Mutagenetix > Incidental Mutation

Incidental Mutation 'R8810:Bahcc1'

672371

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

Essential gene?

Probably essential (E-score: 0.843) question?

Stock #

R8810 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120232947-120292296 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 120273761 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 802 (P802T)

Ref Sequence

ENSEMBL: ENSMUSP00000112827 (fasta)

Gene Model

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

AlphaFold

Q3UHR0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044985
AA Change: P802T

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000043643
Gene: ENSMUSG00000039741
AA Change: P802T

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: P802T

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112784
Gene: ENSMUSG00000039741
AA Change: P802T

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: P802T

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112827
Gene: ENSMUSG00000039741
AA Change: P802T

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: 99.9%
20x: 99.6%

Validation Efficiency

99% (82/83)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 79,099,704	S1408P	probably damaging	Het
Acap3	T	C	4: 155,905,712	V783A	probably damaging	Het
Akap8	T	C	17: 32,306,530	N525S	probably damaging	Het
Aqp1	C	T	6: 55,336,621	T44M	probably damaging	Het
Arap1	T	C	7: 101,404,378	Y1305H	probably damaging	Het
Atg2a	T	G	19: 6,250,621	S743A	probably benign	Het
AW551984	G	T	9: 39,600,011	L133I	probably damaging	Het
Brd8	C	A	18: 34,609,949	V288L	probably benign	Het
Carmil2	T	C	8: 105,686,315		probably null	Het
Catspere2	G	A	1: 178,077,482	E153K	possibly damaging	Het
Ccdc162	C	T	10: 41,666,741	R379Q	probably benign	Het
Cdh16	A	G	8: 104,614,504	L116P	probably damaging	Het
Cenpj	A	T	14: 56,558,619	H260Q	possibly damaging	Het
Cenpq	A	G	17: 40,933,136	V17A	possibly damaging	Het
Cep350	T	C	1: 155,928,116	K1074E	probably damaging	Het
Chil4	C	A	3: 106,201,805	C394F	probably damaging	Het
Chst9	T	C	18: 15,717,926	I28V	probably benign	Het
Clasp2	C	A	9: 113,899,581	N873K	probably damaging	Het
Clec4b2	T	A	6: 123,181,310	M45K	probably benign	Het
Cmya5	T	A	13: 93,063,540	T3427S	possibly damaging	Het
Cnih4	A	G	1: 181,162,212	Y130C	probably damaging	Het
Cpne9	T	A	6: 113,304,545	M529K	probably damaging	Het
Ctsr	T	A	13: 61,161,825	Y190F	probably damaging	Het
Cyp2j13	G	A	4: 96,056,916	H351Y	probably benign	Het
Dixdc1	T	A	9: 50,701,965	Q230L	probably damaging	Het
Dpep1	A	T	8: 123,200,025	I226F	probably benign	Het
Ehd2	A	G	7: 15,957,678	V243A	probably benign	Het
Etnk2	T	A	1: 133,378,494	Y353N	probably benign	Het
Fgg	G	T	3: 83,013,015	G367V	probably damaging	Het
Gm11639	A	T	11: 104,914,895	N3076I	unknown	Het
Gm609	T	C	16: 45,443,836	T120A	probably benign	Het
Gm9772	T	C	17: 22,006,329	*61Q	probably null	Het
Grk5	T	G	19: 61,089,994	D496E	possibly damaging	Het
Hc	T	C	2: 35,019,523	N915S	probably benign	Het
Iah1	G	T	12: 21,317,387	Q31H	probably benign	Het
Insr	T	C	8: 3,169,714	D936G	probably benign	Het
Ints6	A	C	14: 62,702,453	V596G	probably benign	Het
Ispd	A	T	12: 36,390,482	N130Y	probably damaging	Het
Kcnj16	A	G	11: 111,024,851	D113G	possibly damaging	Het
Kdm4b	A	T	17: 56,399,771	I928F	probably damaging	Het
Lrrc41	C	T	4: 116,075,291		probably benign	Het
Lrrc8e	G	A	8: 4,235,070	V432I	probably benign	Het
Mamdc4	T	C	2: 25,568,489	E336G	probably benign	Het
Maml2	C	A	9: 13,621,622	Q711K		Het
Map3k14	T	C	11: 103,227,672	T563A	possibly damaging	Het
Mcu	T	A	10: 59,467,713	K101*	probably null	Het
Mettl22	T	A	16: 8,485,928	V286E	probably damaging	Het
Mon2	A	T	10: 123,009,611	N1396K	possibly damaging	Het
Mprip	T	C	11: 59,697,025		probably benign	Het
Mrpl51	C	T	6: 125,193,381	L117F	probably damaging	Het
Myo1d	C	A	11: 80,674,932	V356F	probably damaging	Het
Myo1d	T	A	11: 80,676,932	I241F	probably benign	Het
Naalad2	A	T	9: 18,385,934		probably benign	Het
Nacad	T	C	11: 6,602,853	T113A	probably benign	Het
Nrap	T	A	19: 56,364,411		probably benign	Het
Olfr1134	T	C	2: 87,656,247	I225V	possibly damaging	Het
Olfr1336	T	C	7: 6,460,764	L85P	probably damaging	Het
Olfr1358	G	A	10: 78,520,450	V281M	possibly damaging	Het
Olfr290	T	A	7: 84,916,418	I213N	possibly damaging	Het
Olfr30	T	C	11: 58,455,110	T280A	possibly damaging	Het
Olfr661	T	A	7: 104,688,180	I55N	probably damaging	Het
Osbpl3	T	C	6: 50,351,872	D117G	probably damaging	Het
Parp9	C	T	16: 35,953,611	R318*	probably null	Het
Pcdhb18	A	G	18: 37,490,321	I235V	probably benign	Het
Pex16	T	G	2: 92,379,021		probably benign	Het
Piezo2	T	A	18: 63,114,963	M489L	probably benign	Het
Pmepa1	C	A	2: 173,227,835	G271V	probably damaging	Het
Safb	A	G	17: 56,603,579	E659G	unknown	Het
Scn9a	T	C	2: 66,501,666	T1289A	probably damaging	Het
Secisbp2l	T	C	2: 125,775,676	D27G	possibly damaging	Het
Serpina1f	A	G	12: 103,693,981	V14A	probably benign	Het
Serpinb9b	C	A	13: 33,029,469	T3N	possibly damaging	Het
Sfxn5	C	T	6: 85,229,200	M315I	probably benign	Het
Slc9b2	A	G	3: 135,329,769	D333G	probably benign	Het
Sostdc1	A	G	12: 36,317,230	N135S	possibly damaging	Het
Spg11	T	G	2: 122,070,944	D1505A	probably damaging	Het
Taar7a	T	C	10: 23,993,381	N34S	probably benign	Het
Tcerg1l	C	A	7: 138,209,797	R556L	possibly damaging	Het
Tcp11l1	T	C	2: 104,688,418	K311R	probably benign	Het
Tepp	A	T	8: 95,321,255		probably benign	Het
Trbv16	T	G	6: 41,152,038	F52C	probably damaging	Het
Ttn	T	A	2: 76,895,672	R6073S	unknown	Het
Uba1y	T	C	Y: 828,818	I542T	possibly damaging	Het
Vmn1r214	T	C	13: 23,034,912	I192T	probably benign	Het
Vmn2r67	C	T	7: 85,137,138	C553Y	probably damaging	Het
Zdhhc17	G	T	10: 110,948,260	H452N	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
G1citation:Bahcc1	UTSW	11	120287721	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
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
R7946:Bahcc1	UTSW	11	120272499	missense	probably benign
R7985:Bahcc1	UTSW	11	120272891	missense	probably damaging	0.97
R8128:Bahcc1	UTSW	11	120272390	nonsense	probably null
R8131:Bahcc1	UTSW	11	120272838	missense	probably benign	0.01
R8353:Bahcc1	UTSW	11	120274425	missense	probably damaging	1.00
R8439:Bahcc1	UTSW	11	120274589	missense	probably benign	0.01
R8710:Bahcc1	UTSW	11	120284127	missense	probably damaging	1.00
R8799:Bahcc1	UTSW	11	120286347	missense	probably damaging	1.00
R8920:Bahcc1	UTSW	11	120284505	missense	probably damaging	1.00
R8924:Bahcc1	UTSW	11	120276765	missense	probably benign	0.09
R9014:Bahcc1	UTSW	11	120272889	missense	probably benign	0.00
R9014:Bahcc1	UTSW	11	120282222	missense	probably benign
R9195:Bahcc1	UTSW	11	120276511	missense	probably benign
R9216:Bahcc1	UTSW	11	120286688	missense	probably damaging	1.00
R9328:Bahcc1	UTSW	11	120275059	missense	possibly damaging	0.61
R9392:Bahcc1	UTSW	11	120272687	nonsense	probably null
R9562:Bahcc1	UTSW	11	120259209	missense	possibly damaging	0.87
R9680:Bahcc1	UTSW	11	120272460	missense	possibly damaging	0.92
R9797:Bahcc1	UTSW	11	120268321	nonsense	probably null
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'- TGGCATTCCAATGTCCCCAAAG -3'
(R):5'- AGCCAGGACAGGATAACCTC -3'

Sequencing Primer
(F):5'- AAAGGGTACTTCCTGTTCACTCG -3'
(R):5'- GGATAACCTCCAACCCCAAC -3'

Posted On

2021-04-30