Mutagenetix > Incidental Mutation

Incidental Mutation 'R0040:Bahcc1'

64685

Institutional Source

Beutler Lab

Gene Symbol

Bahcc1

Ensembl Gene

ENSMUSG00000039741

Gene Name

BAH domain and coiled-coil containing 1

Synonyms

MMRRC Submission

038334-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.838) question?

Stock #

R0040 (G1)

Quality Score

122

Status

Validated

Chromosome

Chromosomal Location

120123773-120183108 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120159196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 141 (D141G)

Ref Sequence

ENSEMBL: ENSMUSP00000112827 (fasta)

Gene Model

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

AlphaFold

Q3UHR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000044985
AA Change: D141G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043643
Gene: ENSMUSG00000039741
AA Change: D141G

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: D141G

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

SMART Domains

Protein: ENSMUSP00000112784
Gene: ENSMUSG00000039741
AA Change: D141G

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: D141G

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

SMART Domains

Protein: ENSMUSP00000112827
Gene: ENSMUSG00000039741
AA Change: D141G

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

Meta Mutation Damage Score

0.1541

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 93.6%

Validation Efficiency

100% (88/88)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Antxr2	G	A	5: 98,086,284 (GRCm39)	T441I	possibly damaging	Het
Apcs	A	G	1: 172,722,023 (GRCm39)	Y108H	probably benign	Het
Atad5	A	G	11: 79,988,840 (GRCm39)	T666A	probably benign	Het
Atcay	C	T	10: 81,046,353 (GRCm39)		probably null	Het
Ceacam10	A	G	7: 24,477,689 (GRCm39)	Y68C	probably damaging	Het
Cfap54	T	A	10: 92,812,901 (GRCm39)	Q1344L	probably benign	Het
Cyb5r4	A	G	9: 86,948,795 (GRCm39)		probably null	Het
Cyp2b9	G	T	7: 25,872,899 (GRCm39)	S14I	possibly damaging	Het
Dusp12	A	G	1: 170,708,226 (GRCm39)	Y164H	probably damaging	Het
Eml2	T	C	7: 18,930,539 (GRCm39)	V373A	possibly damaging	Het
Fat1	A	G	8: 45,479,441 (GRCm39)	D2829G	probably damaging	Het
Fbxl13	T	C	5: 21,691,371 (GRCm39)	T671A	probably damaging	Het
Fbxo28	G	T	1: 182,153,805 (GRCm39)		probably benign	Het
Fbxo44	A	G	4: 148,243,152 (GRCm39)	L89P	probably damaging	Het
Fndc3b	T	A	3: 27,610,266 (GRCm39)		probably null	Het
Gm9955	G	T	18: 24,842,209 (GRCm39)		probably benign	Het
Gprc6a	T	A	10: 51,491,080 (GRCm39)	K819*	probably null	Het
Gxylt1	A	T	15: 93,152,436 (GRCm39)		probably benign	Het
Hspa12a	T	C	19: 58,788,056 (GRCm39)	T589A	probably benign	Het
Idh2	A	G	7: 79,747,570 (GRCm39)	S317P	probably damaging	Het
Ifi30	T	C	8: 71,216,421 (GRCm39)		probably null	Het
Ifna16	G	A	4: 88,594,867 (GRCm39)	A76V	probably benign	Het
Itpr2	C	T	6: 146,246,638 (GRCm39)	E1127K	probably damaging	Het
Kank4	A	G	4: 98,667,457 (GRCm39)	V330A	probably benign	Het
Kpna1	T	A	16: 35,843,611 (GRCm39)	D328E	probably damaging	Het
Krt71	T	A	15: 101,646,868 (GRCm39)	H280L	possibly damaging	Het
Lrrc37	G	A	11: 103,433,816 (GRCm39)	P942S	probably damaging	Het
Mapt	A	G	11: 104,196,224 (GRCm39)	M446V	probably damaging	Het
Med1	C	T	11: 98,057,081 (GRCm39)		probably null	Het
Mif	T	A	10: 75,695,614 (GRCm39)	H63L	probably damaging	Het
Mycbp2	A	G	14: 103,461,708 (GRCm39)	V1447A	probably benign	Het
Myo1b	A	T	1: 51,821,148 (GRCm39)	I451N	probably damaging	Het
Nme2	A	T	11: 93,842,756 (GRCm39)		probably null	Het
Nubp1	A	G	16: 10,238,981 (GRCm39)	T199A	probably damaging	Het
Nup210l	T	A	3: 90,089,212 (GRCm39)	V1165D	probably damaging	Het
Nup98	T	A	7: 101,841,241 (GRCm39)	T122S	probably damaging	Het
Or14a258	A	T	7: 86,035,715 (GRCm39)	L51Q	probably benign	Het
Or1n2	T	C	2: 36,797,470 (GRCm39)	F171L	probably damaging	Het
Or5j1	C	T	2: 86,879,548 (GRCm39)	E11K	probably damaging	Het
Or6c202	T	A	10: 128,996,608 (GRCm39)	I82L	probably benign	Het
Pard3b	A	T	1: 62,676,979 (GRCm39)	Y1170F	probably damaging	Het
Pear1	T	C	3: 87,661,665 (GRCm39)	D536G	probably damaging	Het
Phrf1	G	T	7: 140,823,770 (GRCm39)	R196L	probably damaging	Het
Plxna2	G	T	1: 194,326,204 (GRCm39)	R46L	probably benign	Het
Rbm39	G	A	2: 155,990,099 (GRCm39)	T496I	possibly damaging	Het
Rpl14	C	G	9: 120,401,167 (GRCm39)	F3L	possibly damaging	Het
Rtf2	G	A	2: 172,286,616 (GRCm39)	S40N	probably damaging	Het
Runx2	G	A	17: 44,919,141 (GRCm39)	S481L	possibly damaging	Het
Sh3rf1	T	A	8: 61,782,286 (GRCm39)	Y143N	possibly damaging	Het
Siglec15	G	A	18: 78,092,092 (GRCm39)		probably benign	Het
Slc4a8	T	A	15: 100,687,727 (GRCm39)	I288N	probably damaging	Het
Ttc38	C	A	15: 85,725,690 (GRCm39)	F184L	probably damaging	Het
Vmn1r28	T	C	6: 58,242,879 (GRCm39)	Y241H	probably damaging	Het
Vmn2r110	A	T	17: 20,816,346 (GRCm39)	V59D	probably benign	Het
Wdpcp	A	G	11: 21,661,638 (GRCm39)	I303M	probably damaging	Het
Zc3h12d	G	A	10: 7,743,678 (GRCm39)	A483T	probably benign	Het
Zfp106	C	A	2: 120,362,094 (GRCm39)	K1008N	probably damaging	Het
Zfp334	A	G	2: 165,223,492 (GRCm39)	Y184H	probably benign	Het
Zfp68	G	A	5: 138,606,041 (GRCm39)	T94I	probably benign	Het
Zkscan3	A	T	13: 21,579,090 (GRCm39)		probably null	Het

Other mutations in Bahcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Bahcc1	APN	11	120,163,130 (GRCm39)	missense	probably damaging	1.00
IGL00536:Bahcc1	APN	11	120,175,871 (GRCm39)	missense	probably damaging	0.96
IGL01339:Bahcc1	APN	11	120,180,338 (GRCm39)	missense	probably damaging	1.00
IGL01695:Bahcc1	APN	11	120,167,435 (GRCm39)	missense	probably benign	0.02
IGL01744:Bahcc1	APN	11	120,162,563 (GRCm39)	missense	probably benign	0.02
IGL01769:Bahcc1	APN	11	120,171,030 (GRCm39)	splice site	probably benign
IGL01982:Bahcc1	APN	11	120,178,299 (GRCm39)	missense	probably damaging	1.00
IGL02341:Bahcc1	APN	11	120,163,346 (GRCm39)	missense	probably damaging	1.00
IGL02535:Bahcc1	APN	11	120,178,362 (GRCm39)	missense	possibly damaging	0.88
IGL02559:Bahcc1	APN	11	120,175,998 (GRCm39)	missense	probably damaging	0.97
IGL02579:Bahcc1	APN	11	120,176,175 (GRCm39)	splice site	probably benign
IGL02609:Bahcc1	APN	11	120,180,224 (GRCm39)	missense	possibly damaging	0.93
IGL02678:Bahcc1	APN	11	120,163,697 (GRCm39)	missense	probably damaging	1.00
IGL02800:Bahcc1	APN	11	120,163,760 (GRCm39)	missense	probably damaging	1.00
IGL02963:Bahcc1	APN	11	120,165,758 (GRCm39)	missense	possibly damaging	0.86
IGL03128:Bahcc1	APN	11	120,159,260 (GRCm39)	splice site	probably benign
IGL03242:Bahcc1	APN	11	120,159,126 (GRCm39)	splice site	probably benign
IGL03248:Bahcc1	APN	11	120,159,235 (GRCm39)	missense	probably damaging	1.00
Dimensionality	UTSW	11	120,163,835 (GRCm39)	missense	probably damaging	1.00
G1citation:Bahcc1	UTSW	11	120,178,547 (GRCm39)	missense	probably damaging	1.00
R0019:Bahcc1	UTSW	11	120,180,597 (GRCm39)	missense	probably damaging	1.00
R0040:Bahcc1	UTSW	11	120,159,196 (GRCm39)	missense	probably damaging	1.00
R0148:Bahcc1	UTSW	11	120,159,230 (GRCm39)	missense	probably damaging	1.00
R0164:Bahcc1	UTSW	11	120,175,900 (GRCm39)	splice site	probably benign
R0321:Bahcc1	UTSW	11	120,164,251 (GRCm39)	critical splice donor site	probably null
R0671:Bahcc1	UTSW	11	120,178,146 (GRCm39)	missense	probably damaging	1.00
R0737:Bahcc1	UTSW	11	120,163,667 (GRCm39)	missense	probably damaging	1.00
R1452:Bahcc1	UTSW	11	120,173,065 (GRCm39)	splice site	probably benign
R1570:Bahcc1	UTSW	11	120,163,009 (GRCm39)	missense	possibly damaging	0.74
R1914:Bahcc1	UTSW	11	120,176,225 (GRCm39)	missense	probably damaging	1.00
R2010:Bahcc1	UTSW	11	120,163,604 (GRCm39)	missense	probably damaging	1.00
R2075:Bahcc1	UTSW	11	120,162,515 (GRCm39)	missense	probably damaging	1.00
R2085:Bahcc1	UTSW	11	120,178,908 (GRCm39)	missense	probably damaging	1.00
R3552:Bahcc1	UTSW	11	120,167,598 (GRCm39)	missense	possibly damaging	0.90
R3711:Bahcc1	UTSW	11	120,165,923 (GRCm39)	missense	probably benign	0.27
R3804:Bahcc1	UTSW	11	120,174,184 (GRCm39)	missense	probably benign	0.01
R4349:Bahcc1	UTSW	11	120,150,027 (GRCm39)	missense	probably damaging	1.00
R4557:Bahcc1	UTSW	11	120,165,914 (GRCm39)	missense	probably damaging	1.00
R4801:Bahcc1	UTSW	11	120,173,051 (GRCm39)	missense	probably benign	0.00
R4802:Bahcc1	UTSW	11	120,173,051 (GRCm39)	missense	probably benign	0.00
R4908:Bahcc1	UTSW	11	120,178,580 (GRCm39)	missense	probably benign	0.36
R4941:Bahcc1	UTSW	11	120,177,491 (GRCm39)	missense	probably benign
R5217:Bahcc1	UTSW	11	120,165,285 (GRCm39)	nonsense	probably null
R5241:Bahcc1	UTSW	11	120,162,229 (GRCm39)	missense	probably damaging	1.00
R5432:Bahcc1	UTSW	11	120,178,814 (GRCm39)	missense	probably benign	0.02
R5696:Bahcc1	UTSW	11	120,164,813 (GRCm39)	missense	probably damaging	1.00
R5724:Bahcc1	UTSW	11	120,176,192 (GRCm39)	missense	possibly damaging	0.78
R5725:Bahcc1	UTSW	11	120,165,714 (GRCm39)	missense	probably benign
R5788:Bahcc1	UTSW	11	120,177,178 (GRCm39)	missense	probably damaging	1.00
R5893:Bahcc1	UTSW	11	120,176,256 (GRCm39)	missense	probably damaging	0.99
R5900:Bahcc1	UTSW	11	120,175,319 (GRCm39)	missense	probably damaging	1.00
R6014:Bahcc1	UTSW	11	120,180,615 (GRCm39)	missense	probably benign	0.00
R6058:Bahcc1	UTSW	11	120,178,211 (GRCm39)	missense	probably damaging	1.00
R6107:Bahcc1	UTSW	11	120,163,714 (GRCm39)	missense	probably benign	0.00
R6302:Bahcc1	UTSW	11	120,167,634 (GRCm39)	missense	probably damaging	1.00
R6525:Bahcc1	UTSW	11	120,176,048 (GRCm39)	missense	probably damaging	1.00
R6550:Bahcc1	UTSW	11	120,167,477 (GRCm39)	missense	possibly damaging	0.94
R6822:Bahcc1	UTSW	11	120,178,547 (GRCm39)	missense	probably damaging	1.00
R6836:Bahcc1	UTSW	11	120,162,583 (GRCm39)	nonsense	probably null
R6846:Bahcc1	UTSW	11	120,162,422 (GRCm39)	missense	possibly damaging	0.92
R6916:Bahcc1	UTSW	11	120,163,835 (GRCm39)	missense	probably damaging	1.00
R6966:Bahcc1	UTSW	11	120,173,985 (GRCm39)	missense	probably damaging	0.99
R7097:Bahcc1	UTSW	11	120,163,472 (GRCm39)	missense	possibly damaging	0.87
R7289:Bahcc1	UTSW	11	120,171,000 (GRCm39)	missense	probably benign	0.08
R7441:Bahcc1	UTSW	11	120,177,132 (GRCm39)	missense	probably damaging	0.99
R7520:Bahcc1	UTSW	11	120,167,031 (GRCm39)	missense	possibly damaging	0.47
R7556:Bahcc1	UTSW	11	120,178,589 (GRCm39)	missense	probably damaging	1.00
R7672:Bahcc1	UTSW	11	120,174,172 (GRCm39)	missense	possibly damaging	0.63
R7791:Bahcc1	UTSW	11	120,159,203 (GRCm39)	missense	probably damaging	1.00
R7794:Bahcc1	UTSW	11	120,163,507 (GRCm39)	nonsense	probably null
R7802:Bahcc1	UTSW	11	120,165,518 (GRCm39)	missense	probably benign	0.03
R7946:Bahcc1	UTSW	11	120,163,325 (GRCm39)	missense	probably benign
R7985:Bahcc1	UTSW	11	120,163,717 (GRCm39)	missense	probably damaging	0.97
R8128:Bahcc1	UTSW	11	120,163,216 (GRCm39)	nonsense	probably null
R8131:Bahcc1	UTSW	11	120,163,664 (GRCm39)	missense	probably benign	0.01
R8353:Bahcc1	UTSW	11	120,165,251 (GRCm39)	missense	probably damaging	1.00
R8439:Bahcc1	UTSW	11	120,165,415 (GRCm39)	missense	probably benign	0.01
R8710:Bahcc1	UTSW	11	120,174,953 (GRCm39)	missense	probably damaging	1.00
R8799:Bahcc1	UTSW	11	120,177,173 (GRCm39)	missense	probably damaging	1.00
R8810:Bahcc1	UTSW	11	120,164,587 (GRCm39)	missense	possibly damaging	0.76
R8920:Bahcc1	UTSW	11	120,175,331 (GRCm39)	missense	probably damaging	1.00
R8924:Bahcc1	UTSW	11	120,167,591 (GRCm39)	missense	probably benign	0.09
R9014:Bahcc1	UTSW	11	120,173,048 (GRCm39)	missense	probably benign
R9014:Bahcc1	UTSW	11	120,163,715 (GRCm39)	missense	probably benign	0.00
R9195:Bahcc1	UTSW	11	120,167,337 (GRCm39)	missense	probably benign
R9216:Bahcc1	UTSW	11	120,177,514 (GRCm39)	missense	probably damaging	1.00
R9328:Bahcc1	UTSW	11	120,165,885 (GRCm39)	missense	possibly damaging	0.61
R9392:Bahcc1	UTSW	11	120,163,513 (GRCm39)	nonsense	probably null
R9562:Bahcc1	UTSW	11	120,150,035 (GRCm39)	missense	possibly damaging	0.87
R9680:Bahcc1	UTSW	11	120,163,286 (GRCm39)	missense	possibly damaging	0.92
R9797:Bahcc1	UTSW	11	120,159,147 (GRCm39)	nonsense	probably null
X0026:Bahcc1	UTSW	11	120,162,578 (GRCm39)	missense	probably benign	0.20
Z1176:Bahcc1	UTSW	11	120,175,220 (GRCm39)	missense	probably benign	0.00
Z1176:Bahcc1	UTSW	11	120,167,435 (GRCm39)	missense	possibly damaging	0.89
Z1177:Bahcc1	UTSW	11	120,163,747 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- TCAGCAATTCAATTTGTGCTGCACC -3'
(R):5'- CAGGTCAGGGCATTCTCAATGAGC -3'

Sequencing Primer
(F):5'- CACCGGAGGGATGGTATTAGTC -3'
(R):5'- cacctgcaccctgcacc -3'

Posted On

2013-08-06