Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02355:Cdc42bpg'

289633

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdc42bpg

Ensembl Gene

ENSMUSG00000024769

Gene Name

CDC42 binding protein kinase gamma (DMPK-like)

Synonyms

MRCKgamma

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.443) question?

Stock #

IGL02355

Quality Score

Status

Chromosome

Chromosomal Location

6306456-6325652 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6310809 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 199 (D199G)

Ref Sequence

ENSEMBL: ENSMUSP00000025681 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025681]

AlphaFold

Q80UW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025681
AA Change: D199G

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025681
Gene: ENSMUSG00000024769
AA Change: D199G

Domain	Start	End	E-Value	Type
low complexity region	21	31	N/A	INTRINSIC
S_TKc	71	337	1.63e-87	SMART
S_TK_X	338	400	7.85e-12	SMART
coiled coil region	444	551	N/A	INTRINSIC
coiled coil region	630	675	N/A	INTRINSIC
Pfam:DMPK_coil	743	801	4.6e-21	PFAM
low complexity region	861	873	N/A	INTRINSIC
C1	878	926	1.78e-7	SMART
PH	947	1067	3.57e-10	SMART
Pfam:CNH	1096	1362	7.5e-56	PFAM
low complexity region	1401	1412	N/A	INTRINSIC
low complexity region	1535	1551	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	C	2: 111,211,651		probably benign	Het
Adam3	C	A	8: 24,697,191	C428F	probably damaging	Het
Alas1	T	C	9: 106,236,639	Y469C	probably damaging	Het
Asxl1	C	T	2: 153,401,786	L1419F	probably benign	Het
Bcan	C	T	3: 87,994,142	D418N	possibly damaging	Het
Chst15	T	C	7: 132,266,672	N340D	probably benign	Het
Col12a1	T	G	9: 79,630,711		probably benign	Het
Cyp2c67	G	A	19: 39,617,382	R357*	probably null	Het
Cyp2c67	T	A	19: 39,643,405	H116L	probably benign	Het
Ears2	T	C	7: 122,044,550	D395G	probably benign	Het
Fam227a	A	T	15: 79,643,938		probably benign	Het
Fap	A	G	2: 62,573,498	V11A	probably benign	Het
Ganc	A	G	2: 120,433,757	D397G	probably damaging	Het
Gjb6	C	A	14: 57,124,295	G170C	possibly damaging	Het
Gm13023	A	G	4: 143,793,010	S114G	probably damaging	Het
Gm8989	T	C	7: 106,330,273		noncoding transcript	Het
Gria2	A	T	3: 80,706,937	W599R	probably damaging	Het
Ighv1-64	A	G	12: 115,507,616	S94P	probably benign	Het
Kifc3	C	T	8: 95,109,879	A85T	probably damaging	Het
Lifr	G	A	15: 7,164,693		probably null	Het
Lonp2	T	G	8: 86,624,246	S21R	probably benign	Het
Nxpe3	A	G	16: 55,890,586	V30A	probably benign	Het
Olfml1	T	C	7: 107,567,803	V13A	probably benign	Het
Olfr1490	T	C	19: 13,655,233	V268A	probably benign	Het
Olfr366	A	G	2: 37,219,669	Y60C	probably damaging	Het
Pcnt	G	A	10: 76,375,162	Q2376*	probably null	Het
Pglyrp2	A	G	17: 32,417,022	L380P	probably damaging	Het
Plin3	A	G	17: 56,286,636	V26A	probably benign	Het
Rims1	A	G	1: 22,483,207	I470T	probably damaging	Het
Rora	T	C	9: 69,374,092	Y329H	probably damaging	Het
Scnn1b	G	A	7: 121,917,547	R503H	probably damaging	Het
Sec14l1	A	G	11: 117,144,849	D237G	possibly damaging	Het
Selplg	A	G	5: 113,819,406	S280P	probably benign	Het
Serpina12	A	G	12: 104,037,881	L164P	probably benign	Het
Sik2	C	T	9: 50,917,603	W176*	probably null	Het
Slc2a1	T	C	4: 119,136,415	F483S	possibly damaging	Het
Speg	A	G	1: 75,423,915	D2573G	possibly damaging	Het
Stil	C	T	4: 115,010,111	S239L	probably damaging	Het
Tmem94	C	A	11: 115,794,745	S941R	probably damaging	Het
Tnfrsf11b	T	A	15: 54,252,382	D273V	probably damaging	Het
Tns2	A	G	15: 102,112,290	T864A	probably benign	Het
Zfpm2	A	G	15: 41,099,494	H184R	probably damaging	Het

Other mutations in Cdc42bpg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01149:Cdc42bpg	APN	19	6312205	splice site	probably benign
IGL01415:Cdc42bpg	APN	19	6310851	missense	probably damaging	1.00
IGL01517:Cdc42bpg	APN	19	6318437	missense	probably damaging	1.00
IGL01585:Cdc42bpg	APN	19	6320432	missense	possibly damaging	0.93
IGL01743:Cdc42bpg	APN	19	6309823	critical splice donor site	probably null
IGL01930:Cdc42bpg	APN	19	6311368	missense	probably damaging	1.00
IGL02092:Cdc42bpg	APN	19	6316826	splice site	probably benign
IGL02362:Cdc42bpg	APN	19	6310809	missense	possibly damaging	0.93
IGL02498:Cdc42bpg	APN	19	6322793	missense	probably benign
IGL03004:Cdc42bpg	APN	19	6311383	missense	probably benign	0.38
IGL03037:Cdc42bpg	APN	19	6311200	missense	probably damaging	1.00
PIT1430001:Cdc42bpg	UTSW	19	6322552	splice site	probably null
R0304:Cdc42bpg	UTSW	19	6317248	missense	probably damaging	0.99
R0367:Cdc42bpg	UTSW	19	6311395	missense	probably damaging	1.00
R0412:Cdc42bpg	UTSW	19	6313457	missense	probably damaging	1.00
R0742:Cdc42bpg	UTSW	19	6318575	critical splice donor site	probably null
R1026:Cdc42bpg	UTSW	19	6317187	missense	probably damaging	1.00
R1056:Cdc42bpg	UTSW	19	6314021	missense	probably benign	0.10
R1065:Cdc42bpg	UTSW	19	6322826	missense	probably damaging	1.00
R1476:Cdc42bpg	UTSW	19	6313782	missense	probably damaging	0.99
R1854:Cdc42bpg	UTSW	19	6320807	missense	possibly damaging	0.67
R1936:Cdc42bpg	UTSW	19	6310309	missense	probably damaging	1.00
R1962:Cdc42bpg	UTSW	19	6306855	missense	probably damaging	1.00
R2070:Cdc42bpg	UTSW	19	6320488	missense	probably damaging	1.00
R2167:Cdc42bpg	UTSW	19	6317677	missense	probably damaging	1.00
R3826:Cdc42bpg	UTSW	19	6317645	missense	probably damaging	0.99
R3829:Cdc42bpg	UTSW	19	6317645	missense	probably damaging	0.99
R4190:Cdc42bpg	UTSW	19	6321681	missense	probably damaging	1.00
R4249:Cdc42bpg	UTSW	19	6315266	missense	possibly damaging	0.65
R4499:Cdc42bpg	UTSW	19	6320555	missense	possibly damaging	0.69
R4731:Cdc42bpg	UTSW	19	6311191	missense	probably damaging	1.00
R4732:Cdc42bpg	UTSW	19	6311191	missense	probably damaging	1.00
R4733:Cdc42bpg	UTSW	19	6311191	missense	probably damaging	1.00
R4797:Cdc42bpg	UTSW	19	6320447	missense	probably damaging	1.00
R4831:Cdc42bpg	UTSW	19	6311335	missense	probably damaging	0.97
R4984:Cdc42bpg	UTSW	19	6316223	missense	possibly damaging	0.88
R5092:Cdc42bpg	UTSW	19	6313220	missense	probably benign	0.01
R5135:Cdc42bpg	UTSW	19	6320618	missense	probably damaging	1.00
R5183:Cdc42bpg	UTSW	19	6321805	intron	probably benign
R5208:Cdc42bpg	UTSW	19	6321720	missense	probably benign	0.01
R5240:Cdc42bpg	UTSW	19	6315899	missense	probably damaging	1.00
R5475:Cdc42bpg	UTSW	19	6311071	missense	probably damaging	0.99
R5703:Cdc42bpg	UTSW	19	6322673	missense	possibly damaging	0.87
R5876:Cdc42bpg	UTSW	19	6310815	missense	probably damaging	1.00
R6024:Cdc42bpg	UTSW	19	6317496	missense	probably damaging	1.00
R6266:Cdc42bpg	UTSW	19	6311473	missense	probably damaging	1.00
R6450:Cdc42bpg	UTSW	19	6314488	splice site	probably null
R6493:Cdc42bpg	UTSW	19	6318455	missense	probably damaging	0.96
R6983:Cdc42bpg	UTSW	19	6321668	missense	probably damaging	1.00
R7080:Cdc42bpg	UTSW	19	6315189	missense	probably damaging	0.97
R7125:Cdc42bpg	UTSW	19	6322291	missense	probably damaging	1.00
R7183:Cdc42bpg	UTSW	19	6310797	missense	probably damaging	1.00
R7317:Cdc42bpg	UTSW	19	6314504	missense	probably benign	0.11
R7426:Cdc42bpg	UTSW	19	6318398	missense	probably damaging	1.00
R7504:Cdc42bpg	UTSW	19	6306784	missense	possibly damaging	0.85
R7530:Cdc42bpg	UTSW	19	6322275	missense	probably benign	0.21
R7530:Cdc42bpg	UTSW	19	6322276	missense	probably benign	0.12
R7739:Cdc42bpg	UTSW	19	6310815	missense	probably damaging	1.00
R7903:Cdc42bpg	UTSW	19	6313469	missense	possibly damaging	0.94
R8186:Cdc42bpg	UTSW	19	6306865	missense	probably damaging	1.00
R8331:Cdc42bpg	UTSW	19	6313447	missense	probably benign	0.08
R8870:Cdc42bpg	UTSW	19	6314520	missense	possibly damaging	0.94
R9014:Cdc42bpg	UTSW	19	6322259	missense	possibly damaging	0.88
R9256:Cdc42bpg	UTSW	19	6311037	missense	probably damaging	1.00
R9263:Cdc42bpg	UTSW	19	6322119	missense	probably damaging	1.00
R9343:Cdc42bpg	UTSW	19	6314523	missense	probably damaging	1.00
R9423:Cdc42bpg	UTSW	19	6313299	missense	probably damaging	1.00
R9565:Cdc42bpg	UTSW	19	6320666	missense	probably damaging	1.00
R9667:Cdc42bpg	UTSW	19	6320085	missense	probably benign	0.00
Z1177:Cdc42bpg	UTSW	19	6309746	missense	probably damaging	1.00
Z1177:Cdc42bpg	UTSW	19	6314522	missense	possibly damaging	0.94
Z1177:Cdc42bpg	UTSW	19	6314523	missense	probably damaging	1.00

Posted On

2015-04-16