Mutagenetix > Incidental Mutation

Incidental Mutation 'R7100:Hycc2'

550741

Institutional Source

Beutler Lab

Gene Symbol

Hycc2

Ensembl Gene

ENSMUSG00000038174

Gene Name

hyccin PI4KA lipid kinase complex subunit 2

Synonyms

Fam126b, D1Ertd53e

MMRRC Submission

045192-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.865) question?

Stock #

R7100 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58561965-58625482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58573653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 384 (T384S)

Ref Sequence

ENSEMBL: ENSMUSP00000095331 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038372] [ENSMUST00000097724] [ENSMUST00000161600] [ENSMUST00000187717]

AlphaFold

Q8C729

Predicted Effect

probably benign
Transcript: ENSMUST00000038372

SMART Domains

Protein: ENSMUSP00000038718
Gene: ENSMUSG00000038174

Domain	Start	End	E-Value	Type
Pfam:Hyccin	20	330	1.7e-137	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097724
AA Change: T384S

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

SMART Domains

Protein: ENSMUSP00000095331
Gene: ENSMUSG00000038174
AA Change: T384S

Domain	Start	End	E-Value	Type
Pfam:Hyccin	22	330	3.3e-126	PFAM
low complexity region	374	399	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161600

SMART Domains

Protein: ENSMUSP00000123728
Gene: ENSMUSG00000038174

Domain	Start	End	E-Value	Type
Pfam:Hyccin	20	330	1.7e-137	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000187717

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	A	G	2: 154,394,315 (GRCm39)	E89G	probably damaging	Het
Adgrv1	A	T	13: 81,419,016 (GRCm39)	V5993E	probably damaging	Het
Amdhd1	T	C	10: 93,372,936 (GRCm39)		probably null	Het
Amph	T	C	13: 19,334,011 (GRCm39)	*691Q	probably null	Het
Ankrd55	A	G	13: 112,492,644 (GRCm39)	K272E	probably benign	Het
Arhgef10l	C	T	4: 140,244,126 (GRCm39)	V838I	possibly damaging	Het
Arl2	C	A	19: 6,184,774 (GRCm39)	V160F	probably benign	Het
Catsperb	T	C	12: 101,412,297 (GRCm39)	V128A	possibly damaging	Het
Cdk11b	T	A	4: 155,710,050 (GRCm39)	L17H	probably damaging	Het
Cpsf1	A	T	15: 76,480,314 (GRCm39)	N1391K	possibly damaging	Het
Cpxm2	C	T	7: 131,656,544 (GRCm39)	A573T	probably benign	Het
Cspg4b	T	A	13: 113,455,501 (GRCm39)	F516I		Het
Daxx	T	C	17: 34,130,416 (GRCm39)	S144P	probably damaging	Het
Dpp3	T	C	19: 4,968,069 (GRCm39)	D303G	probably damaging	Het
Fam181a	T	A	12: 103,282,132 (GRCm39)	N12K	probably damaging	Het
Flg2	A	T	3: 93,111,018 (GRCm39)	R1015S	unknown	Het
Fstl5	A	G	3: 76,443,600 (GRCm39)	H315R	probably benign	Het
Fut4	A	G	9: 14,662,689 (GRCm39)	S202P	probably damaging	Het
Gm5114	T	C	7: 39,057,708 (GRCm39)	D637G	possibly damaging	Het
Gstcd	G	T	3: 132,790,704 (GRCm39)	T21K	probably benign	Het
Heca	C	T	10: 17,791,121 (GRCm39)	V312M	probably benign	Het
Herpud1	A	G	8: 95,117,475 (GRCm39)	R144G	probably damaging	Het
Ino80	A	G	2: 119,204,994 (GRCm39)	S1511P	possibly damaging	Het
Irf2bp2	T	C	8: 127,318,472 (GRCm39)	T365A	probably benign	Het
Klk1	G	A	7: 43,878,848 (GRCm39)	G214E	probably damaging	Het
Lama3	A	T	18: 12,715,701 (GRCm39)	N1719I	possibly damaging	Het
Lmna	A	G	3: 88,392,297 (GRCm39)	I365T	probably damaging	Het
Lrp8	C	A	4: 107,659,647 (GRCm39)	A13E	possibly damaging	Het
Ly75	A	G	2: 60,136,778 (GRCm39)	L1483P	probably benign	Het
Maco1	T	C	4: 134,533,971 (GRCm39)	D550G	probably damaging	Het
Mid1	A	G	X: 168,768,073 (GRCm39)	D407G	probably benign	Het
Mpl	G	T	4: 118,314,607 (GRCm39)	A21E		Het
Mus81	C	T	19: 5,534,239 (GRCm39)	G360S	probably damaging	Het
Nmt2	T	A	2: 3,313,950 (GRCm39)	S250T	probably benign	Het
Nr1d1	C	A	11: 98,662,160 (GRCm39)	R158L	probably damaging	Het
Pcgf6	G	A	19: 47,039,153 (GRCm39)	P36S	unknown	Het
Pcnx2	G	A	8: 126,485,853 (GRCm39)	A1915V	probably benign	Het
Peak1	A	G	9: 56,166,677 (GRCm39)	V417A	probably damaging	Het
Phf20l1	A	G	15: 66,476,689 (GRCm39)	N262S	probably benign	Het
Plaat5	T	A	19: 7,616,923 (GRCm39)	F313I	unknown	Het
Ppp2r5d	A	G	17: 46,996,608 (GRCm39)	V355A	probably benign	Het
Rasa3	T	C	8: 13,636,897 (GRCm39)	T395A	probably benign	Het
Rims1	T	A	1: 22,416,697 (GRCm39)	I432F	probably benign	Het
Rnf123	C	T	9: 107,933,838 (GRCm39)	C1080Y	probably damaging	Het
Serpina3g	T	C	12: 104,204,570 (GRCm39)		probably benign	Het
Shank2	T	A	7: 143,964,901 (GRCm39)	D836E	possibly damaging	Het
Slc24a5	A	C	2: 124,922,591 (GRCm39)	S118R	probably damaging	Het
Smg1	G	T	7: 117,783,743 (GRCm39)	H1048N	unknown	Het
Specc1l	T	G	10: 75,081,329 (GRCm39)	S242A	probably benign	Het
Tagap1	A	T	17: 7,224,111 (GRCm39)	L195Q	possibly damaging	Het
Trpc3	C	A	3: 36,704,216 (GRCm39)	E580D	probably benign	Het
Ttn	A	T	2: 76,541,166 (GRCm39)	V33940E	probably benign	Het
Upp2	G	T	2: 58,681,817 (GRCm39)	R318L	probably benign	Het
Vezt	T	A	10: 93,832,795 (GRCm39)	E205D	probably benign	Het
Vmn1r177	A	G	7: 23,565,535 (GRCm39)	F114L	probably benign	Het
Vmn2r53	C	A	7: 12,315,513 (GRCm39)	E769*	probably null	Het
Vnn3	T	C	10: 23,741,840 (GRCm39)	Y382H	probably damaging	Het

Other mutations in Hycc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Hycc2	APN	1	58,579,412 (GRCm39)	splice site	probably benign
IGL00468:Hycc2	APN	1	58,569,391 (GRCm39)	missense	probably benign	0.25
IGL00701:Hycc2	APN	1	58,574,641 (GRCm39)	missense	possibly damaging	0.59
IGL00795:Hycc2	APN	1	58,591,338 (GRCm39)	missense	probably damaging	1.00
IGL02023:Hycc2	APN	1	58,569,274 (GRCm39)	missense	possibly damaging	0.53
IGL02501:Hycc2	APN	1	58,579,350 (GRCm39)	missense	probably damaging	1.00
IGL02657:Hycc2	APN	1	58,574,561 (GRCm39)	missense	probably damaging	1.00
IGL02970:Hycc2	APN	1	58,578,776 (GRCm39)	missense	probably damaging	1.00
IGL03221:Hycc2	APN	1	58,579,345 (GRCm39)	missense	probably benign	0.00
IGL03240:Hycc2	APN	1	58,569,076 (GRCm39)	missense	probably damaging	1.00
PIT4812001:Hycc2	UTSW	1	58,587,862 (GRCm39)	missense	possibly damaging	0.78
R0455:Hycc2	UTSW	1	58,573,638 (GRCm39)	splice site	probably benign
R1479:Hycc2	UTSW	1	58,591,427 (GRCm39)	nonsense	probably null
R1529:Hycc2	UTSW	1	58,578,766 (GRCm39)	missense	probably benign	0.00
R4275:Hycc2	UTSW	1	58,569,092 (GRCm39)	missense	probably benign
R5164:Hycc2	UTSW	1	58,574,597 (GRCm39)	missense	probably benign	0.13
R6332:Hycc2	UTSW	1	58,569,034 (GRCm39)	missense	probably damaging	0.99
R6352:Hycc2	UTSW	1	58,596,471 (GRCm39)	missense	probably damaging	1.00
R6549:Hycc2	UTSW	1	58,578,759 (GRCm39)	missense	probably benign	0.03
R7034:Hycc2	UTSW	1	58,574,696 (GRCm39)	missense	probably benign	0.17
R7036:Hycc2	UTSW	1	58,574,696 (GRCm39)	missense	probably benign	0.17
R7237:Hycc2	UTSW	1	58,569,107 (GRCm39)	nonsense	probably null
R7378:Hycc2	UTSW	1	58,569,193 (GRCm39)	missense	probably benign	0.00
R7403:Hycc2	UTSW	1	58,587,861 (GRCm39)	missense	possibly damaging	0.59
R8015:Hycc2	UTSW	1	58,574,641 (GRCm39)	missense	possibly damaging	0.59
R8249:Hycc2	UTSW	1	58,573,796 (GRCm39)	missense	probably benign	0.10
R8544:Hycc2	UTSW	1	58,568,981 (GRCm39)	missense	probably benign	0.09
R8726:Hycc2	UTSW	1	58,585,285 (GRCm39)	missense	possibly damaging	0.82
R8829:Hycc2	UTSW	1	58,587,832 (GRCm39)	missense	possibly damaging	0.86
R8832:Hycc2	UTSW	1	58,587,832 (GRCm39)	missense	possibly damaging	0.86
R8847:Hycc2	UTSW	1	58,595,713 (GRCm39)	missense	probably damaging	1.00
R9046:Hycc2	UTSW	1	58,568,945 (GRCm39)	missense	probably damaging	0.99
R9177:Hycc2	UTSW	1	58,591,361 (GRCm39)	missense	probably damaging	1.00
R9268:Hycc2	UTSW	1	58,591,361 (GRCm39)	missense	probably damaging	1.00
R9472:Hycc2	UTSW	1	58,574,641 (GRCm39)	missense	possibly damaging	0.59

Predicted Primers

PCR Primer
(F):5'- ATGACACAGGGATGCAGACTC -3'
(R):5'- TGAATCCCAGATGGCTTTGAC -3'

Sequencing Primer
(F):5'- ACCTAACCTGGTGCTAGGCATATG -3'
(R):5'- TGACTTCTCAAACGAGGCTG -3'

Posted On

2019-05-15