Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03103:Itprid1'

418833

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 #

IGL03103

Quality Score

Status

Chromosome

Chromosomal Location

55813880-55955720 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55945144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 622 (T622A)

Ref Sequence

ENSEMBL: ENSMUSP00000045332 (fasta)

Gene Model

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

AlphaFold

Q14B48

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044729
AA Change: T622A

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
AA Change: T622A

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdc27	A	T	11: 104,403,806 (GRCm39)	F652Y	probably benign	Het
Cntn5	T	C	9: 9,972,817 (GRCm39)		probably benign	Het
Ctsc	A	G	7: 87,959,013 (GRCm39)	N431S	probably benign	Het
Ddi2	A	G	4: 141,430,479 (GRCm39)	M235T	probably damaging	Het
Dgkg	G	A	16: 22,399,275 (GRCm39)	P220S	probably damaging	Het
Gpr180	A	T	14: 118,377,175 (GRCm39)	I59F	possibly damaging	Het
Haspin	A	T	11: 73,027,526 (GRCm39)	V521D	probably damaging	Het
Kif16b	G	T	2: 142,704,408 (GRCm39)	T57N	probably damaging	Het
Lmbr1	A	G	5: 29,440,014 (GRCm39)	F422S	probably damaging	Het
Lpcat2b	A	T	5: 107,581,414 (GRCm39)	N248Y	probably damaging	Het
Lrch3	T	C	16: 32,772,507 (GRCm39)	V163A	probably damaging	Het
Lrrc49	A	G	9: 60,592,316 (GRCm39)		probably null	Het
Mon2	T	A	10: 122,866,008 (GRCm39)		probably benign	Het
Mroh4	T	C	15: 74,488,008 (GRCm39)	S374G	possibly damaging	Het
Nr1h3	T	A	2: 91,022,360 (GRCm39)	K89N	probably damaging	Het
Or4c29	A	T	2: 88,740,522 (GRCm39)	S72T	probably benign	Het
Or52w1	A	G	7: 105,017,785 (GRCm39)	D75G	probably damaging	Het
Or8b49	A	G	9: 38,505,823 (GRCm39)	Y102C	probably damaging	Het
Phldb3	C	T	7: 24,323,601 (GRCm39)	P445L	possibly damaging	Het
Pstpip1	G	T	9: 56,021,592 (GRCm39)	V39L	possibly damaging	Het
Sbf1	A	T	15: 89,178,150 (GRCm39)	L1560Q	probably damaging	Het
Sco1	C	T	11: 66,946,568 (GRCm39)	Q114*	probably null	Het
Slc29a4	A	G	5: 142,697,835 (GRCm39)	H96R	probably damaging	Het
Slitrk6	A	G	14: 110,987,373 (GRCm39)	L778P	probably benign	Het
Tas2r110	A	G	6: 132,845,443 (GRCm39)	Q158R	probably benign	Het
Tle3	A	G	9: 61,300,524 (GRCm39)	I92V	possibly damaging	Het
Ttn	T	A	2: 76,579,266 (GRCm39)	M15549L	possibly damaging	Het
Urb2	T	G	8: 124,756,491 (GRCm39)	S733A	probably benign	Het
Vcl	T	C	14: 21,074,348 (GRCm39)	W912R	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
IGL01941:Itprid1	APN	6	55,945,030 (GRCm39)	missense	probably benign
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
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

2016-08-02