Mutagenetix > Incidental Mutations

Incidental Mutation 'R7097:Bahcc1'

550576

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: 0.841) question?

Stock #

R7097 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120232947-120292296 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120272646 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 590 (V590A)

Ref Sequence

ENSEMBL: ENSMUSP00000112827 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044985
AA Change: V590A

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000043643
Gene: ENSMUSG00000039741
AA Change: V590A

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: V590A

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112784
Gene: ENSMUSG00000039741
AA Change: V590A

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: V590A

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112827
Gene: ENSMUSG00000039741
AA Change: V590A

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (75/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	G	17: 9,005,220	N435S	probably damaging	Het
Aip	A	T	19: 4,115,381	V195E	probably benign	Het
Amer3	A	T	1: 34,588,788	I703F	probably benign	Het
Amfr	T	C	8: 94,012,009	E7G	probably benign	Het
Angel1	A	G	12: 86,726,384	S4P	probably damaging	Het
Atp2c1	A	G	9: 105,464,651	I146T	probably damaging	Het
Atp6v0e	A	G	17: 26,695,416	T72A	probably benign	Het
Bcl6	A	G	16: 23,972,614	V330A	possibly damaging	Het
Bcl6	T	C	16: 23,972,902	D234G	probably damaging	Het
Btaf1	C	T	19: 36,949,102	T58I	probably damaging	Het
Ccdc175	A	T	12: 72,128,409		probably null	Het
Cdca4	C	A	12: 112,821,569	V180L	probably benign	Het
Ces1g	C	A	8: 93,317,037	G425C	possibly damaging	Het
Chl1	T	C	6: 103,706,448	L745P	probably damaging	Het
Clec4g	T	A	8: 3,719,518	T42S	possibly damaging	Het
Ctsg	A	C	14: 56,100,032	I238S	probably damaging	Het
Cyb5rl	A	T	4: 107,087,316	E41V	unknown	Het
Dcdc2a	A	G	13: 25,107,698	E222G	probably benign	Het
Dnaaf1	G	T	8: 119,596,799	G509V	possibly damaging	Het
Dnah5	A	G	15: 28,453,264	I4394V	probably benign	Het
Dot1l	T	G	10: 80,790,726	S1260R	probably damaging	Het
Dst	T	G	1: 34,169,260	I1089S	probably damaging	Het
Eps8l3	A	G	3: 107,884,485		probably null	Het
Fam135b	A	G	15: 71,622,068	V4A	possibly damaging	Het
Fnip2	T	C	3: 79,481,006	E806G	probably benign	Het
Fryl	T	A	5: 73,073,908	I1609F	probably benign	Het
Gdi1	G	A	X: 74,306,855	R55H	probably benign	Het
Gm11639	A	T	11: 105,008,961	I4350F	possibly damaging	Het
Gsn	A	T	2: 35,295,049	K339*	probably null	Het
Hecw2	T	A	1: 53,865,124	Y1155F	possibly damaging	Het
Kif20b	T	A	19: 34,974,492	N1723K	probably damaging	Het
Kif2b	T	C	11: 91,576,824	D211G	probably benign	Het
Lhfpl4	C	T	6: 113,176,671	V140I	probably benign	Het
Med16	C	T	10: 79,903,343	G203D	probably damaging	Het
Mrgpra3	T	A	7: 47,589,641	Y179F	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,634,450		probably null	Het
Myo18b	A	G	5: 112,874,405	S374P	unknown	Het
Myoz1	A	G	14: 20,649,409	I287T	possibly damaging	Het
Ncoa6	T	C	2: 155,438,063	D11G	probably benign	Het
Nlrp9c	A	G	7: 26,385,621	Y178H	probably damaging	Het
Nmur1	T	C	1: 86,387,508	T212A	probably damaging	Het
Oacyl	A	G	18: 65,720,252	D143G	probably benign	Het
Obox5	A	G	7: 15,758,807	Y229C	probably damaging	Het
Olfr340	A	G	2: 36,452,690	Y35C	probably damaging	Het
Olfr347	G	T	2: 36,734,424	M34I	probably benign	Het
Olfr54	C	A	11: 51,027,601	L200I	probably benign	Het
Olfr891	A	T	9: 38,180,336	C162*	probably null	Het
Olfr934	A	T	9: 38,982,618	M142K	probably benign	Het
Pcdhb17	A	C	18: 37,486,513	N452T	probably benign	Het
Pear1	T	G	3: 87,751,445	H901P	probably benign	Het
Pi16	A	G	17: 29,326,339	Y192C	probably damaging	Het
Pip5k1b	T	G	19: 24,358,060	E362D	probably damaging	Het
Pla2g5	T	C	4: 138,804,519	D58G	probably damaging	Het
Pole	T	A	5: 110,325,102		probably null	Het
Prdm16	G	T	4: 154,345,468	T348K	probably damaging	Het
Prkdc	T	A	16: 15,689,343	F896I	probably damaging	Het
Prmt7	T	C	8: 106,235,100	F215S	unknown	Het
Prss23	T	A	7: 89,510,184	T226S	probably damaging	Het
Ptpn14	G	A	1: 189,863,398	W739*	probably null	Het
Rfx5	G	T	3: 94,956,539	G135C	probably damaging	Het
Scmh1	A	G	4: 120,525,055	H573R	probably benign	Het
Serpina5	G	T	12: 104,102,295		probably null	Het
Sh3rf2	G	A	18: 42,104,162		probably null	Het
Slc38a2	T	C	15: 96,693,301	M229V	probably damaging	Het
Slc6a17	C	G	3: 107,493,148	G222R	probably damaging	Het
Sp110	C	T	1: 85,579,685	G367D	possibly damaging	Het
Srcap	C	A	7: 127,539,041	L1128M	probably damaging	Het
Tmem189	C	G	2: 167,661,478	A7P	probably benign	Het
Tpra1	T	A	6: 88,908,294	I76N	probably damaging	Het
Trav6-4	A	T	14: 53,454,592	Y52F	probably benign	Het
Trp63	C	A	16: 25,820,477	H138Q	probably damaging	Het
Trub2	A	G	2: 29,779,826	V177A	possibly damaging	Het
Ugt2a2	T	C	5: 87,460,396	D528G	possibly damaging	Het
Wnk2	C	A	13: 49,102,838	R269L	possibly damaging	Het
Zc3h12c	T	A	9: 52,115,926	Q731L	possibly damaging	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
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
X0026:Bahcc1	UTSW	11	120271752	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- GCCTGCTGCACTTTAGACAAAG -3'
(R):5'- AAACTTGGCTTCCTGCTGGAC -3'

Sequencing Primer
(F):5'- CTTTAGACAAAGTGGCCAACAAAG -3'
(R):5'- ACGCAGCTGGCTTTGAG -3'

Posted On

2019-05-15