Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03014:D130043K22Rik'

453332

Institutional Source

Beutler Lab

Gene Symbol

D130043K22Rik

Ensembl Gene

ENSMUSG00000006711

Gene Name

RIKEN cDNA D130043K22 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03014 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24845135-24901270 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24858092 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 335 (P335S)

Ref Sequence

ENSEMBL: ENSMUSP00000006893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006893] [ENSMUST00000141572]

AlphaFold

Q5SZV5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006893
AA Change: P335S

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000006893
Gene: ENSMUSG00000006711
AA Change: P335S

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Blast:MANEC	23	102	3e-44	BLAST
low complexity region	236	270	N/A	INTRINSIC
FN3	332	427	3.43e1	SMART
PKD	345	436	3.96e0	SMART
FN3	435	521	3.08e1	SMART
PKD	444	533	7.12e-10	SMART
PKD	539	629	1.46e-6	SMART
PKD	630	723	6.75e-11	SMART
FN3	634	711	5.1e1	SMART
FN3	728	808	9.15e1	SMART
PKD	729	820	4.38e-10	SMART
transmembrane domain	965	987	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141572
AA Change: P335S

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000116004
Gene: ENSMUSG00000006711
AA Change: P335S

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Blast:MANEC	23	102	2e-44	BLAST
low complexity region	236	270	N/A	INTRINSIC
FN3	332	427	3.43e1	SMART
PKD	345	436	3.96e0	SMART
FN3	435	521	3.08e1	SMART
PKD	444	533	7.12e-10	SMART
PKD	539	629	1.46e-6	SMART
PKD	630	723	6.75e-11	SMART
FN3	634	711	5.1e1	SMART

Meta Mutation Damage Score

0.0819

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

96% (51/53)

MGI Phenotype

FUNCTION: This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in a similar gene in human are associated with dyslexia. Alternatively spliced transcript variants have been identifed. [provided by RefSeq, May 2015]
PHENOTYPE: Homozygous knockout results in a mild behavioral phenotype: increased prepulse inhibition in males under certain conditions and decreased anxiety-related response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	A	G	14: 8,431,608	*675Q	probably null	Het
4933416I08Rik	TCC	TCCC	X: 53,690,895		noncoding transcript	Het
AW112010	A	G	19: 11,048,092		noncoding transcript	Het
BC003331	C	A	1: 150,383,053		probably benign	Het
Ccdc134	T	C	15: 82,130,105	L13P	probably damaging	Het
Ccdc150	G	T	1: 54,290,702	V395F	probably damaging	Het
Cdh22	G	T	2: 165,112,411	S730*	probably null	Het
Chrng	G	T	1: 87,211,037		probably null	Het
Cilp	TGGG	TGG	9: 65,280,130		probably null	Het
Crb1	CG	C	1: 139,237,086		probably null	Het
Csmd2	G	T	4: 128,296,429	M387I	probably benign	Het
Cux1	T	C	5: 136,565,525		probably benign	Het
Dctn1	A	G	6: 83,197,369		probably benign	Het
Dock11	G	T	X: 36,047,046		probably benign	Het
Dsn1	A	T	2: 156,996,819	M292K	possibly damaging	Het
Efemp1	A	G	11: 28,926,218	Y461C	probably damaging	Het
Efl1	A	G	7: 82,651,886	T33A	probably damaging	Het
Fbln2	T	C	6: 91,265,919		probably benign	Het
Fcna	G	C	2: 25,630,681		probably benign	Het
Hecw1	T	A	13: 14,245,808	Y1010F	probably damaging	Het
Igha	A	G	12: 113,259,093	V236A	unknown	Het
Igsf9b	T	C	9: 27,322,636	M377T	probably benign	Het
Itga9	A	G	9: 118,628,144	T108A	probably benign	Het
Kcna3	A	T	3: 107,037,890	M490L	probably benign	Het
Lama3	A	T	18: 12,539,967	Y886F	possibly damaging	Het
Lcorl	T	C	5: 45,774,029		probably benign	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Olfr33	A	T	7: 102,713,546	V289E	probably null	Het
Olfr43	G	A	11: 74,206,827	L130F	probably damaging	Het
Pex10	A	G	4: 155,070,619		probably benign	Het
Plcl2	G	A	17: 50,611,001	V943M	possibly damaging	Het
Prkcd	T	A	14: 30,607,337	T164S	probably damaging	Het
Ptprn2	T	A	12: 117,248,688	L910Q	probably damaging	Het
Rab1b	T	C	19: 5,104,895	I41V	probably benign	Het
Scpep1	T	A	11: 88,933,445		probably null	Het
Sergef	T	C	7: 46,590,756	T288A	probably damaging	Het
Setdb1	G	A	3: 95,341,415	P397S	probably damaging	Het
Setx	T	A	2: 29,139,411	D230E	probably damaging	Het
Sin3a	C	A	9: 57,095,255		probably benign	Het
Smad5	T	C	13: 56,735,941	L380P	probably damaging	Het
Speer4c	A	C	5: 15,714,216		probably benign	Het
Stard9	A	T	2: 120,702,194		probably benign	Het
Tek	A	G	4: 94,827,263	D346G	probably benign	Het
Trav7d-4	T	A	14: 52,769,896	W12R	unknown	Het
Trmt1l	G	T	1: 151,457,930	W728L	probably damaging	Het
Ubash3a	C	A	17: 31,239,224	T559K	probably damaging	Het
Vmn1r72	T	A	7: 11,669,784	I246F	possibly damaging	Het
Zfp618	A	T	4: 63,080,088	Q109L	probably damaging	Het

Other mutations in D130043K22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:D130043K22Rik	APN	13	24867174	missense	probably damaging	1.00
IGL01114:D130043K22Rik	APN	13	24857156	missense	probably damaging	0.99
IGL01412:D130043K22Rik	APN	13	24887860	missense	probably damaging	1.00
IGL01542:D130043K22Rik	APN	13	24876037	splice site	probably null
IGL01615:D130043K22Rik	APN	13	24899796	missense	probably damaging	1.00
IGL01705:D130043K22Rik	APN	13	24857941	missense	probably benign	0.00
IGL02220:D130043K22Rik	APN	13	24883755	missense	possibly damaging	0.95
IGL02229:D130043K22Rik	APN	13	24875924	missense	probably damaging	1.00
IGL02576:D130043K22Rik	APN	13	24856870	missense	possibly damaging	0.74
IGL03038:D130043K22Rik	APN	13	24879619	missense	probably damaging	1.00
IGL03117:D130043K22Rik	APN	13	24889842	missense	probably damaging	1.00
R0019:D130043K22Rik	UTSW	13	24880812	missense	probably damaging	1.00
R0019:D130043K22Rik	UTSW	13	24880812	missense	probably damaging	1.00
R0020:D130043K22Rik	UTSW	13	24854492	utr 5 prime	probably benign
R0172:D130043K22Rik	UTSW	13	24872406	missense	probably benign	0.16
R0276:D130043K22Rik	UTSW	13	24858045	missense	possibly damaging	0.92
R0304:D130043K22Rik	UTSW	13	24864815	missense	probably benign	0.07
R0335:D130043K22Rik	UTSW	13	24887877	missense	probably damaging	0.98
R0744:D130043K22Rik	UTSW	13	24863580	splice site	probably benign
R0833:D130043K22Rik	UTSW	13	24863580	splice site	probably benign
R0836:D130043K22Rik	UTSW	13	24863580	splice site	probably benign
R1270:D130043K22Rik	UTSW	13	24857338	missense	probably benign	0.00
R1433:D130043K22Rik	UTSW	13	24871341	missense	probably damaging	1.00
R1682:D130043K22Rik	UTSW	13	24882556	missense	probably damaging	1.00
R1772:D130043K22Rik	UTSW	13	24875999	missense	probably damaging	1.00
R1773:D130043K22Rik	UTSW	13	24882602	missense	possibly damaging	0.80
R1800:D130043K22Rik	UTSW	13	24883894	missense	probably damaging	1.00
R1956:D130043K22Rik	UTSW	13	24885595	missense	probably damaging	1.00
R2255:D130043K22Rik	UTSW	13	24856911	missense	probably damaging	1.00
R2445:D130043K22Rik	UTSW	13	24857036	missense	probably benign	0.04
R2568:D130043K22Rik	UTSW	13	24883891	missense	probably damaging	0.97
R4160:D130043K22Rik	UTSW	13	24862696	missense	probably benign	0.02
R4494:D130043K22Rik	UTSW	13	24871356	missense	probably benign	0.16
R4732:D130043K22Rik	UTSW	13	24899665	missense	probably damaging	1.00
R4733:D130043K22Rik	UTSW	13	24899665	missense	probably damaging	1.00
R4782:D130043K22Rik	UTSW	13	24878040	missense	probably damaging	1.00
R4799:D130043K22Rik	UTSW	13	24878040	missense	probably damaging	1.00
R4864:D130043K22Rik	UTSW	13	24863612	missense	probably damaging	1.00
R5155:D130043K22Rik	UTSW	13	24872290	missense	probably damaging	1.00
R5240:D130043K22Rik	UTSW	13	24877977	missense	probably damaging	1.00
R5383:D130043K22Rik	UTSW	13	24857414	missense	probably benign	0.02
R5493:D130043K22Rik	UTSW	13	24863603	missense	probably damaging	1.00
R6184:D130043K22Rik	UTSW	13	24885591	missense	probably damaging	1.00
R6305:D130043K22Rik	UTSW	13	24885685	missense	probably damaging	1.00
R6436:D130043K22Rik	UTSW	13	24877935	missense	probably damaging	1.00
R6980:D130043K22Rik	UTSW	13	24864781	missense	probably damaging	0.98
R7038:D130043K22Rik	UTSW	13	24893408	missense	probably damaging	1.00
R7085:D130043K22Rik	UTSW	13	24872302	missense	possibly damaging	0.95
R7147:D130043K22Rik	UTSW	13	24882563	missense	probably benign	0.31
R7384:D130043K22Rik	UTSW	13	24882605	missense	probably damaging	1.00
R7398:D130043K22Rik	UTSW	13	24893377	missense	probably damaging	0.97
R7584:D130043K22Rik	UTSW	13	24872370	missense	probably damaging	1.00
R7585:D130043K22Rik	UTSW	13	24885585	missense	probably benign	0.01
R7588:D130043K22Rik	UTSW	13	24887893	missense	probably damaging	0.99
R7610:D130043K22Rik	UTSW	13	24876002	missense	probably benign	0.30
R7903:D130043K22Rik	UTSW	13	24876012	missense	probably damaging	0.98
R7966:D130043K22Rik	UTSW	13	24893423	missense	probably damaging	1.00
R8014:D130043K22Rik	UTSW	13	24856702	missense	probably damaging	1.00
R8374:D130043K22Rik	UTSW	13	24857979	missense	probably benign	0.07
R8543:D130043K22Rik	UTSW	13	24889869	missense	probably benign	0.08
R8775:D130043K22Rik	UTSW	13	24856999	nonsense	probably null
R8775-TAIL:D130043K22Rik	UTSW	13	24856999	nonsense	probably null
R8806:D130043K22Rik	UTSW	13	24899635	missense	probably benign	0.11
R8916:D130043K22Rik	UTSW	13	24872271	missense	probably benign
R9209:D130043K22Rik	UTSW	13	24857107	missense	possibly damaging	0.96
R9524:D130043K22Rik	UTSW	13	24887893	missense	possibly damaging	0.89
R9743:D130043K22Rik	UTSW	13	24872316	missense	probably damaging	0.97
Z1177:D130043K22Rik	UTSW	13	24856709	missense	probably damaging	1.00
Z1177:D130043K22Rik	UTSW	13	24856834	missense	probably benign	0.39
Z1177:D130043K22Rik	UTSW	13	24872248	missense	possibly damaging	0.79
Z1177:D130043K22Rik	UTSW	13	24880847	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCCCACAGGTTCCAATGCC -3'
(R):5'- GTTAACCCTAACCTGCCAGTC -3'

Sequencing Primer
(F):5'- AGGTTCCAATGCCTTCCCATAATC -3'
(R):5'- AGAAAGGCTTCCTGGCACTC -3'

Posted On

2017-02-01