Mutagenetix > Incidental Mutation

Incidental Mutation 'R1570:Bahcc1'

177205

Institutional Source

Beutler Lab

Gene Symbol

Bahcc1

Ensembl Gene

ENSMUSG00000039741

Gene Name

BAH domain and coiled-coil containing 1

Synonyms

MMRRC Submission

039609-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.838) question?

Stock #

R1570 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120123773-120183108 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120163009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 436 (A436T)

Ref Sequence

ENSEMBL: ENSMUSP00000043643 (fasta)

Gene Model

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

AlphaFold

Q3UHR0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044985
AA Change: A436T

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000043643
Gene: ENSMUSG00000039741
AA Change: A436T

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: A436T

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112784
Gene: ENSMUSG00000039741
AA Change: A436T

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: A436T

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112827
Gene: ENSMUSG00000039741
AA Change: A436T

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

Meta Mutation Damage Score

0.0727

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.0%

Validation Efficiency

93% (77/83)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apobec1	A	G	6: 122,568,044 (GRCm39)		probably null	Het
Arhgap21	G	T	2: 20,885,651 (GRCm39)	Q348K	probably benign	Het
Arl5c	A	G	11: 97,883,213 (GRCm39)	V129A	probably benign	Het
Armh1	A	G	4: 117,087,189 (GRCm39)	S159P	probably damaging	Het
Asb8	A	G	15: 98,034,309 (GRCm39)	L82P	probably damaging	Het
Btc	T	C	5: 91,550,576 (GRCm39)	D2G	unknown	Het
C1s2	G	A	6: 124,602,723 (GRCm39)	T490M	probably benign	Het
Caap1	C	T	4: 94,444,814 (GRCm39)	G43D	probably benign	Het
Ccr5	T	C	9: 123,925,000 (GRCm39)	V201A	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdhr5	C	A	7: 140,851,682 (GRCm39)	G541C	probably damaging	Het
Cep170	A	G	1: 176,583,367 (GRCm39)	I1004T	possibly damaging	Het
Chd9	A	T	8: 91,763,170 (GRCm39)	M2332L	probably benign	Het
Clk1	T	A	1: 58,453,584 (GRCm39)	H334L	probably benign	Het
Cyp4b1	G	A	4: 115,493,160 (GRCm39)	S228F	probably benign	Het
Dnah9	T	C	11: 66,003,156 (GRCm39)	N883D	probably benign	Het
Dync2h1	A	G	9: 7,176,926 (GRCm39)	L11P	probably benign	Het
Ephx4	A	G	5: 107,567,717 (GRCm39)	E225G	probably damaging	Het
Erich6	C	T	3: 58,538,080 (GRCm39)		probably null	Het
Espl1	A	G	15: 102,206,802 (GRCm39)	T89A	probably damaging	Het
Evi2	T	A	11: 79,407,076 (GRCm39)	K166N	possibly damaging	Het
Glrx5	A	G	12: 104,999,127 (GRCm39)	T57A	possibly damaging	Het
Gnptab	T	A	10: 88,255,316 (GRCm39)	V222E	probably damaging	Het
Gpr155	T	C	2: 73,200,382 (GRCm39)	Y375C	possibly damaging	Het
Hsd11b1	C	G	1: 192,922,635 (GRCm39)	E141Q	probably damaging	Het
Ildr2	T	C	1: 166,131,154 (GRCm39)	F337L	probably damaging	Het
Ino80	C	T	2: 119,277,509 (GRCm39)	R322Q	possibly damaging	Het
Lcp2	A	G	11: 34,039,601 (GRCm39)	D467G	probably benign	Het
Lmbr1	A	G	5: 29,459,556 (GRCm39)	I229T	probably damaging	Het
Lnpep	A	T	17: 17,799,418 (GRCm39)	M79K	probably damaging	Het
Lpin1	T	C	12: 16,610,999 (GRCm39)	Q564R	possibly damaging	Het
Lpin2	T	A	17: 71,552,176 (GRCm39)	L794*	probably null	Het
Lrrc37	A	G	11: 103,500,764 (GRCm39)	Y597H	possibly damaging	Het
Lrrc45	T	C	11: 120,610,935 (GRCm39)		probably null	Het
Mtus1	A	G	8: 41,529,278 (GRCm39)	S751P	probably damaging	Het
Nbr1	T	C	11: 101,455,656 (GRCm39)		probably benign	Het
Nup107	A	G	10: 117,599,749 (GRCm39)	F592S	possibly damaging	Het
Nup133	T	A	8: 124,675,915 (GRCm39)	M1L	possibly damaging	Het
Or2a20	T	C	6: 43,194,285 (GRCm39)	V146A	probably benign	Het
Or3a10	A	C	11: 73,935,633 (GRCm39)	F156V	possibly damaging	Het
Or4n4	T	G	14: 50,518,981 (GRCm39)	H243P	probably damaging	Het
Or4p8	A	C	2: 88,727,290 (GRCm39)	I217S	probably damaging	Het
Or52b4i	C	A	7: 102,191,177 (GRCm39)	H11Q	probably damaging	Het
Or8i2	A	T	2: 86,852,616 (GRCm39)	S91T	probably benign	Het
Otud7b	T	C	3: 96,063,208 (GRCm39)	C816R	probably damaging	Het
Pi4k2a	T	C	19: 42,089,083 (GRCm39)	V148A	probably benign	Het
Pih1d2	T	C	9: 50,532,479 (GRCm39)	M195T	probably benign	Het
Pira13	T	C	7: 3,826,060 (GRCm39)	E311G	probably benign	Het
Plpp6	T	C	19: 28,942,178 (GRCm39)	F260L	probably damaging	Het
R3hcc1l	A	T	19: 42,570,393 (GRCm39)	T663S	probably damaging	Het
Rnf25	T	C	1: 74,634,426 (GRCm39)	E199G	probably damaging	Het
Scin	G	A	12: 40,134,380 (GRCm39)		probably benign	Het
Serpinb1c	A	T	13: 33,080,973 (GRCm39)	S37T	probably benign	Het
Snx19	A	G	9: 30,339,639 (GRCm39)	D259G	probably damaging	Het
Sorcs3	A	G	19: 48,752,620 (GRCm39)	K805R	probably damaging	Het
Sox6	C	A	7: 115,376,358 (GRCm39)	G125W	probably damaging	Het
Spink5	A	G	18: 44,100,174 (GRCm39)	I64V	probably benign	Het
Spmip10	T	A	18: 56,727,606 (GRCm39)	D101E	probably benign	Het
St6galnac1	A	G	11: 116,657,474 (GRCm39)		probably benign	Het
Sult1c2	T	C	17: 54,143,991 (GRCm39)	I105V	probably benign	Het
Tacr3	T	G	3: 134,535,517 (GRCm39)	S162A	probably damaging	Het
Ttc6	T	C	12: 57,721,549 (GRCm39)	S1013P	probably damaging	Het
Zbtb11	C	A	16: 55,811,178 (GRCm39)	N445K	probably benign	Het
Zfp423	A	C	8: 88,509,186 (GRCm39)	V261G	probably benign	Het
Zfp59	T	C	7: 27,553,016 (GRCm39)	V156A	probably benign	Het
Zscan2	C	A	7: 80,513,141 (GRCm39)	A42E	probably damaging	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
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
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'- GCAGATGCTGCATCATGCTGTATCC -3'
(R):5'- TAGCCACTTTTGTCCAGACCGC -3'

Sequencing Primer
(F):5'- ATGCTGTATCCTACACAGTACC -3'
(R):5'- AGACCGCCTTTGGGAAGTC -3'

Posted On

2014-04-24