Mutagenetix > Incidental Mutation

Incidental Mutation 'R9177:Hycc2'

696719

Institutional Source

Beutler Lab

Gene Symbol

Hycc2

Ensembl Gene

ENSMUSG00000038174

Gene Name

hyccin PI4KA lipid kinase complex subunit 2

Synonyms

Fam126b, D1Ertd53e

MMRRC Submission

068949-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.865) question?

Stock #

R9177 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58561965-58625482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58591361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 94 (D94G)

Ref Sequence

ENSEMBL: ENSMUSP00000095331 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038372] [ENSMUST00000097724] [ENSMUST00000161000] [ENSMUST00000161600] [ENSMUST00000187717]

AlphaFold

Q8C729

Predicted Effect

probably damaging
Transcript: ENSMUST00000038372
AA Change: D94G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038718
Gene: ENSMUSG00000038174
AA Change: D94G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000097724
AA Change: D94G

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

SMART Domains

Protein: ENSMUSP00000095331
Gene: ENSMUSG00000038174
AA Change: D94G

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 damaging
Transcript: ENSMUST00000161000
AA Change: D94G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125653
Gene: ENSMUSG00000038174
AA Change: D94G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000161600
AA Change: D94G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123728
Gene: ENSMUSG00000038174
AA Change: D94G

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

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,775,677 (GRCm39)	V1622D	probably damaging	Het
Acadsb	C	T	7: 131,033,763 (GRCm39)	T260I	probably damaging	Het
Acap2	A	T	16: 30,955,392 (GRCm39)	V161E	probably damaging	Het
Alk	T	C	17: 72,181,190 (GRCm39)	T1367A	probably damaging	Het
Atg2a	A	C	19: 6,291,905 (GRCm39)	H27P	probably damaging	Het
Atp2c1	C	T	9: 105,336,858 (GRCm39)		probably null	Het
C1s1	T	G	6: 124,508,362 (GRCm39)	K542N	probably damaging	Het
Camk1d	A	G	2: 5,303,901 (GRCm39)	S351P	probably benign	Het
Carf	C	A	1: 60,148,558 (GRCm39)	Q85K	possibly damaging	Het
Caskin2	T	C	11: 115,698,683 (GRCm39)	N43S	probably damaging	Het
Cd40	T	C	2: 164,905,465 (GRCm39)	C161R	probably damaging	Het
Cdh19	A	G	1: 110,877,111 (GRCm39)	F76S	probably damaging	Het
Cdkl1	T	C	12: 69,794,100 (GRCm39)	N346D	probably benign	Het
Cdon	A	G	9: 35,381,230 (GRCm39)	D540G	probably benign	Het
Cep164	T	A	9: 45,691,060 (GRCm39)	E379V	probably damaging	Het
Clock	T	C	5: 76,377,256 (GRCm39)	N681S	probably benign	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Col6a5	T	G	9: 105,808,152 (GRCm39)	K965N	unknown	Het
Dctn4	T	A	18: 60,659,304 (GRCm39)	M1K	probably null	Het
Dhx30	T	C	9: 109,915,750 (GRCm39)	D741G	probably damaging	Het
Dhx37	A	G	5: 125,507,958 (GRCm39)	V104A	probably benign	Het
Dnah12	A	G	14: 26,571,255 (GRCm39)	K2788R	possibly damaging	Het
Egfr	T	A	11: 16,855,410 (GRCm39)	D898E	probably damaging	Het
Eif2ak4	G	C	2: 118,271,701 (GRCm39)		probably null	Het
Eif6	A	G	2: 155,665,852 (GRCm39)	L101P	probably damaging	Het
Etaa1	A	T	11: 17,896,419 (GRCm39)	V566E	probably damaging	Het
Far2	C	T	6: 148,060,418 (GRCm39)	T257I	probably benign	Het
Fuca2	G	A	10: 13,390,563 (GRCm39)	W453*	probably null	Het
Galntl6	A	T	8: 58,310,590 (GRCm39)	Y370*	probably null	Het
Gcn1	T	C	5: 115,719,867 (GRCm39)	V374A	probably benign	Het
Hjv	T	C	3: 96,435,881 (GRCm39)	F380L	probably benign	Het
Ifi202b	A	T	1: 173,804,949 (GRCm39)	M1K	probably null	Het
Lama4	A	G	10: 38,950,688 (GRCm39)	Y997C	probably damaging	Het
Lepr	T	A	4: 101,602,798 (GRCm39)	C195*	probably null	Het
Lrrc37	T	A	11: 103,508,263 (GRCm39)	H1235L	unknown	Het
Lrrc73	T	C	17: 46,565,535 (GRCm39)	S89P	probably benign	Het
Macf1	T	C	4: 123,367,582 (GRCm39)	E2393G	probably damaging	Het
Mdga2	T	A	12: 66,517,481 (GRCm39)	T118S	possibly damaging	Het
Msantd5f3	T	C	4: 73,575,373 (GRCm39)	S351P	probably damaging	Het
Mtf2	A	G	5: 108,234,949 (GRCm39)	K124R	probably benign	Het
Muc5b	T	C	7: 141,399,075 (GRCm39)	Y339H	unknown	Het
Nes	G	A	3: 87,887,012 (GRCm39)	G1757E	probably damaging	Het
Nfatc4	A	T	14: 56,064,685 (GRCm39)	I391F	probably damaging	Het
Nup93	A	T	8: 94,954,371 (GRCm39)	I23F	probably benign	Het
Or4a27	A	C	2: 88,559,174 (GRCm39)	Y256*	probably null	Het
Or5h17	T	G	16: 58,820,083 (GRCm39)	F12V	probably damaging	Het
Or6y1	A	C	1: 174,276,923 (GRCm39)	T245P	probably damaging	Het
Or7g16	G	T	9: 18,726,742 (GRCm39)	Q283K	probably damaging	Het
Or9i14	A	T	19: 13,792,388 (GRCm39)	C189S	probably damaging	Het
Pak5	A	C	2: 135,943,126 (GRCm39)	M338R	probably benign	Het
Papola	A	G	12: 105,766,032 (GRCm39)	E44G	probably benign	Het
Pcdh15	A	T	10: 74,479,455 (GRCm39)	E522V	probably benign	Het
Peli2	A	G	14: 48,518,927 (GRCm39)	E225G	probably benign	Het
Pla2g1b	T	G	5: 115,612,595 (GRCm39)	I117S	probably damaging	Het
Plxnd1	G	T	6: 115,943,469 (GRCm39)	Q1246K	probably benign	Het
Pole	A	G	5: 110,480,288 (GRCm39)	E1953G	probably benign	Het
Pus7l	T	C	15: 94,431,445 (GRCm39)	I395V	probably benign	Het
Shisa7	T	G	7: 4,837,333 (GRCm39)	D244A	probably damaging	Het
Slco3a1	T	C	7: 73,952,946 (GRCm39)	T538A	probably benign	Het
Syk	T	A	13: 52,766,480 (GRCm39)	N188K	probably benign	Het
Tcf20	A	G	15: 82,740,705 (GRCm39)	S249P	probably benign	Het
Tmem25	T	C	9: 44,709,529 (GRCm39)	T91A	possibly damaging	Het
Trank1	T	C	9: 111,221,579 (GRCm39)	V2772A	probably benign	Het
Ttn	A	T	2: 76,596,447 (GRCm39)	Y20155*	probably null	Het
Uchl4	C	T	9: 64,142,986 (GRCm39)	H156Y	probably benign	Het
Ulbp1	A	T	10: 7,396,392 (GRCm39)	L295Q	unknown	Het
Vwf	G	A	6: 125,581,254 (GRCm39)	A631T		Het
Zfp810	C	T	9: 22,189,936 (GRCm39)	C324Y	probably damaging	Het
Zswim8	T	C	14: 20,761,908 (GRCm39)	L227P	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
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
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'- CTGAAGGATGGCATCTGATATAAC -3'
(R):5'- ACTTACAGTTAGTGGCTTGGTCAG -3'

Sequencing Primer
(F):5'- TCAATTATGTCTCCAACAACCTTAC -3'
(R):5'- GAAATACATTACAGCTCAAGCAATGG -3'

Posted On

2022-02-07