Mutagenetix > Incidental Mutation

Incidental Mutation 'R8847:Hycc2'

706160

Institutional Source

Beutler Lab

Gene Symbol

Hycc2

Ensembl Gene

ENSMUSG00000038174

Gene Name

hyccin PI4KA lipid kinase complex subunit 2

Synonyms

Fam126b, D1Ertd53e

MMRRC Submission

068735-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.865) question?

Stock #

R8847 (G1)

Quality Score

193.009

Status

Validated

Chromosome

Chromosomal Location

58561965-58625482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 58595713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 55 (P55Q)

Ref Sequence

ENSEMBL: ENSMUSP00000141058 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038372] [ENSMUST00000097724] [ENSMUST00000161000] [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

probably benign
Transcript: ENSMUST00000097724

SMART Domains

Protein: ENSMUSP00000095331
Gene: ENSMUSG00000038174

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: ENSMUST00000161000

SMART Domains

Protein: ENSMUSP00000125653
Gene: ENSMUSG00000038174

Domain	Start	End	E-Value	Type
Pfam:Hyccin	20	99	3e-33	PFAM

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 damaging
Transcript: ENSMUST00000187717
AA Change: P55Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	C	8: 41,206,746 (GRCm39)	R4T	probably benign	Het
Alk	T	A	17: 72,256,820 (GRCm39)	I680F	probably benign	Het
Best3	A	G	10: 116,824,572 (GRCm39)	T13A	possibly damaging	Het
Ccdc7b	A	G	8: 129,872,082 (GRCm39)	D59G		Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Cic	G	A	7: 24,970,631 (GRCm39)	V121M	probably damaging	Het
Clasp1	C	G	1: 118,506,705 (GRCm39)	P1280R	probably damaging	Het
Col6a5	A	T	9: 105,741,472 (GRCm39)	N2482K	possibly damaging	Het
Crebbp	A	G	16: 3,902,891 (GRCm39)	M2116T	probably benign	Het
Ddn	T	C	15: 98,704,794 (GRCm39)	E166G	possibly damaging	Het
Dennd6a	C	T	14: 26,327,086 (GRCm39)	T249I	probably benign	Het
Diaph1	A	T	18: 37,987,590 (GRCm39)	D1055E	possibly damaging	Het
Dnajc13	C	A	9: 104,057,360 (GRCm39)	G1547*	probably null	Het
Dvl1	C	T	4: 155,942,611 (GRCm39)	R626C	possibly damaging	Het
Fer1l6	A	C	15: 58,414,012 (GRCm39)	K13Q	possibly damaging	Het
Fry	G	A	5: 150,309,472 (GRCm39)	E639K		Het
Gm6408	G	T	5: 146,420,602 (GRCm39)	V161L	probably benign	Het
Gpatch8	A	T	11: 102,372,010 (GRCm39)	N509K	unknown	Het
Ints13	T	C	6: 146,457,631 (GRCm39)	T416A	probably benign	Het
Iqcf6	A	T	9: 106,504,650 (GRCm39)	M105L	probably damaging	Het
Magi3	C	A	3: 103,922,334 (GRCm39)	R1461L	probably benign	Het
Map3k8	A	T	18: 4,333,889 (GRCm39)	L401Q		Het
Miga2	G	T	2: 30,273,990 (GRCm39)	R542L	probably damaging	Het
Mphosph9	A	T	5: 124,454,209 (GRCm39)	V96E	possibly damaging	Het
Nek5	T	C	8: 22,613,595 (GRCm39)	S28G	probably benign	Het
Niban1	A	G	1: 151,575,929 (GRCm39)	E351G	probably damaging	Het
Notch4	A	G	17: 34,803,962 (GRCm39)		probably benign	Het
Npc1	A	G	18: 12,323,987 (GRCm39)	L1275P	probably damaging	Het
Nphp4	C	T	4: 152,590,863 (GRCm39)	R287C	probably damaging	Het
Or10ak11	T	C	4: 118,686,821 (GRCm39)	D271G	probably damaging	Het
Or13a20	G	C	7: 140,232,326 (GRCm39)	A145P	possibly damaging	Het
Or1j13	G	A	2: 36,369,483 (GRCm39)	R220*	probably null	Het
Or1p1c	C	T	11: 74,160,443 (GRCm39)	T76I	probably damaging	Het
Parn	A	T	16: 13,446,270 (GRCm39)	L343*	probably null	Het
Pax5	T	A	4: 44,691,865 (GRCm39)	D127V	probably benign	Het
Peak1	C	A	9: 56,114,427 (GRCm39)	D1505Y	probably damaging	Het
Perm1	C	T	4: 156,302,068 (GRCm39)	T204I	probably benign	Het
Pid1	A	T	1: 84,093,694 (GRCm39)	S65T	unknown	Het
Pkn2	A	G	3: 142,526,401 (GRCm39)	V392A	probably benign	Het
Plekhh2	A	G	17: 84,878,479 (GRCm39)	D578G	probably benign	Het
Ppp4r4	T	A	12: 103,562,747 (GRCm39)	L572Q	probably damaging	Het
Pum3	G	A	19: 27,398,713 (GRCm39)	T279M	probably damaging	Het
Rasa2	A	G	9: 96,458,402 (GRCm39)	V266A	possibly damaging	Het
Sirpb1c	C	T	3: 15,886,584 (GRCm39)	W264*	probably null	Het
Slc35g3	A	T	11: 69,651,399 (GRCm39)	Y195*	probably null	Het
Slk	T	A	19: 47,607,632 (GRCm39)	H289Q		Het
Spef2	T	C	15: 9,668,913 (GRCm39)	S758G	probably benign	Het
Spon2	C	T	5: 33,371,841 (GRCm39)	A322T	probably benign	Het
Spred2	T	C	11: 19,951,064 (GRCm39)	L87P	probably benign	Het
Stk10	A	G	11: 32,539,427 (GRCm39)	D269G		Het
Tex48	T	A	4: 63,530,772 (GRCm39)		probably benign	Het
Themis2	T	A	4: 132,513,509 (GRCm39)	H239L	probably damaging	Het
Tle4	T	A	19: 14,493,737 (GRCm39)	R199*	probably null	Het
Tlr11	C	T	14: 50,600,182 (GRCm39)	H723Y	possibly damaging	Het
Trdj2	T	A	14: 54,374,237 (GRCm39)	S1T		Het
Vdac1	T	G	11: 52,267,230 (GRCm39)	S44A		Het
Vill	C	T	9: 118,897,514 (GRCm39)	T647I	probably damaging	Het
Vmn1r61	A	G	7: 5,613,817 (GRCm39)	C166R	probably damaging	Het
Vmn2r114	T	A	17: 23,528,986 (GRCm39)	N372I	probably damaging	Het
Vmn2r120	T	A	17: 57,816,217 (GRCm39)	M713L	probably benign	Het
Vmn2r61	T	C	7: 41,950,010 (GRCm39)	V810A	probably damaging	Het
Vmn2r65	A	T	7: 84,590,212 (GRCm39)	L568Q	probably damaging	Het
Wdr7	T	C	18: 63,872,293 (GRCm39)	V409A	probably damaging	Het
Ylpm1	C	A	12: 85,061,672 (GRCm39)	N524K	unknown	Het
Zfp958	A	C	8: 4,678,434 (GRCm39)	H153P	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
R7100:Hycc2	UTSW	1	58,573,653 (GRCm39)	missense	possibly damaging	0.94
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
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'- CAACAGCAGATGCAAGTCTG -3'
(R):5'- AGCAACTCTGATCAATTGTAAGCTG -3'

Sequencing Primer
(F):5'- ATGCAAGTCTGAGAGCCGATCC -3'
(R):5'- TGTAAGCTGATATCACAAAAGTATGC -3'

Posted On

2022-04-06