	INTRINSIC
low complexity region	781	789	N/A	INTRINSIC
Pfam:SSFA2_C	806	916	3e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169699

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624G23Rik	A	T	12: 24,094,802 (GRCm39)	L123Q	probably benign	Het
Abca2	C	T	2: 25,333,107 (GRCm39)	S1602F	probably benign	Het
Abcc9	C	A	6: 142,551,630 (GRCm39)	C1191F	probably damaging	Het
Adam3	G	T	8: 25,171,462 (GRCm39)		probably benign	Het
Aldh1l1	G	T	6: 90,539,677 (GRCm39)	G202V	probably damaging	Het
Ankrd46	T	C	15: 36,486,083 (GRCm39)	N57D	possibly damaging	Het
Asic1	A	T	15: 99,596,982 (GRCm39)	H548L	possibly damaging	Het
Atpaf2	A	G	11: 60,294,724 (GRCm39)	I233T	probably benign	Het
Ccdc185	G	T	1: 182,575,769 (GRCm39)	Q307K	probably benign	Het
Cep120	T	C	18: 53,856,220 (GRCm39)	D399G	probably benign	Het
Cnn2	G	A	10: 79,828,388 (GRCm39)	V122M	probably benign	Het
Dgkd	T	C	1: 87,852,281 (GRCm39)	S472P	probably damaging	Het
Dock5	A	C	14: 68,049,681 (GRCm39)	I701S	probably damaging	Het
Efl1	A	G	7: 82,347,184 (GRCm39)	E570G	probably benign	Het
Eln	G	A	5: 134,747,024 (GRCm39)		probably benign	Het
Fat2	A	G	11: 55,202,831 (GRCm39)	V81A	probably benign	Het
Fbxw21	T	G	9: 108,977,224 (GRCm39)	I162L	probably benign	Het
Fhl2	G	A	1: 43,170,832 (GRCm39)	Q161*	probably null	Het
Gabrg2	A	G	11: 41,862,548 (GRCm39)	Y179H	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Grik5	A	T	7: 24,764,607 (GRCm39)	I152N	probably damaging	Het
H2-Ab1	A	T	17: 34,486,408 (GRCm39)	K156*	probably null	Het
Hecw1	T	C	13: 14,490,895 (GRCm39)	Y699C	probably benign	Het
Ipo9	A	C	1: 135,335,811 (GRCm39)	V202G	possibly damaging	Het
Jmjd6	A	T	11: 116,732,184 (GRCm39)		probably null	Het
Lama5	A	G	2: 179,834,185 (GRCm39)	I1416T	possibly damaging	Het
Matn1	T	C	4: 130,679,572 (GRCm39)		probably benign	Het
Mavs	T	C	2: 131,088,525 (GRCm39)	V443A	probably damaging	Het
Mpdz	A	T	4: 81,204,624 (GRCm39)	S1798R	possibly damaging	Het
Muc6	A	C	7: 141,218,497 (GRCm39)	S2059A	probably benign	Het
Or4a78	A	T	2: 89,497,812 (GRCm39)	C139*	probably null	Het
Otud7b	G	T	3: 96,062,776 (GRCm39)	G672C	probably benign	Het
Palld	T	A	8: 61,988,734 (GRCm39)	T572S	probably benign	Het
Pde6b	T	A	5: 108,570,902 (GRCm39)	V379E	probably benign	Het
Peak1	A	G	9: 56,166,059 (GRCm39)	V623A	probably damaging	Het
Prr12	C	T	7: 44,698,083 (GRCm39)		probably benign	Het
Rxra	T	C	2: 27,644,253 (GRCm39)	I315T	probably damaging	Het
Slc11a1	C	T	1: 74,416,338 (GRCm39)	A55V	probably damaging	Het
Slitrk3	T	C	3: 72,958,404 (GRCm39)	N123D	possibly damaging	Het
Smr2l	A	G	5: 88,430,301 (GRCm39)	S66G	probably benign	Het
Spcs1	A	G	14: 30,722,829 (GRCm39)	M82T	probably damaging	Het
Sspo	A	G	6: 48,472,116 (GRCm39)	E113G	probably benign	Het
Syne2	A	G	12: 76,013,994 (GRCm39)	K3062E	probably benign	Het
Traf3ip2	T	C	10: 39,510,656 (GRCm39)	S310P	probably benign	Het
Ubp1	T	C	9: 113,785,826 (GRCm39)	L167S	probably damaging	Het
Vmn1r196	T	A	13: 22,477,869 (GRCm39)	C169*	probably null	Het
Vmn1r223	T	A	13: 23,434,407 (GRCm39)	F334I	possibly damaging	Het
Vmn2r10	A	T	5: 109,143,820 (GRCm39)	I710N	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wdr26	A	G	1: 181,038,635 (GRCm39)		probably benign	Het
Wnt7a	A	G	6: 91,371,645 (GRCm39)	F106L	probably benign	Het
Zfp940	C	T	7: 29,546,295 (GRCm39)	V34M	probably damaging	Het

Other mutations in Itprid1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Itprid1	APN	6	55,945,022 (GRCm39)	missense	possibly damaging	0.90
IGL01317:Itprid1	APN	6	55,944,790 (GRCm39)	missense	possibly damaging	0.77
IGL01390:Itprid1	APN	6	55,874,983 (GRCm39)	missense	probably benign	0.41
IGL01696:Itprid1	APN	6	55,874,680 (GRCm39)	missense	probably benign	0.40
IGL01967:Itprid1	APN	6	55,874,896 (GRCm39)	missense	probably damaging	0.99
IGL02071:Itprid1	APN	6	55,944,710 (GRCm39)	nonsense	probably null
IGL02232:Itprid1	APN	6	55,944,922 (GRCm39)	missense	unknown
IGL02268:Itprid1	APN	6	55,861,673 (GRCm39)	splice site	probably benign
IGL02440:Itprid1	APN	6	55,861,713 (GRCm39)	missense	possibly damaging	0.95
IGL02614:Itprid1	APN	6	55,945,262 (GRCm39)	missense	probably damaging	0.99
IGL02626:Itprid1	APN	6	55,945,631 (GRCm39)	missense	probably benign	0.03
IGL02674:Itprid1	APN	6	55,874,913 (GRCm39)	missense	probably benign	0.04
IGL02836:Itprid1	APN	6	55,875,075 (GRCm39)	missense	probably damaging	1.00
IGL02884:Itprid1	APN	6	55,851,339 (GRCm39)	splice site	probably null
IGL02889:Itprid1	APN	6	55,878,443 (GRCm39)	missense	possibly damaging	0.46
IGL03103:Itprid1	APN	6	55,945,144 (GRCm39)	missense	possibly damaging	0.59
IGL03117:Itprid1	APN	6	55,875,114 (GRCm39)	missense	probably benign	0.25
IGL03343:Itprid1	APN	6	55,945,569 (GRCm39)	missense	probably damaging	1.00
BB006:Itprid1	UTSW	6	55,874,946 (GRCm39)	missense	probably damaging	1.00
BB016:Itprid1	UTSW	6	55,874,946 (GRCm39)	missense	probably damaging	1.00
PIT4418001:Itprid1	UTSW	6	55,945,330 (GRCm39)	missense	probably damaging	1.00
R0054:Itprid1	UTSW	6	55,849,457 (GRCm39)	utr 5 prime	probably benign
R0200:Itprid1	UTSW	6	55,874,941 (GRCm39)	missense	probably benign	0.10
R0245:Itprid1	UTSW	6	55,874,992 (GRCm39)	missense	probably damaging	1.00
R0320:Itprid1	UTSW	6	55,953,432 (GRCm39)	missense	probably damaging	1.00
R0326:Itprid1	UTSW	6	55,875,228 (GRCm39)	missense	possibly damaging	0.61
R0357:Itprid1	UTSW	6	55,945,019 (GRCm39)	missense	probably benign	0.13
R1109:Itprid1	UTSW	6	55,945,245 (GRCm39)	missense	probably damaging	1.00
R1118:Itprid1	UTSW	6	55,866,155 (GRCm39)	missense	probably damaging	1.00
R1119:Itprid1	UTSW	6	55,866,155 (GRCm39)	missense	probably damaging	1.00
R1462:Itprid1	UTSW	6	55,952,649 (GRCm39)	missense	probably damaging	1.00
R1462:Itprid1	UTSW	6	55,952,649 (GRCm39)	missense	probably damaging	1.00
R1588:Itprid1	UTSW	6	55,955,488 (GRCm39)	missense	possibly damaging	0.72
R1678:Itprid1	UTSW	6	55,945,499 (GRCm39)	missense	probably benign	0.35
R1680:Itprid1	UTSW	6	55,945,751 (GRCm39)	missense	probably damaging	1.00
R1728:Itprid1	UTSW	6	55,945,526 (GRCm39)	missense	probably benign	0.01
R1729:Itprid1	UTSW	6	55,945,526 (GRCm39)	missense	probably benign	0.01
R1737:Itprid1	UTSW	6	55,945,289 (GRCm39)	missense	probably damaging	1.00
R1771:Itprid1	UTSW	6	55,875,132 (GRCm39)	missense	probably benign	0.40
R1784:Itprid1	UTSW	6	55,945,526 (GRCm39)	missense	probably benign	0.01
R1936:Itprid1	UTSW	6	55,874,666 (GRCm39)	missense	probably damaging	1.00
R1995:Itprid1	UTSW	6	55,945,694 (GRCm39)	missense	probably benign	0.03
R2037:Itprid1	UTSW	6	55,874,860 (GRCm39)	missense	probably benign	0.00
R2137:Itprid1	UTSW	6	55,866,174 (GRCm39)	missense	probably damaging	1.00
R2190:Itprid1	UTSW	6	55,874,685 (GRCm39)	missense	possibly damaging	0.87
R2191:Itprid1	UTSW	6	55,944,704 (GRCm39)	missense	probably benign	0.06
R2234:Itprid1	UTSW	6	55,874,797 (GRCm39)	missense	possibly damaging	0.67
R2235:Itprid1	UTSW	6	55,874,797 (GRCm39)	missense	possibly damaging	0.67
R3793:Itprid1	UTSW	6	55,952,588 (GRCm39)	missense	possibly damaging	0.80
R3923:Itprid1	UTSW	6	55,945,045 (GRCm39)	missense	probably benign	0.19
R3959:Itprid1	UTSW	6	55,874,725 (GRCm39)	missense	probably benign
R4332:Itprid1	UTSW	6	55,945,220 (GRCm39)	missense	possibly damaging	0.95
R4485:Itprid1	UTSW	6	55,864,051 (GRCm39)	missense	probably benign	0.00
R4688:Itprid1	UTSW	6	55,944,132 (GRCm39)	splice site	probably null
R4916:Itprid1	UTSW	6	55,955,175 (GRCm39)	missense	possibly damaging	0.77
R5201:Itprid1	UTSW	6	55,944,991 (GRCm39)	missense	probably benign	0.03
R5383:Itprid1	UTSW	6	55,955,275 (GRCm39)	missense	probably benign	0.38
R5450:Itprid1	UTSW	6	55,945,796 (GRCm39)	critical splice donor site	probably null
R5542:Itprid1	UTSW	6	55,955,380 (GRCm39)	missense	probably damaging	0.99
R5819:Itprid1	UTSW	6	55,874,876 (GRCm39)	missense	probably benign	0.18
R5935:Itprid1	UTSW	6	55,874,754 (GRCm39)	nonsense	probably null
R6034:Itprid1	UTSW	6	55,944,666 (GRCm39)	missense	possibly damaging	0.94
R6034:Itprid1	UTSW	6	55,944,666 (GRCm39)	missense	possibly damaging	0.94
R6209:Itprid1	UTSW	6	55,851,306 (GRCm39)	missense	probably damaging	1.00
R6246:Itprid1	UTSW	6	55,944,657 (GRCm39)	missense	probably damaging	1.00
R6463:Itprid1	UTSW	6	55,945,663 (GRCm39)	missense	probably benign	0.17
R6490:Itprid1	UTSW	6	55,953,405 (GRCm39)	missense	probably damaging	1.00
R6948:Itprid1	UTSW	6	55,955,470 (GRCm39)	missense	probably benign
R7148:Itprid1	UTSW	6	55,874,671 (GRCm39)	missense	probably damaging	1.00
R7382:Itprid1	UTSW	6	55,955,404 (GRCm39)	missense	probably benign	0.02
R7403:Itprid1	UTSW	6	55,953,399 (GRCm39)	nonsense	probably null
R7846:Itprid1	UTSW	6	55,955,320 (GRCm39)	missense	possibly damaging	0.89
R7929:Itprid1	UTSW	6	55,874,946 (GRCm39)	missense	probably damaging	1.00
R8054:Itprid1	UTSW	6	55,953,424 (GRCm39)	missense	probably damaging	0.98
R8438:Itprid1	UTSW	6	55,874,878 (GRCm39)	missense	probably damaging	1.00
R8497:Itprid1	UTSW	6	55,875,179 (GRCm39)	missense	probably benign	0.02
R8677:Itprid1	UTSW	6	55,849,579 (GRCm39)	missense	probably benign	0.00
R9090:Itprid1	UTSW	6	55,944,051 (GRCm39)	missense	probably benign	0.28
R9196:Itprid1	UTSW	6	55,952,613 (GRCm39)	missense	probably damaging	1.00
R9271:Itprid1	UTSW	6	55,944,051 (GRCm39)	missense	probably benign	0.28
R9344:Itprid1	UTSW	6	55,955,470 (GRCm39)	missense	probably benign
R9384:Itprid1	UTSW	6	55,952,613 (GRCm39)	missense	probably damaging	1.00
R9558:Itprid1	UTSW	6	55,944,969 (GRCm39)	missense	possibly damaging	0.94
R9711:Itprid1	UTSW	6	55,864,018 (GRCm39)	missense	probably damaging	1.00
Z1177:Itprid1	UTSW	6	55,945,219 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07