Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02963:Bahcc1'

365441

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bahcc1

Ensembl Gene

ENSMUSG00000039741

Gene Name

BAH domain and coiled-coil containing 1

Synonyms

KIAA1447

Accession Numbers

Genbank: NM_198423; MGI: 2679272

Is this an essential gene?

Probably essential (E-score: 0.875) question?

Stock #

IGL02963

Quality Score

Status

Chromosome

Chromosomal Location

120232947-120292296 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120274932 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1005 (S1005P)

Ref Sequence

ENSEMBL: ENSMUSP00000112827 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044985] [ENSMUST00000118987] [ENSMUST00000122148]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044985
AA Change: S1005P

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000043643
Gene: ENSMUSG00000039741
AA Change: S1005P

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
low complexity region	219	233	N/A	INTRINSIC
low complexity region	351	366	N/A	INTRINSIC
low complexity region	756	778	N/A	INTRINSIC
low complexity region	811	821	N/A	INTRINSIC
low complexity region	882	890	N/A	INTRINSIC
coiled coil region	931	976	N/A	INTRINSIC
low complexity region	1042	1059	N/A	INTRINSIC
low complexity region	1127	1139	N/A	INTRINSIC
low complexity region	1172	1183	N/A	INTRINSIC
low complexity region	1267	1277	N/A	INTRINSIC
coiled coil region	1346	1373	N/A	INTRINSIC
coiled coil region	1437	1486	N/A	INTRINSIC
low complexity region	1706	1711	N/A	INTRINSIC
low complexity region	1729	1740	N/A	INTRINSIC
low complexity region	1746	1764	N/A	INTRINSIC
low complexity region	1865	1891	N/A	INTRINSIC
low complexity region	2088	2104	N/A	INTRINSIC
low complexity region	2135	2158	N/A	INTRINSIC
low complexity region	2209	2224	N/A	INTRINSIC
low complexity region	2225	2245	N/A	INTRINSIC
low complexity region	2317	2332	N/A	INTRINSIC
low complexity region	2348	2387	N/A	INTRINSIC
low complexity region	2401	2410	N/A	INTRINSIC
low complexity region	2429	2447	N/A	INTRINSIC
BAH	2517	2637	4.19e-20	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118987
AA Change: S1005P

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112784
Gene: ENSMUSG00000039741
AA Change: S1005P

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
low complexity region	219	233	N/A	INTRINSIC
low complexity region	351	366	N/A	INTRINSIC
low complexity region	756	778	N/A	INTRINSIC
low complexity region	811	821	N/A	INTRINSIC
low complexity region	882	890	N/A	INTRINSIC
coiled coil region	931	976	N/A	INTRINSIC
low complexity region	1042	1059	N/A	INTRINSIC
low complexity region	1127	1139	N/A	INTRINSIC
low complexity region	1172	1183	N/A	INTRINSIC
low complexity region	1267	1277	N/A	INTRINSIC
coiled coil region	1346	1373	N/A	INTRINSIC
coiled coil region	1437	1486	N/A	INTRINSIC
low complexity region	1706	1711	N/A	INTRINSIC
low complexity region	1729	1740	N/A	INTRINSIC
low complexity region	1746	1764	N/A	INTRINSIC
low complexity region	1865	1891	N/A	INTRINSIC
low complexity region	2088	2104	N/A	INTRINSIC
low complexity region	2135	2158	N/A	INTRINSIC
low complexity region	2209	2224	N/A	INTRINSIC
low complexity region	2225	2245	N/A	INTRINSIC
low complexity region	2317	2332	N/A	INTRINSIC
low complexity region	2348	2387	N/A	INTRINSIC
low complexity region	2401	2410	N/A	INTRINSIC
low complexity region	2429	2447	N/A	INTRINSIC
BAH	2517	2637	4.19e-20	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122148
AA Change: S1005P

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112827
Gene: ENSMUSG00000039741
AA Change: S1005P

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
low complexity region	219	233	N/A	INTRINSIC
low complexity region	351	366	N/A	INTRINSIC
low complexity region	756	778	N/A	INTRINSIC
low complexity region	811	821	N/A	INTRINSIC
low complexity region	882	890	N/A	INTRINSIC
coiled coil region	931	976	N/A	INTRINSIC
low complexity region	1042	1059	N/A	INTRINSIC
low complexity region	1127	1139	N/A	INTRINSIC
low complexity region	1172	1183	N/A	INTRINSIC
low complexity region	1267	1277	N/A	INTRINSIC
coiled coil region	1346	1373	N/A	INTRINSIC
coiled coil region	1437	1486	N/A	INTRINSIC
low complexity region	1706	1711	N/A	INTRINSIC
low complexity region	1729	1740	N/A	INTRINSIC
low complexity region	1746	1764	N/A	INTRINSIC
low complexity region	1865	1891	N/A	INTRINSIC
low complexity region	2088	2104	N/A	INTRINSIC
low complexity region	2135	2158	N/A	INTRINSIC
low complexity region	2209	2224	N/A	INTRINSIC
low complexity region	2225	2245	N/A	INTRINSIC
low complexity region	2317	2332	N/A	INTRINSIC
low complexity region	2348	2387	N/A	INTRINSIC
low complexity region	2401	2410	N/A	INTRINSIC
low complexity region	2429	2447	N/A	INTRINSIC
BAH	2517	2637	4.19e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197891

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality for the majority of mutants. Those that survive exhibit hind leg motor dysfunction. [provided by MGI curators]

Allele List at MGI

All alleles(26) : Targeted, knock-out(2) Gene trapped(24)

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,384,529	L565Q	probably damaging	Het
Ap1b1	G	T	11: 5,033,738	A664S	possibly damaging	Het
Arhgap44	A	T	11: 65,031,663	I348N	probably damaging	Het
Cdh20	T	A	1: 104,934,098	M1K	probably null	Het
Cpsf3	T	C	12: 21,302,422	S387P	probably damaging	Het
Cyp2j6	T	C	4: 96,518,184	E450G	probably damaging	Het
Cyr61	A	G	3: 145,647,875	Y311H	probably damaging	Het
Dusp13	T	C	14: 21,733,807	T147A	possibly damaging	Het
Eif3c	T	C	7: 126,556,820	T493A	probably benign	Het
Ell2	T	C	13: 75,769,643	V564A	possibly damaging	Het
Gm4788	G	A	1: 139,731,596	Q732*	probably null	Het
Gtf2ird1	T	G	5: 134,389,687	E478D	probably benign	Het
Gys2	A	T	6: 142,449,428		probably null	Het
H2-T3	T	C	17: 36,189,634	T104A	probably damaging	Het
Herc1	T	C	9: 66,388,823	S567P	probably damaging	Het
Kcnq3	A	T	15: 66,285,826		probably benign	Het
Kdm7a	T	C	6: 39,143,230	H935R	probably damaging	Het
Lcat	A	T	8: 105,939,956	F311L	probably damaging	Het
Manf	A	G	9: 106,891,139	S49P	possibly damaging	Het
Med25	T	C	7: 44,892,256	K37E	probably damaging	Het
Ms4a4b	T	A	19: 11,454,698	I61K	probably damaging	Het
Muc5b	T	C	7: 141,864,264	I3649T	probably damaging	Het
Myo18a	T	G	11: 77,842,018		probably benign	Het
Ncoa4	T	C	14: 32,176,509	C429R	probably damaging	Het
Olfr113	A	G	17: 37,574,854	S190P	probably benign	Het
Pigk	G	T	3: 152,766,461	E337*	probably null	Het
Pigz	A	T	16: 31,944,535	Y137F	probably damaging	Het
Ppp1r12b	A	G	1: 134,886,548	L339P	probably damaging	Het
Rasa2	C	A	9: 96,570,785	L349F	probably damaging	Het
Reep4	A	G	14: 70,547,970	S186G	possibly damaging	Het
Rfx7	A	G	9: 72,617,616	K696R	probably benign	Het
Rnf220	A	G	4: 117,490,192	F8L	probably damaging	Het
Rprm	T	C	2: 54,085,214	T31A	probably benign	Het
Sez6	T	A	11: 77,962,949	L148Q	possibly damaging	Het
Sh2d6	C	T	6: 72,517,601	V96I	probably benign	Het
Slc16a9	G	T	10: 70,267,136	V81F	probably damaging	Het
Slc9a9	T	A	9: 95,020,714		probably null	Het
Sppl3	T	A	5: 115,061,603	L22Q	probably damaging	Het
Ssc5d	T	C	7: 4,944,327	S1227P	probably benign	Het
Tbc1d1	T	A	5: 64,264,366	V238E	probably damaging	Het
Tmco6	G	A	18: 36,738,745		probably null	Het
Tyr	A	G	7: 87,483,997	V287A	probably benign	Het
Uvrag	A	T	7: 98,906,490		probably null	Het
Vmn1r167	A	G	7: 23,505,550	S14P	possibly damaging	Het
Vmn1r171	A	G	7: 23,632,688	T113A	possibly damaging	Het
Wnk4	A	G	11: 101,276,213		probably benign	Het
Zan	T	C	5: 137,456,250	T1431A	unknown	Het

Other mutations in Bahcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Bahcc1	APN	11	120272304	missense	probably damaging	1.00
IGL00536:Bahcc1	APN	11	120285045	missense	probably damaging	0.96
IGL01339:Bahcc1	APN	11	120289512	missense	probably damaging	1.00
IGL01695:Bahcc1	APN	11	120276609	missense	probably benign	0.02
IGL01744:Bahcc1	APN	11	120271737	missense	probably benign	0.02
IGL01769:Bahcc1	APN	11	120280204	splice site	probably benign
IGL01982:Bahcc1	APN	11	120287473	missense	probably damaging	1.00
IGL02341:Bahcc1	APN	11	120272520	missense	probably damaging	1.00
IGL02535:Bahcc1	APN	11	120287536	missense	possibly damaging	0.88
IGL02559:Bahcc1	APN	11	120285172	missense	probably damaging	0.97
IGL02579:Bahcc1	APN	11	120285349	splice site	probably benign
IGL02609:Bahcc1	APN	11	120289398	missense	possibly damaging	0.93
IGL02678:Bahcc1	APN	11	120272871	missense	probably damaging	1.00
IGL02800:Bahcc1	APN	11	120272934	missense	probably damaging	1.00
IGL03128:Bahcc1	APN	11	120268434	splice site	probably benign
IGL03242:Bahcc1	APN	11	120268300	splice site	probably benign
IGL03248:Bahcc1	APN	11	120268409	missense	probably damaging	1.00
Dimensionality	UTSW	11	120273009	missense	probably damaging	1.00
G1citation:Bahcc1	UTSW	11	120287721	missense	probably damaging	1.00
R0019:Bahcc1	UTSW	11	120289771	missense	probably damaging	1.00
R0040:Bahcc1	UTSW	11	120268370	missense	probably damaging	1.00
R0040:Bahcc1	UTSW	11	120268370	missense	probably damaging	1.00
R0148:Bahcc1	UTSW	11	120268404	missense	probably damaging	1.00
R0164:Bahcc1	UTSW	11	120285074	splice site	probably benign
R0321:Bahcc1	UTSW	11	120273425	critical splice donor site	probably null
R0671:Bahcc1	UTSW	11	120287320	missense	probably damaging	1.00
R0737:Bahcc1	UTSW	11	120272841	missense	probably damaging	1.00
R1452:Bahcc1	UTSW	11	120282239	splice site	probably benign
R1570:Bahcc1	UTSW	11	120272183	missense	possibly damaging	0.74
R1914:Bahcc1	UTSW	11	120285399	missense	probably damaging	1.00
R2010:Bahcc1	UTSW	11	120272778	missense	probably damaging	1.00
R2075:Bahcc1	UTSW	11	120271689	missense	probably damaging	1.00
R2085:Bahcc1	UTSW	11	120288082	missense	probably damaging	1.00
R3552:Bahcc1	UTSW	11	120276772	missense	possibly damaging	0.90
R3711:Bahcc1	UTSW	11	120275097	missense	probably benign	0.27
R3804:Bahcc1	UTSW	11	120283358	missense	probably benign	0.01
R4349:Bahcc1	UTSW	11	120259201	missense	probably damaging	1.00
R4557:Bahcc1	UTSW	11	120275088	missense	probably damaging	1.00
R4801:Bahcc1	UTSW	11	120282225	missense	probably benign	0.00
R4802:Bahcc1	UTSW	11	120282225	missense	probably benign	0.00
R4908:Bahcc1	UTSW	11	120287754	missense	probably benign	0.36
R4941:Bahcc1	UTSW	11	120286665	missense	probably benign
R5217:Bahcc1	UTSW	11	120274459	nonsense	probably null
R5241:Bahcc1	UTSW	11	120271403	missense	probably damaging	1.00
R5432:Bahcc1	UTSW	11	120287988	missense	probably benign	0.02
R5696:Bahcc1	UTSW	11	120273987	missense	probably damaging	1.00
R5724:Bahcc1	UTSW	11	120285366	missense	possibly damaging	0.78
R5725:Bahcc1	UTSW	11	120274888	missense	probably benign
R5788:Bahcc1	UTSW	11	120286352	missense	probably damaging	1.00
R5893:Bahcc1	UTSW	11	120285430	missense	probably damaging	0.99
R5900:Bahcc1	UTSW	11	120284493	missense	probably damaging	1.00
R6014:Bahcc1	UTSW	11	120289789	missense	probably benign	0.00
R6058:Bahcc1	UTSW	11	120287385	missense	probably damaging	1.00
R6107:Bahcc1	UTSW	11	120272888	missense	probably benign	0.00
R6302:Bahcc1	UTSW	11	120276808	missense	probably damaging	1.00
R6525:Bahcc1	UTSW	11	120285222	missense	probably damaging	1.00
R6550:Bahcc1	UTSW	11	120276651	missense	possibly damaging	0.94
R6822:Bahcc1	UTSW	11	120287721	missense	probably damaging	1.00
R6836:Bahcc1	UTSW	11	120271757	nonsense	probably null
R6846:Bahcc1	UTSW	11	120271596	missense	possibly damaging	0.92
R6916:Bahcc1	UTSW	11	120273009	missense	probably damaging	1.00
R6966:Bahcc1	UTSW	11	120283159	missense	probably damaging	0.99
R7097:Bahcc1	UTSW	11	120272646	missense	possibly damaging	0.87
R7289:Bahcc1	UTSW	11	120280174	missense	probably benign	0.08
R7441:Bahcc1	UTSW	11	120286306	missense	probably damaging	0.99
R7520:Bahcc1	UTSW	11	120276205	missense	possibly damaging	0.47
R7556:Bahcc1	UTSW	11	120287763	missense	probably damaging	1.00
R7672:Bahcc1	UTSW	11	120283346	missense	possibly damaging	0.63
R7791:Bahcc1	UTSW	11	120268377	missense	probably damaging	1.00
R7794:Bahcc1	UTSW	11	120272681	nonsense	probably null
R7802:Bahcc1	UTSW	11	120274692	missense	probably benign	0.03
R7946:Bahcc1	UTSW	11	120272499	missense	probably benign
R7985:Bahcc1	UTSW	11	120272891	missense	probably damaging	0.97
R8128:Bahcc1	UTSW	11	120272390	nonsense	probably null
R8131:Bahcc1	UTSW	11	120272838	missense	probably benign	0.01
R8353:Bahcc1	UTSW	11	120274425	missense	probably damaging	1.00
R8439:Bahcc1	UTSW	11	120274589	missense	probably benign	0.01
X0026:Bahcc1	UTSW	11	120271752	missense	probably benign	0.20
Z1176:Bahcc1	UTSW	11	120276609	missense	possibly damaging	0.89
Z1176:Bahcc1	UTSW	11	120284394	missense	probably benign	0.00
Z1177:Bahcc1	UTSW	11	120272921	missense	possibly damaging	0.73

Posted On

2015-12-18