Mutagenetix > Incidental Mutation

Incidental Mutation 'R4485:Itprid1'

331573

Institutional Source

Beutler Lab

Gene Symbol

Itprid1

Ensembl Gene

ENSMUSG00000037973

Gene Name

ITPR interacting domain containing 1

Synonyms

D530004J12Rik, Ccdc129

MMRRC Submission

041741-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4485 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55813880-55955720 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55864051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 126 (T126A)

Ref Sequence

ENSEMBL: ENSMUSP00000045332 (fasta)

Gene Model

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

AlphaFold

Q14B48

Predicted Effect

probably benign
Transcript: ENSMUST00000044729
AA Change: T126A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
AA Change: T126A

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agxt2	A	T	15: 10,378,968 (GRCm39)	I190L	possibly damaging	Het
Ahnak2	A	G	12: 112,745,944 (GRCm39)		probably benign	Het
Apol7b	C	A	15: 77,307,866 (GRCm39)	V210L	probably benign	Het
Banf2	C	T	2: 143,915,772 (GRCm39)	T71M	probably damaging	Het
Cacna1s	A	G	1: 136,004,590 (GRCm39)	D130G	probably damaging	Het
Capn8	T	C	1: 182,426,306 (GRCm39)	F214L	possibly damaging	Het
Ccdc168	A	G	1: 44,099,283 (GRCm39)	L605S	probably benign	Het
Cdk5rap2	A	T	4: 70,157,520 (GRCm39)		probably null	Het
Cldn8	A	C	16: 88,359,619 (GRCm39)	M102R	probably damaging	Het
Cpb1	T	G	3: 20,303,865 (GRCm39)	M400L	probably benign	Het
Eps15l1	A	T	8: 73,153,531 (GRCm39)	I52N	possibly damaging	Het
Gbp9	C	G	5: 105,231,674 (GRCm39)	G304A	probably damaging	Het
Gm14226	G	A	2: 154,867,191 (GRCm39)	V383I	probably benign	Het
Npm2	A	T	14: 70,885,749 (GRCm39)	V152D	possibly damaging	Het
Nsd1	T	C	13: 55,393,434 (GRCm39)	V345A	probably benign	Het
Or56a3	T	A	7: 104,735,808 (GRCm39)	V295D	probably damaging	Het
Or5b107	T	C	19: 13,142,855 (GRCm39)	V159A	possibly damaging	Het
Or5b118	T	C	19: 13,448,919 (GRCm39)	I195T	probably benign	Het
Or5p58	T	C	7: 107,694,222 (GRCm39)	D185G	probably benign	Het
Otof	T	A	5: 30,532,344 (GRCm39)	H1601L	possibly damaging	Het
Plat	G	A	8: 23,262,228 (GRCm39)	S84N	probably benign	Het
Prss30	T	C	17: 24,192,130 (GRCm39)	D224G	probably damaging	Het
Psg25	C	A	7: 18,260,203 (GRCm39)	V232F	probably damaging	Het
Ptch1	C	T	13: 63,682,143 (GRCm39)	R537H	probably damaging	Het
Pus7l	G	T	15: 94,421,371 (GRCm39)	H646Q	probably benign	Het
Ryr1	C	T	7: 28,789,581 (GRCm39)	S1511N	probably damaging	Het
Slc16a1	A	G	3: 104,562,794 (GRCm39)	K413R	probably benign	Het
Snrnp48	T	A	13: 38,400,304 (GRCm39)	M137K	probably benign	Het
Tecta	T	A	9: 42,248,570 (GRCm39)	H1944L	possibly damaging	Het
Tmem145	A	G	7: 25,006,587 (GRCm39)	E65G	possibly damaging	Het
Vmn2r87	A	T	10: 130,315,678 (GRCm39)	Y129*	probably null	Het
Wdr7	A	G	18: 63,910,621 (GRCm39)	H671R	possibly damaging	Het
Zfp219	A	G	14: 52,244,841 (GRCm39)	V518A	probably damaging	Het
Zfp472	T	C	17: 33,196,542 (GRCm39)	W206R	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- CACTGTGGGGTTATTAGAAACAGG -3'
(R):5'- GACAGACAGTTAATCTCCTTTCCAAC -3'

Sequencing Primer
(F):5'- CAGGAGGAAACAAAAATGATTTCTTG -3'
(R):5'- CAACTTCACTGCCTTTTTAAATGTAC -3'

Posted On

2015-07-21