Mutagenetix > Incidental Mutations

Incidental Mutation 'R7556:Bahcc1'

584794

Institutional Source

Beutler Lab

Gene Symbol

Bahcc1

Ensembl Gene

ENSMUSG00000039741

Gene Name

BAH domain and coiled-coil containing 1

Synonyms

KIAA1447

MMRRC Submission

Accession Numbers

Genbank: NM_198423; MGI: 2679272

Is this an essential gene?

Probably essential (E-score: 0.785) question?

Stock #

R7556 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120232947-120292296 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120287763 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 2383 (S2383P)

Ref Sequence

ENSEMBL: ENSMUSP00000112827 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000044985
AA Change: S2383P

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

SMART Domains

Protein: ENSMUSP00000043643
Gene: ENSMUSG00000039741
AA Change: S2383P

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

probably damaging
Transcript: ENSMUST00000118987
AA Change: S2383P

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

SMART Domains

Protein: ENSMUSP00000112784
Gene: ENSMUSG00000039741
AA Change: S2383P

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

probably damaging
Transcript: ENSMUST00000122148
AA Change: S2383P

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

SMART Domains

Protein: ENSMUSP00000112827
Gene: ENSMUSG00000039741
AA Change: S2383P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	T	9: 46,310,313	W11*	probably null	Het
A2ml1	A	G	6: 128,569,964	S401P	probably damaging	Het
Adamtsl1	T	A	4: 86,277,121	Y592N	probably benign	Het
Adh6b	C	T	3: 138,352,785	T76I	probably damaging	Het
Aebp2	C	A	6: 140,677,411	P503Q	probably benign	Het
Ankrd2	A	G	19: 42,040,400	D134G		Het
Atf7ip	T	C	6: 136,561,241	S491P	probably damaging	Het
Atp1a3	T	C	7: 24,981,566	D832G	probably benign	Het
Atrnl1	G	A	19: 57,654,846	V389I	probably benign	Het
BC051142	A	T	17: 34,437,717	I103F	unknown	Het
Brd9	A	G	13: 73,944,767	D292G	possibly damaging	Het
Cacna1e	G	T	1: 154,472,673	Q781K	probably benign	Het
Ccdc9	T	C	7: 16,284,566		probably benign	Het
Cdc42ep4	C	G	11: 113,728,540	E342Q	probably damaging	Het
Celf3	C	T	3: 94,480,283	T54M	probably damaging	Het
Cenpn	T	C	8: 116,937,269	Y267H	probably damaging	Het
Chrnb4	T	C	9: 55,035,055	T312A	probably benign	Het
Clcn3	T	A	8: 60,929,487	T383S	probably damaging	Het
Cln3	T	C	7: 126,575,070	Q327R	probably damaging	Het
Cnep1r1	T	C	8: 88,125,133	L50P	probably damaging	Het
Cnot6	T	C	11: 49,675,317	N512S	probably benign	Het
Col7a1	T	A	9: 108,982,465		probably null	Het
Cryba4	C	T	5: 112,251,103	R25Q	probably damaging	Het
Dnah5	A	G	15: 28,290,243	I1260V	probably null	Het
Dock2	G	T	11: 34,720,951	T195K	probably benign	Het
Dpp9	A	T	17: 56,190,012	I740N	possibly damaging	Het
Fbxl21	A	T	13: 56,526,928	N31Y	probably benign	Het
Frat1	G	A	19: 41,830,520	R118Q	possibly damaging	Het
Gna11	A	G	10: 81,531,374	F228S		Het
Golgb1	A	T	16: 36,915,793	M1842L	probably benign	Het
Got1	A	T	19: 43,503,030	M327K	probably damaging	Het
Hexa	T	A	9: 59,563,299	L468Q	probably damaging	Het
Hist1h4i	A	G	13: 22,041,244	I27T	probably damaging	Het
Ift57	G	A	16: 49,706,128	V178I	probably benign	Het
Kbtbd13	T	C	9: 65,391,475	T60A	probably benign	Het
Klk5	A	G	7: 43,847,225	T194A	probably damaging	Het
Krtap16-3	C	A	16: 88,962,778	G16C	unknown	Het
Lamb3	T	C	1: 193,332,449	S639P	probably benign	Het
Mapt	C	A	11: 104,298,702	P182Q	probably benign	Het
Mcf2l	A	G	8: 12,973,071	T86A	probably damaging	Het
Mecom	G	T	3: 29,987,071	H125N	probably benign	Het
Med18	T	C	4: 132,459,936	H84R	probably benign	Het
Muc2	A	G	7: 141,753,702	Y798C		Het
Mycbp	T	C	4: 123,905,267	Y17H	probably damaging	Het
Nacad	C	T	11: 6,601,272	V640M	possibly damaging	Het
Ncoa1	C	T	12: 4,270,794	V1092I	probably damaging	Het
Nomo1	A	G	7: 46,066,218	E696G	probably damaging	Het
Notch4	G	A	17: 34,575,470	C741Y	probably damaging	Het
Olfr212	C	T	6: 116,516,736	Q320*	probably null	Het
Olfr978	A	G	9: 39,994,682	N291D	probably damaging	Het
Osbpl10	C	A	9: 115,207,624	H229Q	probably damaging	Het
Pif1	A	T	9: 65,589,711		probably null	Het
Plk2	T	G	13: 110,396,588		probably null	Het
Ppp1r42	T	C	1: 9,995,183	H172R	probably benign	Het
Ring1	A	G	17: 34,021,714	I363T	possibly damaging	Het
Rnf168	T	G	16: 32,299,045	Y475D	probably damaging	Het
Sbf2	T	A	7: 110,314,053	K1671N	probably benign	Het
Sema6d	A	G	2: 124,654,189	N51S	probably damaging	Het
Setx	C	A	2: 29,146,493	Q997K	possibly damaging	Het
Skint5	T	G	4: 113,567,965	Q1088P	unknown	Het
Slc22a27	T	C	19: 7,865,754	D528G	probably damaging	Het
Slc6a7	T	A	18: 61,007,442	K173*	probably null	Het
Smc2	T	C	4: 52,457,379	F380L	probably benign	Het
Spata31d1a	T	C	13: 59,701,984	M777V	probably benign	Het
Stkld1	A	T	2: 26,947,295	N319I	possibly damaging	Het
Tanc2	T	C	11: 105,909,031	V93A		Het
Tbx20	T	C	9: 24,750,277		probably null	Het
Trbv20	G	A	6: 41,188,781	V47I	probably benign	Het
Trip4	A	T	9: 65,874,873	C192*	probably null	Het
Tulp2	A	G	7: 45,518,581		probably null	Het
Ush2a	C	A	1: 188,957,493	P5084Q	probably benign	Het
Virma	T	C	4: 11,518,927	Y675H	probably damaging	Het
Vmn2r102	T	A	17: 19,677,831	N369K	probably benign	Het
Vmn2r59	A	T	7: 42,045,809	M393K	probably damaging	Het
Vmn2r69	GAAAA	GAAAAA	7: 85,411,560		probably null	Het
Xpot	A	G	10: 121,613,506	S30P	probably benign	Het
Zfp947	T	C	17: 22,145,616	Y359C	probably benign	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
IGL02963:Bahcc1	APN	11	120274932	missense	possibly damaging	0.86
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
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
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
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

Predicted Primers

PCR Primer
(F):5'- CACTGCCCTGTGATAGTGAC -3'
(R):5'- TTGGATTTGCTACCACTGGG -3'

Sequencing Primer
(F):5'- TGTGATAGTGACTGCCCCAG -3'
(R):5'- ATTTGCTACCACTGGGGCTGG -3'

Posted On

2019-10-17