Mutagenetix > Incidental Mutation

Incidental Mutation 'R7984:Card9'

651351

Institutional Source

Beutler Lab

Gene Symbol

Card9

Ensembl Gene

ENSMUSG00000026928

Gene Name

caspase recruitment domain family, member 9

Synonyms

LOC332579

MMRRC Submission

046025-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7984 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26242188-26250930 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 26246784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 355 (I355L)

Ref Sequence

ENSEMBL: ENSMUSP00000097876 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028294] [ENSMUST00000028295] [ENSMUST00000100303]

AlphaFold

A2AIV8

Predicted Effect

probably benign
Transcript: ENSMUST00000028294
AA Change: I355L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000028294
Gene: ENSMUSG00000026928
AA Change: I355L

Domain	Start	End	E-Value	Type
Pfam:CARD	11	97	3.1e-21	PFAM
coiled coil region	145	272	N/A	INTRINSIC
coiled coil region	375	415	N/A	INTRINSIC
low complexity region	482	494	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000028295

SMART Domains

Protein: ENSMUSP00000028295
Gene: ENSMUSG00000075467

Domain	Start	End	E-Value	Type
low complexity region	38	67	N/A	INTRINSIC
Pfam:zf-DNL	74	139	4.1e-34	PFAM
low complexity region	158	172	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100303
AA Change: I355L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000097876
Gene: ENSMUSG00000026928
AA Change: I355L

Domain	Start	End	E-Value	Type
Pfam:CARD	11	97	7.1e-22	PFAM
coiled coil region	145	272	N/A	INTRINSIC
coiled coil region	375	415	N/A	INTRINSIC
low complexity region	482	494	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one allele of this gene display impaired immune responses to fungal infection but normal rates of bacterial clearance. However, homozygotes for a second allele display impaired bacterial clearance and impaired early innate immune responses. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted(5) Gene trapped(1)

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1e1	G	T	13: 4,645,679 (GRCm39)	H226N	probably damaging	Het
Aldh1a7	T	C	19: 20,686,764 (GRCm39)	D283G	probably damaging	Het
Angel1	T	C	12: 86,767,068 (GRCm39)	D436G	probably benign	Het
Ank1	G	A	8: 23,578,982 (GRCm39)	R314Q	probably damaging	Het
Apbb2	T	C	5: 66,465,035 (GRCm39)	E629G	probably damaging	Het
Cdon	C	T	9: 35,414,598 (GRCm39)	P1158S	probably benign	Het
Cpne7	T	G	8: 123,846,461 (GRCm39)	V91G	possibly damaging	Het
Dlc1	T	A	8: 37,405,472 (GRCm39)	T106S	possibly damaging	Het
Dnah1	A	T	14: 30,989,772 (GRCm39)	F3248Y	probably damaging	Het
Dnah7a	A	T	1: 53,543,377 (GRCm39)	D2264E	probably benign	Het
Dock7	A	T	4: 98,877,303 (GRCm39)	N1078K	unknown	Het
Emc1	T	A	4: 139,102,760 (GRCm39)	L973H	probably damaging	Het
Fer1l5	T	A	1: 36,447,702 (GRCm39)	L955Q	possibly damaging	Het
Fpr-rs7	T	C	17: 20,333,671 (GRCm39)	N273S	probably benign	Het
Gle1	T	A	2: 29,828,588 (GRCm39)	Y137N	probably damaging	Het
Grik4	G	A	9: 42,582,557 (GRCm39)	Q130*	probably null	Het
Hcn1	C	T	13: 118,112,609 (GRCm39)	Q858*	probably null	Het
Heg1	A	C	16: 33,583,945 (GRCm39)	S76R	possibly damaging	Het
Ikbke	T	A	1: 131,203,523 (GRCm39)	E50V	probably null	Het
Itga5	G	A	15: 103,264,379 (GRCm39)	P297S	probably damaging	Het
Kcng1	C	A	2: 168,104,406 (GRCm39)	R480L	possibly damaging	Het
Kdm3b	G	T	18: 34,956,752 (GRCm39)	E1236*	probably null	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Lrp5	A	G	19: 3,662,342 (GRCm39)	F894L	probably damaging	Het
Lrrk1	T	C	7: 65,950,477 (GRCm39)		probably null	Het
Man2a2	T	G	7: 80,003,056 (GRCm39)	T1018P	probably damaging	Het
Mctp2	T	C	7: 71,752,937 (GRCm39)	Q772R	possibly damaging	Het
Meioc	T	A	11: 102,565,432 (GRCm39)	N293K	possibly damaging	Het
Mrps24	A	T	11: 5,657,495 (GRCm39)	C34S	possibly damaging	Het
Nek1	G	T	8: 61,574,087 (GRCm39)	E1112*	probably null	Het
Nt5dc2	A	G	14: 30,860,775 (GRCm39)	S317G	probably damaging	Het
Obscn	G	T	11: 58,997,151 (GRCm39)	Q1492K	possibly damaging	Het
Or2a57	T	G	6: 43,212,730 (GRCm39)	S63A	probably damaging	Het
Or52e4	T	C	7: 104,705,639 (GRCm39)	F62S	probably damaging	Het
Or6c69	A	G	10: 129,747,941 (GRCm39)	F69L	probably benign	Het
Or8b36	A	G	9: 37,937,155 (GRCm39)	T18A	probably damaging	Het
Or9m1b	T	A	2: 87,836,969 (GRCm39)	N42I	probably damaging	Het
Or9s23	A	G	1: 92,501,144 (GRCm39)	I84V	probably benign	Het
P2ry12	T	A	3: 59,125,022 (GRCm39)	I218F	probably damaging	Het
Paip1	C	T	13: 119,566,698 (GRCm39)	Q11*	probably null	Het
Pcdhga3	C	A	18: 37,809,549 (GRCm39)	D667E	probably benign	Het
Pcnx2	T	G	8: 126,485,865 (GRCm39)	E1911A	probably benign	Het
Pibf1	T	C	14: 99,459,063 (GRCm39)	L678P	probably damaging	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Prickle2	T	C	6: 92,387,855 (GRCm39)	T516A	probably benign	Het
Prl2c1	G	A	13: 28,039,310 (GRCm39)		probably null	Het
Rnf112	A	G	11: 61,340,306 (GRCm39)	V656A	possibly damaging	Het
Siglecf	A	C	7: 43,004,655 (GRCm39)		probably null	Het
Slc24a1	A	T	9: 64,856,811 (GRCm39)	L32*	probably null	Het
Slc7a1	A	G	5: 148,278,920 (GRCm39)	V284A	possibly damaging	Het
Slco5a1	T	A	1: 12,951,608 (GRCm39)	H565L	probably damaging	Het
Slit2	A	G	5: 48,333,465 (GRCm39)		probably benign	Het
Sulf1	A	G	1: 12,929,497 (GRCm39)	T255A	probably benign	Het
Tmem130	C	T	5: 144,692,237 (GRCm39)	G56R	possibly damaging	Het
Trmt1l	A	C	1: 151,311,489 (GRCm39)	Q116H	probably benign	Het
Ttn	A	T	2: 76,554,094 (GRCm39)	W30870R	probably damaging	Het
Unc13b	A	T	4: 43,173,973 (GRCm39)	L1600F	unknown	Het
Vmn1r233	C	T	17: 21,214,417 (GRCm39)	V178M	probably damaging	Het
Vmn2r18	G	A	5: 151,485,526 (GRCm39)	P656L	probably damaging	Het
Vmn2r33	A	T	7: 7,566,862 (GRCm39)	D83E	probably benign	Het
Vps13b	G	A	15: 35,880,059 (GRCm39)	V3045I	probably benign	Het
Wdr25	A	T	12: 108,976,983 (GRCm39)		probably null	Het
Xpo6	A	G	7: 125,719,616 (GRCm39)	V591A	probably benign	Het

Other mutations in Card9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01704:Card9	APN	2	26,246,874 (GRCm39)	missense	probably benign
IGL02397:Card9	APN	2	26,242,341 (GRCm39)	missense	probably damaging	1.00
IGL02506:Card9	APN	2	26,244,427 (GRCm39)	splice site	probably benign
IGL02536:Card9	APN	2	26,248,844 (GRCm39)	missense	possibly damaging	0.93
IGL02809:Card9	APN	2	26,246,876 (GRCm39)	missense	probably benign	0.01
IGL02962:Card9	APN	2	26,248,029 (GRCm39)	critical splice acceptor site	probably null
R1441:Card9	UTSW	2	26,249,402 (GRCm39)	missense	probably benign	0.01
R1585:Card9	UTSW	2	26,244,398 (GRCm39)	missense	probably benign	0.01
R1755:Card9	UTSW	2	26,249,546 (GRCm39)	missense	probably damaging	0.99
R1959:Card9	UTSW	2	26,244,885 (GRCm39)	critical splice acceptor site	probably null
R2972:Card9	UTSW	2	26,247,222 (GRCm39)	missense	probably damaging	1.00
R4007:Card9	UTSW	2	26,243,012 (GRCm39)	missense	possibly damaging	0.95
R4283:Card9	UTSW	2	26,247,309 (GRCm39)	missense	possibly damaging	0.77
R4789:Card9	UTSW	2	26,247,632 (GRCm39)	missense	probably damaging	0.99
R5381:Card9	UTSW	2	26,248,895 (GRCm39)	missense	probably damaging	1.00
R5933:Card9	UTSW	2	26,242,509 (GRCm39)	missense	probably damaging	1.00
R6379:Card9	UTSW	2	26,246,789 (GRCm39)	missense	probably damaging	1.00
R7008:Card9	UTSW	2	26,247,811 (GRCm39)	missense	possibly damaging	0.96
R7124:Card9	UTSW	2	26,246,896 (GRCm39)	critical splice acceptor site	probably null
R7131:Card9	UTSW	2	26,248,847 (GRCm39)	missense	probably damaging	1.00
R7171:Card9	UTSW	2	26,249,496 (GRCm39)	missense	possibly damaging	0.78
R7237:Card9	UTSW	2	26,246,787 (GRCm39)	missense	probably benign	0.00
R8023:Card9	UTSW	2	26,247,327 (GRCm39)	missense	probably benign	0.00
R8312:Card9	UTSW	2	26,247,801 (GRCm39)	nonsense	probably null
R8672:Card9	UTSW	2	26,247,950 (GRCm39)	missense	probably benign	0.30
R9135:Card9	UTSW	2	26,242,397 (GRCm39)	missense	probably benign	0.00
R9273:Card9	UTSW	2	26,247,310 (GRCm39)	missense	probably damaging	0.96
R9577:Card9	UTSW	2	26,242,344 (GRCm39)	missense	probably damaging	1.00
R9626:Card9	UTSW	2	26,247,294 (GRCm39)	missense	probably benign	0.39
Z1176:Card9	UTSW	2	26,247,808 (GRCm39)	missense	probably damaging	1.00
Z1177:Card9	UTSW	2	26,247,563 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGATGCATTTGTACAAGCAGTCC -3'
(R):5'- ATTATCCCAGACCTTGTGTGC -3'

Sequencing Primer
(F):5'- TTGTACAAGCAGTCCCGGGTTC -3'
(R):5'- GCTGTTGCTCTGAGTCCAGC -3'

Posted On

2020-09-15