Mutagenetix > Incidental Mutation

Incidental Mutation 'R5241:Bahcc1'

400841

Institutional Source

Beutler Lab

Gene Symbol

Bahcc1

Ensembl Gene

ENSMUSG00000039741

Gene Name

BAH domain and coiled-coil containing 1

Synonyms

MMRRC Submission

042812-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.838) question?

Stock #

R5241 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120123773-120183108 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 120162229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 176 (P176T)

Ref Sequence

ENSEMBL: ENSMUSP00000043643 (fasta)

Gene Model

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

AlphaFold

Q3UHR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000044985
AA Change: P176T

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

SMART Domains

Protein: ENSMUSP00000043643
Gene: ENSMUSG00000039741
AA Change: P176T

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: P176T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112784
Gene: ENSMUSG00000039741
AA Change: P176T

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: P176T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112827
Gene: ENSMUSG00000039741
AA Change: P176T

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

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.8%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930033H14Rik	A	G	10: 69,048,581 (GRCm39)		probably null	Het
Adgrb3	T	C	1: 25,150,871 (GRCm39)	T881A	possibly damaging	Het
Adgrv1	A	T	13: 81,637,048 (GRCm39)	C3464*	probably null	Het
Afp	A	G	5: 90,649,473 (GRCm39)	M347V	probably benign	Het
Apc2	A	G	10: 80,148,068 (GRCm39)	T1041A	probably benign	Het
Atl1	T	C	12: 70,005,887 (GRCm39)	S398P	possibly damaging	Het
Atp8b4	G	A	2: 126,225,646 (GRCm39)	P528L	probably benign	Het
Bsnd	A	G	4: 106,345,182 (GRCm39)	V88A	probably benign	Het
Dnah7c	T	A	1: 46,569,660 (GRCm39)	F687Y	probably benign	Het
Dok6	T	C	18: 89,616,913 (GRCm39)	I23M	possibly damaging	Het
Fcgbp	A	T	7: 27,784,624 (GRCm39)	D228V	probably damaging	Het
Gatad2a	G	A	8: 70,370,667 (GRCm39)	Q107*	probably null	Het
Glis3	G	T	19: 28,327,423 (GRCm39)	T663K	probably benign	Het
Gm10784	T	A	13: 50,099,129 (GRCm39)		noncoding transcript	Het
Gsdmc2	C	T	15: 63,696,743 (GRCm39)	R476H	probably benign	Het
Gsdmc3	A	G	15: 63,735,995 (GRCm39)	S202P	possibly damaging	Het
Map3k8	T	C	18: 4,340,750 (GRCm39)	E188G	probably damaging	Het
Mccc1	T	A	3: 36,028,345 (GRCm39)	Q487L	probably benign	Het
Msantd1	A	G	5: 35,078,813 (GRCm39)	D116G	probably damaging	Het
Myh1	T	A	11: 67,095,275 (GRCm39)	S212T	probably benign	Het
Nr1h4	A	G	10: 89,319,351 (GRCm39)	Y158H	probably damaging	Het
Or4p19	T	C	2: 88,242,442 (GRCm39)	T187A	possibly damaging	Het
Or51f1e	T	C	7: 102,747,524 (GRCm39)	V192A	probably benign	Het
Or6k8-ps1	T	A	1: 173,979,667 (GRCm39)	I195N	probably benign	Het
Pcnt	A	T	10: 76,269,451 (GRCm39)	H272Q	probably benign	Het
Pdia5	T	C	16: 35,250,145 (GRCm39)	N242S	probably benign	Het
Pkd1l2	A	T	8: 117,761,857 (GRCm39)	D1441E	probably damaging	Het
Runx2	G	T	17: 44,950,664 (GRCm39)	Y203*	probably null	Het
Sdr9c7	T	G	10: 127,745,659 (GRCm39)	I257S	probably benign	Het
Slitrk1	A	G	14: 109,150,444 (GRCm39)	M89T	probably benign	Het
St14	G	T	9: 31,011,714 (GRCm39)	C397*	probably null	Het
Tas2r123	T	C	6: 132,824,181 (GRCm39)	I26T	probably benign	Het
Tmem144	A	T	3: 79,721,431 (GRCm39)	M329K	probably benign	Het
Tmem252	T	C	19: 24,651,491 (GRCm39)	M20T	probably benign	Het
Umodl1	T	C	17: 31,203,066 (GRCm39)	V473A	probably benign	Het
Wdr70	A	G	15: 8,108,700 (GRCm39)	C149R	probably benign	Het
Xirp2	C	T	2: 67,312,704 (GRCm39)	R58*	probably null	Het
Zer1	A	C	2: 29,994,982 (GRCm39)	L471R	probably damaging	Het
Zfp101	C	T	17: 33,601,210 (GRCm39)	C182Y	probably benign	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
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
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'- TGGCCAGCCTTCAGAAAG -3'
(R):5'- GCACCAGCTTCTGTCGATC -3'

Sequencing Primer
(F):5'- TCAGAAGAAGGTGTTAGCTCTCC -3'
(R):5'- ACTGTCTTCCTCCACAGCTGG -3'

Posted On

2016-07-06